SIDB | Publications

2017 Publications

*Aaberg KM, Surén P, Søraas CL, Bakken IJ, Lossius MI, Stoltenberg C, Chin RF. Seizures, syndromes, and etiologies in childhood epilepsy: The International League Against Epilepsy 1981, 1989, and 2017 classifications used in a population-based cohort. Epilepsia. 2017 Sep 26. doi: 10.1111/epi.13913. [Epub ahead of print] PubMed PMID: 28949013. (Main Initiator)
*Aaberg KM, Gunnes N, Bakken IJ, Lund Søraas C, Berntsen A, Magnus P, Lossius MI, Stoltenberg C, Chin RF&, Surén P&. Incidence and Prevalence of Childhood Epilepsy: A Nationwide Cohort Study. Pediatrics. 2017 May;139(5). pii: e20163908. doi: 10.1542/peds.2016-3908. Epub 2017 Apr 5. PubMed PMID: 28557750. (&Joint Senior Author) (Main Initiator)
Amor, V., C. Zhang, A. Vainshtein, A. Zhang, D.R. Zollinger, Y. Eshed-Eisenbach, P.J. Brophy, M.N. Rasband, and E. Peles (2017). The paranodal cytoskeleton clusters Na+ channels at nodes of Ranvier, eLife 6. PMCID: 5279941
Ashman R, Banks K, Philip R, Walley R, Stanfield AC. A pilot randomised controlled trial of a group based social skills intervention for adults with autism spectrum disorder. Res in Autism Spectrum Dis. 2017; 43-44:67-75.
Bahey, N.G., Gadalla, K.K.E., McGonigal, R., Bailey, M.E.S., Edgar, J.M., and Cobb, S.R. (2017) Reduced axonal diameter of peripheral nerve fibres in a mouse model of Rett syndrome. Neuroscience, 358:261-268. doi: 10.1016/j.neuroscience.2017.06.061. PMID: 28687309.
Bayés À, Collins MO, Reig-Viader R, Gou G, Goulding D, Izquierdo A, Choudhary JS, Emes RD, Grant S.G. Evolution of complexity in the zebrafish synapse proteome. Nat. Commun. 2017; 8, 14613.
Benevento M, Oomen CA, Horner AE, Amiri H, Jacobs T, Pauwels C, Frega M, Kleefstra T, Kopanitsa MV, Grant SGN, Bussey TJ, Saksida LM, Van der Zee CE, van Bokhoven H, Glennon JC, Kasri NN. Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation. Sci. Rep. 2017; 7, 40284.
Bengani, H., Handley, M., Alvi, M., Ibitoye, R., Lees, M., Lynch, S. A., Lam, W., Fannemel, M., Nordgren, A., Malmgren, H., Kvarnung, M., Mehta, S., McKee, S., Whiteford, M., Stewart, F., Connell, F., Clayton-Smith, J., Mansour, S., Mohammed, S., Fryer, A., Morton, J., UK10K, C., Grozeva, D., Asam, T., Moore, D., Sifrim, A., McRae, J., Hurles, M. E., Firth, H. V., Raymond, F. L., Kini, U., Nellåker, C., Ddd, S., and FitzPatrick, D. R. (2017). Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genet Med 19, 900-908.
Bird A. Genetic determinants of the epigenome in development and cancer. Swiss Med Wkly. 2017;147: w14523.
Black R. Harden J, Chin RFM. Paediatric illness and care: more than just feeling poorly. Paediatric illness and care: more than just feeling poorly. Dec 2017. DOI: 10.2218/resmedica.v24i1.2509
Booker SA, Campbell GR, Mysiak KS, Brophy PJ, Kind PC, Mahad DJ, Wyllie DJ. Loss of protohaem IX farnesyltransferase in mature dentate granule cells impairs short-term facilitation at mossy fibre to CA3 pyramidal cell synapses. J Physiol. (2017) 15; 595:2147-2160.
Booker SA, Althof D, Degro CE, Watanabe M, Kulik A, Vida I. (2017) Differential surface density and modulatory effects of presynaptic GABAB receptors in hippocampal cholecystokinin and parvalbumin basket cells. Brain Structure and Function. 1; 222(8):3677-90. doi: 10.1007/s00429-017-1427-x. PMID: 28466358
Booker SA & Wyllie DJA (2017). Parvalbumin interneurons in the dorsal horn: it's not all about GABA. J Physiol 2017; 595, 7019-7020. PMID: 29068060
Booker SA, Althof D, Gross A, Loreth D, Müller J, Unger A, Fakler B, Varro A, Watanabe M, Gassmann M, Bettler B, Shigemoto R, Kulik A, Vida I (2017) KCTD12 auxiliary proteins modulate kinetics of GABAB receptor-mediated inhibition in cholecystokinin-containing interneurons. Cerebral Cortex. 12;27(3):2318-34. doi: 10.1093/cercor/bhw090. PMID: 27073217.
Brivio, V., C. Faivre-Sarrailh, E.Peles, D.L. Sherman and P.J. Brophy (2017). Assembly of CNS Nodes of Ranvier in Myelinated Nerves is Promoted by the Axon Cytoskeleton Curr. Biol. 27, 1068-1073. PMCID: 5387178
Burnside SW &. Hardingham GE. Transcriptional regulators of redox balance and other homeostatic processes with the potential to alter neurodegenerative disease trajectory (2017). Biochemical Society Transactions. doi: 10.1042/BST20170013.
Chan WK, Price DJ, Pratt T. Fgf8 morphogen gradients are differentially regulated by heparan sulphotransferases Hs2st and Hs6st1 in the developing brain. Biol Open. 2017;Nov 20. [Epub ahead of print]Clark EL, Bush SJ, McCulloch MEB, Farquhar IL, Young R, Lefevre L, Pridans C, Tsang HG, Wu C, Afrasiabi C, Watson M, Whitelaw CB, Freeman TC, Summers KM, Archibald AL, Hume DA. (2017) A high resolution atlas of gene expression in the domestic sheep (Ovis aries). PLoS Genet. Sep 15;13(9):e1006997.
Clark EL, Bush SJ, McCulloch MEB, Farquhar IL, Young R, Lefevre L, Pridans C, Tsang HG, Wu C, Afrasiabi C, Watson M, Whitelaw CB, Freeman TC, Summers KM, Archibald AL, Hume DA. (2017) A high resolution atlas of gene expression in the domestic sheep (Ovis aries). PLoS Genet. Sep 15;13(9):e1006997.
Chapat C, Jafarnejad SM, Matta-Camacho E, Hesketh GG, Gelbart IA, Attig J, Gkogkas CG, Alain T, Stern-Ginossar N, Fabian MR, Gingras AC, Duchaine TF, Sonenberg N. Cap-binding protein 4EHP effects translation silencing by microRNAs. Proc Natl Acad Sci U S A. 2017 May 23;114(21):5425-5430. doi: 10.1073/pnas.1701488114. Epub 2017 May 9.
Cousin MA. Integration of synaptic vesicle cargo retrieval with endocytosis at central nerve terminals. Front. Cell Neurosci. 2017; 11:234.
Cousin M.A. A (free) radical approach reveals the function of different synaptic vesicle pools. J. Physiol., 2017; 595: 1005-1006.
Currie S, Luz L, Booker S, Wyllie DJA, Kind PC & Daw M. Reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABAA γ2 R43Q mouse model of absence epilepsy. Epilepsia 2017; 58, 597-607. PMID: 2819531
Davies FCJ, Hope JE, McLachlan F, Nunez F, Doig J, Bengani H, Smith C, Abbott CM. Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in mice. Scientific Reports 2017; 7: 46019.
*Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S; Cannabidiol in Dravet Syndrome Study Group.. Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. N Engl J Med. 2017 May 25;376(21):2011-2020. doi: 10.1056/NEJMoa1611618. PubMed PMID: 28538134.
Dickie, A.C., McCormick, B., Lukito, V., Wilson, K.L., and Torsney, C. (2017). Inflammatory pain reduces C fibre activity-dependent slowing in a sex dependent manner, amplifying nociceptive input to the spinal cord. The Journal of neuroscience 37, 6488-6502.
Fernández E, Collins MO, Frank RAW, Zhu F, Kopanitsa MV, Nithianantharajah J, Lemprière SA, Fricker D, Elsegood KA, McLaughlin CL, Croning MDR, Mclean C, Armstrong JD, Hill WD, Deary IJ, Cencelli G, Bagni C, Fromer M, Purcell SM, Pocklington AJ, Choudhary JS, Komiyama NH, Grant SGN. Arc requires PSD95 for assembly into postsynaptic complexes involved with neural dysfunction and intelligence. Cell Rep. 2017; 21(3), 679-691.
Fletcher E, Wade J, Georgala PA, Gillespie TL, Price DJ, Pilley E, Becher JC. Oxygen flux reduces Cux1 positive neurons and cortical growth in a gestational rodent model of growth restriction. Ann Anat. 2017 Mar;210:84-93.
Fowler, J; McQueen, J; Holland, P; Sanz, Y; Marangoni, M; Scott, F; Chisholm, E; Scannevin, R; Hardingham, GE; Horsburgh, KH (2017). Dimethyl fumarate improves white matter function following severe hypoperfusion: involvement of microglia/macrophages and inflammatory mediators. Journal of Cerebral Blood Flow and Metabolism Aug;38(8):1354-1370.
Frank RA, Grant SG. Supramolecular organization of NMDA receptors and the postsynaptic density. Curr. Opin. Neurobiol. 2017; 45, 139-147.
Frank R.A.W., Zhu F., Komiyama N.H. and Grant S.G.N. (2017). Hierarchical organization and genetically separable subfamilies of PSD95 postsynaptic supercomplexes. J. Neurochem. 142, 504-511.
Gadalla, K.K., Vudhironarit, T., Hector, R.D., Sinnett, S.E., Bahey, N.G., Bailey, M.E.S., Gray, S.J. and Cobb, S.R. (2017) Development of a novel AAV gene therapy cassette with improved safety features and efficacy in a mouse model of Rett syndrome. Molecular therapy methods and clinical development. DOI 10.1016/j.omtm.2017.04.007 PMID: 28497075
Gantois I, Khoutorsky A, Popic J, Aguilar-Valles A, Freemantle E, Cao R, Sharma V, Pooters T, Nagpal A, Skalecka A, Truong VT, Wiebe S, Groves IA, Jafarnejad SM, Chapat C, McCullagh EA, Gamache K, Nader K, Lacaille JC, Gkogkas CG, Sonenberg N. Metformin ameliorates core deficits in a mouse model of fragile X syndrome. Nat Med. 2017 Jun;23(6):674-677. doi: 10.1038/nm.4335. Epub 2017 May 15.
Galley, H.F., McCormick, B., Wilson, K.L., Lowes, D.A., Colvin, L., and Torsney, C. (2017). Melatonin limits paclitaxel-induced mitochondrial dysfunction in vitro and protects against paclitaxel-induced neuropathic pain in the rat. Journal of pineal research. e12444
Garden, D., Rinaldi, A. & Nolan, M.F. (2017). Active integration of glutamatergic input to the inferior olive generates bidirectional postsynaptic potentials. Journal of Physiology, 595(4):1239-51. PMCID: 5309349.
Gonzalez-Sulser, A., and Nolan, M.F. (2017). news and views Grid cells ’ need for speed. 20, 1–2.
Haberman, N., Huppertz, I., Attig, J., Konig, J., Wang, Z., Hauer, C., Hentze, M. W., Kulozik, A. E., Le Hir, H., Curk, T., Sibley, C. R., Zarnack, K. & Ule, J. Insights into the design and interpretation of iCLIP experiments. Genome Biol. (2017)18, 7.
Hall, C. E., Yao, Z., Choi, M., Tyzack, G. E., Serio, A., Luisier, R., Harley, J., Preza, E., Arber, C., Crisp, S. J., Watson, P. M. D., Kullmann, D. M., Abramov, A. Y., Wray, S., Burley, R., Loh, S. H. Y., Martins, L. M., Stevens, M. M., Luscombe, N. M., Sibley, C. R., Lakatos, A., Ule, J., Gandhi, S. & Patani, R. Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS. Cell Rep. (2017) 19, 1739-1749.
Harland B, Grieves RM, Bett D, Stentiford R, Wood ER* & Dudchenko PA* (2017) Lesions of the head direction cell system increase hippocampal place field repetition. Current Biology 27(17):2706-2712.e2. doi: 10.1016/j.cub.2017.07.071. * Joint senior/corresponding author.
Harmon M, Larkman P, Hardingham GE, Jackson M, Skehel P. (2017) A Bi-fluorescence complementation system to detect associations between the Endoplasmic reticulum and mitochondria. Scientific Reports Dec 12;7(1):17467.
Harper CH, Mancini GMS, van Slegtenhorst M, Cousin MA. Altered synaptobrevin II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder. Neurobiol. Dis. 2017; 108: 298-306.
Hasel P, Dando O, Jiwaji Z, Baxter P, Todd AC, Heron S, Márkus NM, McQueen J, Hampton DW, Torvell M, Tiwari SS, McKay S, Eraso-Pichot A, Zorzano A, Masgrau R, Galea E, Chandran S, Wyllie DJA, Simpson TI & Hardingham GE. Neurons and neuronal activity control gene expression in astrocytes to regulate their development and metabolism. Nat Commun 2017; 8, 15132 doi: 10.1038/ncomms15132 PMID: 28462931
Hasenpusch-Theil K, Watson JA, Theil T. Direct interactions between Gli3, Wnt8b and Fgfs underlie patterning of the dorsal telencephalon. Cerebral Cortex 2017; 27: 1137-1148.
Hector, R.D., Dando, O., Ritakari, T.E., Kind, P.C., Bailey, M.E.S., and Cobb, S.R. (2017) Characterisation of Cdkl5 transcript isoforms in rat. Gene, 603, pp. 21-26. (doi:10.1016/j.gene.2016.12.001) (PMID:27940108)
Hector, R.D., Kalscheuer V.M., Hennig, F., Leonard H., Downs J., Clarke A., Benke, T.A., Armstrong J., Pineda. M., Bailey M.E.S., Cobb S. (2017) CDKL5 variants: improving our understanding of a rare neurological disorder. Neurology genetics, 3, 6. PMID: 29264392
Hendricks, A.E., Bochukova, E.G., Marenne, G., Keogh, J.M., Atanassova, N., Bounds, R., Wheeler, E., Mistry, V., Henning, E., Korner, A., et al. (2017). Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Sci Rep 7, 4394. 10.1038/s41598-017-03054-8.
Huang YT, Mason JO, Price DJ. Lateral cortical Cdca7 expression levels are regulated by Pax6 and influence the production of intermediate progenitors. BMC Neurosci. 2017; 18:47.
Hume DA, Wollscheid-Lengeling E, Rojo R, Pridans C. The evolution of the macrophage-specific enhancer (Fms intronic regulatory element) within the CSF1R locus of vertebrates. Sci Rep. 2017 Dec 7;7(1):17115.
Hunter MB, Chin RFM. Incidence of early-onset epilepsy: Impaired social attention detected through eye movements in children with early-onset epilepsy. Epilepsia. 2021 Aug;62(8):1921-1930.doi: 10.1111/epi.16962. Epub 2021 Jun 17.
Kruusvee, V., Lyst, M.J., Taylor, C., Tarnauskaite, Z., Bird, A.P., and Cook, A.G. (2017). Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders. Proc Natl Acad Sci U S A 114, E3243-E3250. 10.1073/pnas.1700731114
Lazarevic V, Fieńko S, Andres-Alonso M, Anni D, Ivanova D, Montenegro-Venegas C, Gundelfinger ED, Cousin MA, Fejtova A. Physiological concentrations of amyloid beta regulate recycling of synaptic vesicles via alpha 7 acetylcholine receptor and CDK5/calcineurin signalling. Front. Mol. Neurosci. 2017; 10:221.
Lagger S, Connelly JC, Schweikert G, Webb S, Selfridge J, Ramsahoye BH, Yu M, He C, Sanguinetti G, Sowers LC, Walkinshaw MD, Bird A. MeCP2 recognizes cytosine methylated tri-nucleotide and di-nucleotide sequences to tune transcription in the mammalian brain. PLoS Genet 2017 13(5): e1006793.
Low, K. J., Ansari, M., Abou Jamra, R., Clarke, A., El Chehadeh, S., FitzPatrick, D. R., Greenslade, M., Henderson, A., Hurst, J., Keller, K., Kuentz, P., Prescott, T., Roessler, F., Selmer, K. K., Schneider, M. C., Stewart, F., Tatton-Brown, K., Thevenon, J., Vigeland, M. D., Vogt, J., Willems, M., Zonana, J., Study, D. D., and Smithson, S. F. (2017). PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. Eur J Hum Genet 25, 552-559.
Lyst, M.J., Ekiert, R., Guy, J., Selfridge, J., Koerner, M. v., Merusi, C., de Sousa, D., and Bird, A. (2018). Affinity for DNA Contributes to NLS Independent Nuclear Localization of MeCP2. Cell Reports 24, 2213–2220.
Marwick KFM, Parker P, Skehel P, Hardingham G & Wyllie DJA (2017). Functional assessment of the NMDA receptor variant GluN2AR586K Wellcome Open Res doi: 10.12688/wellcomeopenres.10985.1 PMID: 28459106
McKechanie AG, Moffat VJ, Johnstone EC, Fletcher-Watson S. Links between Autism Spectrum Disorder Diagnostic Status and Family Quality of Life. Child 2017;4. doi:10.3390/children4040023
McQueen J, Ryan TJ, McKay S, Marwick K, Carpanini S, Wishart TM, Gillingwater TH, Manson JC, Wyllie DJA, Grant SGN, McColl B, Komiyama NH, Hardingham GE. Pro-death NMDA receptor signaling is promoted by the GluN2B C-terminus independently of DAPK1. eLife 2017; 6:e17161 PMID: 28731405.
Martin LJ, Smith SB, Khoutorsky A, Magnussen CA, Samoshkin A, Sorge RE, Cho C, Yosefpour N, Sivaselvachandran S, Tohyama S, Cole T, Khuong TM, Mir E, Gibson DG, Wieskopf JS, Sotocinal SG, Austin JS, Meloto CB, Gitt JH, Gkogkas C, Sonenberg N, Greenspan JD, Fillingim RB, Ohrbach R, Slade GD, Knott C, Dubner R, Nackley AG, Ribeiro-da-Silva A, Neely GG, Maixner W, Zaykin DV, Mogil JS, Diatchenko L. Epiregulin and EGFR interactions are involved in pain processing. J Clin Invest. 2017 Sep 1;127(9):3353-3366. doi: 10.1172/JCI87406. Epub 2017 Aug 7.
Marwick KFM, Parker P, Skehel P, Hardingham G, Wyllie DJA. Functional assessment of the NMDA receptor variant GluN2AR586K Wellcome Open Res 2017 doi: 10.12688/wellcomeopenres.10985.1 PMID: 28459106
McRae, JF, Clayton, S, Fitzgerald, TW et al. (299 more authors). Deciphering, D. D. S. (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542. pp. 433-438. ISSN 0028-0836
Moy JK, Khoutorsky A, Asiedu MN, Black BJ, Kuhn JL, Barragán-Iglesias P, Megat S, Burton MD, Burgos-Vega CC, Melemedjian OK, Boitano S, Vagner J, Gkogkas CG, Pancrazio JJ, Mogil JS, Dussor G, Sonenberg N, Price TJ. The MNK-eIF4E Signaling Axis Contributes to Injury-Induced Nociceptive Plasticity and the Development of Chronic Pain. J Neurosci. 2017 Aug 2;37(31):7481-7499. doi: 10.1523/JNEUROSCI.0220-17.2017. Epub 2017 Jul 3.
Ottens, F., Boehm, V., Sibley, C. R., Ule, J. & Gehring, N. H. Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates. RNA. (2017) 23, 1224-1236.
Pratt, T., Nowakowski, T.J. and Price, D.J. (2017) MicroRNA and Neocortical Evolution. In "Essentials of noncoding RNAs in neuroscience” Eds. Davide De Pietri Tonelli and Olga Barca-Mayo, Elsevier Ch. 16.
Price, D., Jarman, A., Mason, J. and Kind, P. (2017) ‘Building Brains: An Introduction to Neural Development’ An undergraduate textbook on developmental neurobiology. 2nd Edition Wiley-Blackwell / New York Academy of Sciences.
Puggioni P, Jelitai M, Duguid I and van Rossum MCW (2017) Extraction of synaptic input properties in vivo. Neural Computation 29(7):1745-1768.
*Pujar SS, Seunarine KK, Martinos MM, Neville BGR, Scott RC&, Chin RFM&, Clark CA&. Long-term white matter tract reorganization following prolonged febrile seizures. Epilepsia. 2017 May;58(5):772-780. doi: 10.1111/epi.13724. Epub 2017 Mar 23. PubMed PMID: 28332711; PubMed Central PMCID: PMC5484997. (&Joint Senior Author) (Main Initiator)
Rahman M. M., Kedia S., Fernandes G., Chattarji S. (2017) Activation of the same mGluR5 receptors in the amygdala causes divergent effects on specific versus indiscriminate fear. eLife DOI: 10.7554/eLife.2566.
Rainger, J., Williamson, K. A., Soares, D. C., Truch, J., Kurian, D., Gillessen-Kaesbach, G., Seawright, A., Prendergast, J., Halachev, M., Wheeler, A., McTeir, L., Gill, A. C., van Heyningen, V., Davey, M. G., UK10K, and FitzPatrick, D. R. (2017). A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. Hum Mutat 38, 942-946.
Redin, C., et al. (2017). The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet 49, 36-45.
Reilly C, Atkinson P, Das KB, Chin RFM, Aylett SE, Burch V, Gillberg C, Scott RC, Neville BGR. Parent- and Teacher-Reported Symptoms of ADHD in School-Aged Children With Active Epilepsy: A Population-Based Study. J Atten Disord. 2017 Sep;21(11):887-897. doi: 10.1177/1087054714558117. Epub 2014 Nov 21. PubMed PMID: 25416464.
Rodor, J., FitzPatrick, D. R., Eyras, E., and Cáceres, J. F. (2017). The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development. RNA Biol 14, 45-57.
Rojo R, Pridans C, Langlais D, Hume DA. Transcriptional mechanisms that control expression of the macrophage colony-stimulating factor receptor locus. Clin Sci (Lond). 2017 Jul 31;131(16):2161-2182.
Ruiz-Reig, N., Andres, B., Huilgol, D., Grove, E.A., Tissir, F., Tole, S., Theil, T., Herrera, E., and Fairen, A. (2017). Lateral Thalamic Eminence: A Novel Origin for mGluR1/Lot Cells. Cereb Cortex 27, 2841-2856.
Sabia, M., Hardt O., and Hupbach, A. (2017). The long-term consequences of correctly rejecting and falsely accepting target- related foils in visual recognition memory. Learn. Mot., 57, 67-81.
Sharp, L., Pratt, T., MacKay, G.E., Keighren, M.A., Flockhart, J.H. Chandler, E.J., Price, D.J., Mason, J.O. and West, J.D. (2017) Comparison of two related lines of tauGFP transgenic mice designed for lineage tracing. BMC Developmental Biology 17:8
Schmidt-Hieber, C. & Nolan, M.F. (2017). Synaptic integrative mechanisms for spatial cognition. Nature Neuroscience, 20(11): 1483-1492.
Shah RR, Bird AP. MeCP2 mutations: progress towards understanding and treating Rett syndrome. Genome Med 2017; 9(1): 17.
Sharp L, Pratt T, MacKay GE, Keighren MA, Flockhart JH, Chandler EJ, Price DJ, Mason JO, West JD. Comparison of two related lines of tauGFP transgenic mice designed for lineage tracing. BMC Dev Biol. 2017; 17:8.
Shaw, N. D., et al.(2017). SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49, 238-248.
Shukla A., Beroun A., Panopoulou M., Neumann P.A, Grant S.G., Olive M.F., Dong Y. and Schlüter O.M. (2017). Calcium-permeable AMPA receptors and silent synapses in cocaine-conditioned place preference. EMBO J. 36, 458-474.
Sibley, C. R. Individual nucleotide resolution UV cross-linking and immunoprecipitation (iCLIP) to determine protein-RNA interactions. Methods Mol Biol. (2017).
Sinnett, S.E., Hector, R.D., Gadalla, K.K., Heindel, C., Chen, D., Zaric, V., Bailey, M.E.S., Cobb, S.R., Gray, S.J. (2017) Improved MECP2 gene therapy extends the survival of Mecp2-null mice without apparent toxicity after intercisternal delivery. Molecular therapy methods and clinical development. DOI 10.1016/j.omtm.2017.04.006. PMID: 28497072
Skene N.G., Roy M. and Grant S.G. (2017). A genomic lifespan program that reorganises the young adult brain is targeted in schizophrenia. Elife 6, e17915.
Smith R, Huang YT, Tian T, Vojtasova D, Mesalles-Naranjo O, Pollard SM, Pratt T, Price DJ, Fotaki V. The Transcription Factor Foxg1 Promotes Optic Fissure Closure in the Mouse by Suppressing Wnt8b in the Nasal Optic Stalk. J Neurosci. 2017; 37:7975-7993.
Stanfield AC, Philip RCM, Whalley H, Romaniuk L, Hall J, Johnstone EC, Lawrie SM. Dissociation of brain activation in autism and schizotypal personality disorder during social judgments. Schizophr Bull. 2017; 43(6):1220-1228.
Taylor, R. L., Handley, M. T., Waller, S., Campbell, C., Urquhart, J., Meynert, A. M., Ellingford, J. M., Donnelly, D., Wilcox, G., Lloyd, I. C., Mundy, H., FitzPatrick, D. R., Deshpande, C., Clayton-Smith, J., and Black, G. C. (2017). Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. Invest Ophthalmol Vis Sci 58, 594-603.
Thomson SR, Seo SS, Barnes SA, Louros SR, Muscas M, Dando O, Kirby C, Wyllie DJA, Hardingham GE, Kind PC, Osterweil EK. Cell type-specific translation profiling reveals a novel strategy for treating fragile X syndrome. Neuron 2017; 95, 550-563. PMID: 28772121
Tillotson R, Selfridge J, Koerner MV, Gadalla KKE, Guy J, De Sousa D, Hector RD, Cobb SR, Bird A. Radically truncated MeCP2 rescues Rett syndrome-like neurological defects. Nature 2017; 550(7676): 398-401.
Turko, P., Groberman, K., Browa, F., Cobb, S.R. and Vida, I. (2017) Differential dependence of GABAergic and glutamatergic neurons on glia for the establishment of synaptic transmission. Cerebral Cortex, 29(3):1230-1243. doi: 10.1093/cercor/bhy029. PMID: 29425353
Tuttle AH, Tansley S, Dossett K, Tohyama S, Khoutorsky A, Maldonado-Bouchard S, Stein L, Gerstein L, Crawhall-Duk H, Pearl R, Sukosd M, Leger P, Hardt OM, Yachnin D, Austin JS, Chan CM, Pooters T, Groves I, Martin LJ, Sonenberg N, Gkogkas CG, Mogil JS. Social propinquity in rodents as measured by tube cooccupancy differs between inbred and outbred genotypes. Proc Natl Acad Sci U S A. 2017 May 23;114(21):5515-5520. doi: 10.1073/pnas.1703477114. Epub 2017 May 8.
Tyzack, G. E., Hall, C. E., Sibley, C. R., Cymes, T., Forostyak, S., Carlino, G., Meyer, I. F., Schiavo, G., Zhang, S. C., Gibbons, G. M., Newcombe, J., Patani, R. & Lakatos, A. A neuroprotective astrocyte state is induced by neuronal signal EphB1 but fails in ALS models. Nat Commun. (2017) 8, 1164.
Vallat, J. M., N. Yuki, K. Sekiguchi, N. Kokubun, N. Oka, S. Mathis, L. Magy, D.L. Sherman, P.J. Brophy and J.J. Devaux (2017) Paranodal lesions in chronic inflammatory demyelinating polyneuropathy associated with anti-Neurofascin 155 antibodies. Neuromuscul. Disord. 27, 290-293. PMCID:
van de Lagemaat LN, Stanford LE, Pettit CM, Strathdee DJ, Strathdee KE, Elsegood KA, Fricker DG, Croning MD, Komiyama NH, Grant SG. Standardized experiments in mutant mice reveal behavioural similarity on 129S5 and C57BL/6J backgrounds. Genes Brain Behav. 2017; 16, 409-418.
Wise T, +43 others including Stanfield AC. Common and distinct patterns of grey-matter volume alteration in major depression and bipolar disorder: evidence from voxel-based meta-analysis. Mol Psychiatry. 2017; 22(10):1455-1463.
Zanato C, Pelagalli A, Marwick KFM, Piras M, Dall’Angelo S, Spinaci A, Pertwee RG, Wyllie DJA, Hardingham GE & Zanda M (2017). Synthesis, radio-synthesis and in vitro evaluation of terminally fluorinated derivatives of HU-210 and HU-211 as novel candidate PET tracers. Org Biomol Chem 15, 2086-2096 PMID: 28210722

2018 Publications

*Aaberg KM, Bakken IJ, Lossius MI, Lund Søraas C, Tallur KK, Stoltenberg C, Surén P&, Chin RF&. (&Joint Senior Author). Short-term Seizure Outcomes in Childhood Epilepsy. Pediatrics. 2018 Jun;141(6). pii: e20174016. doi: 10.1542/peds.2017-4016. Epub 2018 May 22. (Main Initiator)
Amorim IS, Lach G, Gkogkas CG. The Role of the Eukaryotic Translation Initiation Factor 4E (eIF4E) in Neuropsychiatric Disorders. Front Genet. 2018 Nov 23;9:561. doi: 10.3389/fgene.2018.00561. eCollection 2018. Review.
Amorim IS, Kedia S, Kouloulia S, Simbriger K, Gantois I, Jafarnejad SM, Li Y, Kampaite A, Pooters T, Romanò N, Gkogkas CG. Loss of eIF4E Phosphorylation Engenders Depression-like Behaviors via Selective mRNA Translation. J Neurosci. 2018 Feb 21;38(8):2118-2133. doi: 10.1523/JNEUROSCI.2673-17.2018.
Antequera, F., and A.Bird (2018). CpG Islands: A Historical Perspective. Methods Mol Biol 1766: 3-13.
Asiminas A, Jackson AD, Louros SR, Till SM, Spano T, Dando O, Bear MF, Chattarji S, Hardingham GE, Osterweil EK, Wyllie DJA, Wood ER, Kind PC. (2018) Sustained correction of associative learning deficits following brief, early treatment in a rat model of Fragile X Syndrome. Science Translational Medicine 11:494
Baker K, Gordon SL, Melland H, Bumbak F, Scott DJ, Jiang TJ, Owen D, Turner BJ, Boyd SG, Rossi M, Al-Raqad M, Elpeleg O, Peck D, Mancini GMS, Wilke M, Zollino M, Marangi G, Weigand H, Borggraefe I, Haack T, Stark Z, Sadedin S; Broad Center for Mendelian Genomics, Tan TY, Jiang Y, Gibbs RA, Ellingwood S, Amaral M, Kelley W, Kurian MA, Cousin MA, Raymond FL. SYT1-associated neurodevelopmental disorder: a case series. Brain 2018;141:2576-2591.
Bhalala, O. G., Nath, A. P., UK Brain Expression Consortium, Inouye, M. & Sibley, C. R. Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue. PLoS Genet. (2018) 14, e1007607.
Blazquez, L., Emmett, W., Faraway, R., Pineda, J. M. B., Bajew, S., Gohr, A., Haberman, N., Sibley, C. R., Bradley, R. K., Irimia, M. & Ule, J. Exon Junction Complex Shapes the Transcriptome by Repressing Recursive Splicing. Mol Cell. (2018) 72, 496-509 e499.
Booker SA, Loreth D, Gee AL, Watanabe M, Kind PC, Wyllie DJA, Kulik Á, Vida I (2018). Postsynaptic GABABRs inhibit L-type calcium channels and abolish long-term potentiation in hippocampal somatostatin interneurons. Cell Rep 2018; 22, 36-43. PMID: 29298431.
Booker SA, Vida I. (2018) Morphological diversity and connectivity of hippocampal interneurons. Cell and tissue research.373(3):619-41. doi: 10.1007/s00441-018-2882-2. PMID: 30084021
Borello U, Berarducci B, Delahaye E, Price DJ, Dehay C. SP8 Transcriptional Regulation of Cyclin D1 During Mouse Early Corticogenesis. Front Neurosci. 2018;12:119.
Brown SG, Basu S, Whalley HC, Kind PC, Stanfield AC. Age-related functional brain changes in FMR1 premutation carriers. Neuroimage: Clinical. 2018; 17:761-767.
Brown, R., Lam, A.D., Gonzalez-Sulser, A., Ying, A., Jones, M., Chou, R.C.-C., Tzioras, M., Jordan, C.Y., Jedrasiak-Cape, I., Hemonnot, A.-L., et al. (2018). Circadian and Brain State Modulation of Network Hyperexcitability in Alzheimer’s Disease. Eneuro 5, ENEURO.0426-17.2018.
Campbell, J., FitzPatrick, D. R., Azam, T., Gibson, N. A., Somerville, L., Joss, S. K., Deciphering, D. D. S., and Urquhart, D. S. (2018). NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea. Pediatrics 141, S485-S490.
Chakraborty, P. & Chattarji, S. (2018) Timing is everything: differential effects of chronic stress on fear extinction. Psychopharmacology DOI:10.1007/s00213-018-5053-y
Chin RFM, Stephen J, Weir CJ, Wood R. Trends in epilepsy admissions in children, 1981-2013: population-based observational study using the Scottish national hospital discharge database. Arch Dis Child. 2018 Apr 28. pii: archdischild-2017-313944. doi: 10.1136/archdischild-2017-313944.
Clemens AM, Fernandez Delgado Y, Mehlman ML, Mishra P, Brecht M. (2018) Multisensory and Motor Representations in Rat Oral Somatosensory Cortex. Sci Rep. 2018;8(1):13556. doi:10.1038/s41598-018-31710-0
Coba MP, Ramaker MJ, Ho EV, Thompson SL, Komiyama NH, Grant SGN, Knowles JA, Dulawa SC. Dlgap1 knockout mice exhibit alterations of the postsynaptic density and selective reductions in sociability. Sci. Rep. 2018; 8(1), 2281.
Connolly NM,…..Hardingham GE….. & Prehn JH (2018) Guidelines on experimental methods to assess mitochondrial dysfunction in cellular models of neurodegenerative diseases. Cell Death and Differentiation. 2017 Mar;25(3):542-572.
Cousin MA, Gordon SL, Smillie K.J. Using FM dyes to monitor clathrin-mediated endocytosis in primary neuronal culture. Methods Mol. Biol. 2018; 1847: 239-249.
Cutsuridis, V., Graham, B., Cobb, S., and Vida, I. (2018) Hippocampal Microcircuits: A Computational Modelers' Resource Book, Springer, New York, 2nd Edition. 885 pages.
Delgado JY, Fink AE, Grant SGN, O'Dell TJ, Opazo P. Rapid homeostatic downregulation of LTP by extrasynaptic GluN2B receptors. J. Neurophysiol. 2018; 120, 2351-2357.
Desmaris E, Keruzore M, Saulnier A, Ratié L, Assimacopoulos S, De Clercq S, Nan X, Roychoudhury K, Qin S, Kricha S, Chevalier C, Lingner T, Henningfeld KA, Zarkower D, Mallamaci A, Theil T, Campbell K, Pieler T, Li M, Grove EA, Bellefroid EJ. DMRT5, DMRT3 and EMX2 cooperatively repress Gsx2 at the pallium-subpallium boundary to maintain cortical identity in dorsal telencephalic progenitors. J Neurosci. 2018; 38, 9105-9121.
*Devinsky O, Patel AD, Cross JH, Villanueva V, Wirrell EC, Privitera M, Greenwood SM, Roberts C, Checketts D, VanLandingham KE, Zuberi SM; GWPCARE3 Study Group, Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome. N Engl J Med. 2018 May 17;378(20):1888-1897. doi: 10.1056/NEJMoa1714631.
Devinsky O, Patel AD, Thiele EA, Wong MH, Appleton R, Harden CL, Greenwood S, Morrison G, Sommerville K; GWPCARE1 Part A Study Group. Randomized, dose-ranging safety trial of cannabidiol in Dravet syndrome. Neurology. 2018 Apr 3;90(14):e1204-e1211. doi: 10.1212/WNL.0000000000005254.
Domanski APF, Booker SA, Wyllie DJA, Isaac, Kind PC. (2018) Cellular and synaptic phenotype compensations limit circuit disruption in Fmr1 – KO mouse layer 4-barrel cortex but fail to prevent deficits in information processing. BioRxiv
Dorà NJ, Manuel M, Kleinjan DJ, Price DJ, Collinson JM, Hill RE, West JD. A conditional Pax6 depletion study with no morphological effect on the adult mouse corneal epithelium. BMC Res Notes. 2018; Oct 5;11(1):705.
Dylda, E., Pakan, J.M.P., and Rochefort, N.L. (2018). Chronic Two-Photon Calcium Imaging in the Visual Cortex of Awake Behaving Mice. In Handbook of Behavioral Neuroscience, pp. 235–251.
Ferdaos, N. and Mason, J.O. (2018) ‘Cerebral organoids: building brains from stem cells’ Chapter 8 in Organoids and Mini-Organs, J.A. Davies & M.L. Lawrence eds (Academic Press) pp157-174
Fletcher-Watson S, Hampton S. The potential of eye-tracking as a sensitive measure of behavioural change in response to intervention. Scientific reports 2018; 8(1), 14715.
Garden DLF, Oostland M, Jelitai M, Rinaldi A, Duguid I and Nolan MF. (2018) Inferior Olive HCN1 Channels Coordinate Synaptic Integration and Complex Spike Timing. Cell Reports 13;22(7):1722-1733. doi: https://doi.org/10.1016/j.celrep.2018.01.069.
Ghosh, A., D.L. Sherman and P.J. Brophy (2018). The Axonal Cytoskeleton and the Assembly of Nodes of Ranvier. Neuroscientist 24, 104-110. PMCID: 5846858
Gloveli T, Booker SA, Kopell N and Dugladze T; Cell Type-Specific Activity during Hippocampal Network Oscillations in Vitro; Hippocampal Microcircuits: A Computational Modellers Resource Book 2nd edition; 2018
Grant S.G.N. (2018). The synaptomic theory of behavior and brain disease. Cold Spring Harb. Symp. Quant. Biol. 83, 45-56.
Grant SGN. Synapse molecular complexity and the plasticity behaviour problem. Brain Neurosci. Adv., 2018; doi: 10.1177/2398212818810685.
Guy J., Alexander-Howden B, FitzPatrick D, DeSousa D, Koerner MV, Selfridge J, Bird A. A mutation-led search for novel functional domains in MeCP2. Hum Mol Genet 2018; 27(14): 2531-2545.
Hagerman R, Jacquemont S, Berry-Kravis E, Des Portes V, Stanfield A, Koumaras B, Rosenkranz G, Murgia A, Wolf C, Apostol G, von Raison F. Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents. Sci Rep. 2018; 8(1):16970.
Hardingham GE, Pruunsild P, Greenberg ME, & Bading H. (2018). Activity-dependent gene expression in mice and humans: implications for evolution of cognitive abilities (2018). Nature Reviews Neuroscience. Nov 23. doi: 10.1038/nrn.2017.138
Hardt, O., and Nadel, L. (2018). Systems consolidation revisited, but not revised: The promise and limits of optogenetics in the study of memory. Neuroscience Letters 680, 54-59.
Hasenpusch-Theil K, West S, Kelman A, Kozic Z, Horrocks S, McMahon AP, Price DJ, Mason JO, Theil T. Gli3 controls the onset of cortical neurogenesis by regulating the radial glial cell cycle through Cdk6 expression. Development 2018; 145. doi: 10.1242/dev.163147.
Hawley C, Rojo R, Raper A, Sauter KA, Lisowski ZM, Grabert K, Bain CC, Davis GM, Louwe PA, Ostrowski MC, Hume DA, Pridans C, Jenkins SJ. (2018) Csf1r-mApple Transgene Expression and Ligand Binding In Vivo Reveal Dynamics of CSF1R Expression within the Mononuclear Phagocyte System. J Immunol. Mar 15;200(6):2209-2223.
Hendriksen RGF, Vles JSH, Aalbers MW, Chin RF, Hendriksen JGM. Brain-related comorbidities in Boys and Men with Duchenne Muscular Dystrophy: A Descriptive Study. Eur J Paediatr Neurol. 2018 May;22(3):488-497. doi: 10.1016/j.ejpn.2017.12.004
Herron LR, Pridans C, Turnbull ML, Smith N, Lillico S, Sherman A, Gilhooley HJ, Wear M, Kurian D, Papadakos G, Digard P, Hume DA, Gill AC, Sang HM. (2018) A chicken bioreactor for efficient production of functional cytokines. BMC Biotechnol. Dec 29;18(1):82.
Horner AE, McLaughlin CL, Afinowi NO, Bussey TJ, Saksida LM, Komiyama NH, Grant SGN, Kopanitsa MV. Enhanced cognition and dysregulated hippocampal synaptic physiology in mice with a heterozygous deletion of PSD-95. Eur. J. Neurosci. 2018; 47(2), 164-176.
Jafarnejad SM, Chapat C, Matta-Camacho E, Gelbart IA, Hesketh GG, Arguello M, Garzia A, Kim SH, Attig J, Shapiro M, Morita M, Khoutorsky A, Alain T, Gkogkas CG, Stern-Ginossar N, Tuschl T, Gingras AC, Duchaine TF, Sonenberg N. Elife. Translational control of ERK signaling through miRNA/4EHP-directed silencing. 2018 Feb 7;7. pii: e35034. doi: 10.7554/eLife.35034.
46. Johnstone M, Vasistha NA, Barbu MC Glen S, Burr K, Christopher E, Dando O, Robert C, Fetit R, Livesey MR, St. Clair D, Blackwood DH, Millar K, Hardingham GE, Wyllie DJ, Johnstone EC, Whalley HC, McIntosh AM, Lawrie SM & Chandran S (2018). Microduplication of Chr16p13.11 affects neuronal precursor cell proliferation. Molecular Psychiatry Nov 6. doi: 10.1038/s41380-018-0292-1
M. Johnstone, N. A. Vasistha, M. C. Barbu, O. Dando, K. Burr, E. Christopher, S. Glen, C. Robert, R. Fetit, K. G. Macleod et al. (2018). Reversal of proliferation deficits caused by chromosome 16p13.11 microduplication through targeting NFκB signaling: an integrated study of patient-derived neuronal precursor cells, cerebral organoids and in vivo brain imaging. Molecular Psychiatry.
Keemink, S.W., Lowe, S.C., Pakan, J.M.P., Dylda, E., van Rossum, M.C.W., and Rochefort, N.L. (2018). FISSA: A neuropil decontamination toolbox for calcium imaging signals. Sci. Rep. 8, 3493.
Kinney-Lang E, Yoong M, Hunter M, Kamath Tallur K, Shetty J, McLellan A, Chin RFM&, Escudero J&. Analysis of EEG networks and their correlation with cognitive impairment in preschool children with epilepsy. December 2018. Epilepsy & Behavior 90(January 2019):45-56. (&Joint Senior Author)
*Kinney-Lang E, Spyrou L, Ebied A, Chin RFM&, Escudero J&. Tensor-driven extraction of developmental features from varying paediatric EEG datasets. J Neural Eng. 2018 Aug;15(4):046024. doi: 10.1088/1741-2552/aac664. (&Joint Senior Author).
Koerner MV, FitzPatrick L, Selfridge J, Guy J, De Sousa D, Tillotson R, Kerr A, Sun Z, Lazar MA, Lyst MJ, Bird A. Toxicity of overexpressed MeCP2 is independent of HDAC3 activity. Genes Dev 2018; 32(23-24): 1514-1524.
Kokotos AC, Peltier J, Davenport EC, Trost M, Cousin MA. Activity-dependent bulk endocytosis proteome reveals a key role for the monomeric GTPase Rab11. Proc. Natl Acad Sci. 2018; 115:E10177-10186.
Kopanitsa MV, Gou G, Afinowi NO, Bayes A, Grant SGN, Komiyama NH. Chronic treatment with a MEK inhibitor reverses enhanced excitatory field potentials in Syngap1+/- mice. Pharmacological Reports. 2018; 70:777.
Kulik A, Booker SA, Vida I. (2018) Differential distribution and function of GABABRs in somato-dendritic and axonal compartments of principal cells and interneurons in cortical circuits. Neuropharmacology. 1;136:80-91. doi: 10.1016/j.neuropharm.2017.10.018. PMID: 29042314
Li Z, Pratt T, Price DJ. Zic4-Lineage Cells Increase Their Contribution to Visual Thalamic Nuclei during Murine Embryogenesis If They Are Homozygous or Heterozygous for Loss of Pax6 Function. eNeuro. 2018 Oct 23;5(5)
Lim L, Pakan JMP, Selten MM, Marques-Smith A, Llorca A, Bae SE, Rochefort NL, Marín O. Optimization of interneuron function by direct coupling of cell migration and axonal targeting. Nature Neuroscience.2018; (7):920-931.
Lipscombe D, Wyllie DJA. Editorial Overview: Ion Channels. Current Opinion in Physiology 2018; 2, i-iv.
Lyst MJ, Ekiert R, Guy J, Selfridge J, Koerner MV, Merusi C, De Sousa D, Bird A. Affinity for DNA Contributes to NLS Independent Nuclear Localization of MeCP2. Cell Rep 2018; 24(9): 2213-2220.
Madan, J. S., Gupta, K., Chattarji, S., Bhattacharya, A. (2018) Hippocampal and amygdalar cell-specific translation is similar soon after stress but diverge over time. Hippocampus DOI: 10.1002/hipo.22845.
Malavasi ELV, Economides KD, Grünewald E, Makedonopoulou P, Gautier P, Mackie S, Murphy LC, Murdoch H, Crummie D, Ogawa F, McCartney DL, O'Sullivan ST, Burr K, Torrance HS, Phillips J, Bonneau M, Anderson SM, Perry P, Pearson M, Constantinides C, Davidson-Smith H, Kabiri M, Duff B, Johnstone M, Polites HG, Lawrie SM, Blackwood DH, Semple CA, Evans KL, Didier M, Chandran S, McIntosh AM, Price DJ, Houslay MD, Porteous DJ, Millar JK. DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness. Transl Psychiatry. 2018 Sep 6;8(1):184.
Männikkö, R., Wong, L., Tester, D. J., Thor, M. G., Sud, R., Kullmann, D. M., Sweeney, M. G., Leu, C., Sisodiya, S. M., FitzPatrick, D. R., Evans, M. J., Jeffrey, I. J. M., Tfelt-Hansen, J., Cohen, M. C., Fleming, P. J., Jaye, A., Simpson, M. A., Ackerman, M. J., Hanna, M. G., Behr, E. R., and Matthews, E. (2018). Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. Lancet 391, 1483-1492.
Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study. Quantifying the contribution of recessive coding variation to developmental disorders. Science. 2018 Dec 7;362(6419):1161-1164. doi:10.1126/science.aar6731.
Martinos MM, Pujar SS, Gillberg C, Cortina-Borja M, De Haan M, Neville BG, Scott RC, Chin RF. Long term behavioural outcomes after paediatric convulsive status epilepticus: a population-based study. Dev Med Child Neurol. 2018 Apr;60(4):409-416. doi: 10.1111/dmcn.13636.
Masch JM, Steffens H, Fischer J, Engelhardt J, Hubrich J, Keller-Findeisen J, D'Este E, Urban NT, Grant SGN, Sahl SJ, Kamin D, Hell SW. Robust nanoscopy of a synaptic protein in living mice by organic-fluorophore labeling. Proc. Natl. Acad. Sci. USA 2018; 115, E8047-E8056.
May S, Owen H, Phesse TJ, Greenow KR, Jones GR, Blackwood A, Cook PC, Towers C, Gallimore AM, Williams GT, Sturzl M, Britzen-Laurent N, Sansom OJ, MacDonald AS, Bird AP, Clarke AR, Parry L. Mbd2 enables tumourigenesis within the intestine while preventing tumour-promoting inflammation. J Pathol 2018; 245(3): 270-282.
Mbizvo GK, Bennett K, Simpson CR, Duncan SE, Chin RFM. Accuracy and utility of using administrative healthcare databases to identify people with epilepsy: a protocol for a systematic review and meta-analysis. BMJ Open. 2018 Jun 30;8(6):e020824. doi: 10.1136/bmjopen-2017-020824
McKay, S, Ryan, TJ, McQueen, J, Marwick, K, Hasel P, Wyllie, DJA, Grant, SGN, O'Dell T, Hardingham, GE* & Komiyama, NH* (2018). Developmental subunit switch of NMDARs proceeds independently of CaMKII-GluN2B coupling and distinct 2A/2B C-termini-directed events. Cell Reports Oct 23;25(4):841-851. *Co-corresponding.
McKay S, Ryan TJ, McQueen J, Indersmitten T, Marwick KFM, Hasel P, Kopanitsa MV, Baxter PS, Martel MA, Kind PC, Wyllie DJA, O'Dell TJ, Grant SGN, Hardingham GE, Komiyama NH. The developmental shift of NMDA receptor composition proceeds independently of GluN2 subunit-specific GluN2 C-terminal sequences. Cell Rep. 2018; 25, 841-851.
Mi D, Manuel M, Huang YT, Mason JO, Price DJ. Pax6 Lengthens G1 Phase and Decreases Oscillating Cdk6 Levels in Murine Embryonic Cortical Progenitors. Front Cell Neurosci. 2018 Nov 15;12:419.
Mi D, Li Z, Lim L, Li M, Moissidis M, Yang Y, Gao T, Hu TX, Pratt T, Price DJ, Sestan N, Marín O. Early emergence of cortical interneuron diversity in the mouse embryo. Science. 2018; 360:81-85.
Niemi, M. E. K., Martin, H. C., Rice, D. L., Gallone, G., Gordon, S., Kelemen, M., McAloney, K., McRae, J., Radford, E. J., Yu, S., Gecz, J., Martin, N. G., Wright, C. F., Fitzpatrick, D. R., Firth, H. V., Hurles, M. E., and Barrett, J. C. (2018). Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. Nature 562, 268-271.
Noordally, Z. B. et al. Circadian protein regulation in the green lineage I. A phospho-dawn anticipates light onset before proteins peak in daytime. Biorxiv 287862 (2018) doi:10.1101/287862.
Olley, G., Ansari, M., Bengani, H., Grimes, G. R., Rhodes, J., von Kriegsheim, A., Blatnik, A., Stewart, F. J., Wakeling, E., Carroll, N., Ross, A., Park, S. M., Deciphering, D. D. S., Bickmore, W. A., Pradeepa, M. M., and FitzPatrick, D. R. (2018). BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. Nat Genet 50, 329-332.
O'Neill N, McLaughlin C, Komiyama N, Sylantyev S. (2018). Biphasic Modulation of NMDA Receptor Function by Metabotropic Glutamate Receptors. J Neurosci. 38, 9840-9855.
Pakan JMP*, Currie SP*, Fischer L*, Rochefort NL. The Impact of Visual Cues, Reward, and Motor Feedback on the Representation of Behaviorally Relevant Spatial Locations in Primary Visual Cortex. Cell Reports. 2018; 24(10):2521-2528.
Pakan JMP, Francioni V, Rochefort NL, Action and learning shape the activity of neuronal circuits in the visual cortex, Current Opinion in Neurobiology, 2018; 1;52:88-97.
Pardo L, Valor, LM, Eraso A, Barco A, Golbano, A, Hardingham GE, Masgrau R, & Galea E. (2018) CREB Regulates Distinct Adaptive Transcriptional Programs in Astrocytes and Neurons. Scientific Reports Jul 25;7(1):6390.
Patel D., Anilkumar S., Chattarji S., Buwalda B. (2018) Repeated social stress leads to contrasting patterns of structural plasticity in the amygdala and hippocampus. Behavioral Brain Research 347: 314 – 324.
Perkins EM, Clarkson YL, Suminaite D, Lyndon AR, Tanaka K, Rothstein JD, Skehel P, Wyllie DJA & Jackson M. (2018). Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells. Hum Mol Genet 27, 2614-2627. PMID: 29741614
Pridans C, Raper A, Davis GM, Lefevre L, Regan T, Grabert K, Meek S, Sutherland L, Thomson AJ, Cheeseman MT, Sauter KA, Clohisey S, Rojo R, Lisowski ZM, Alves J, Wallace R, Upton KR, Brown D, Smith LB, Mabbott NA, Piccardo P, Burdon T, Hume DA. Pleiotropic impacts of macrophage and microglial deficiency on development in rats with targeted mutation of the Csf1r locus. J Immunol. 2018 Nov 1;201(9):2683-2699.
Pridans C, Sauter KA, Irvine KM, Davis GM, Lefevre L, Raper A, Rojo R, Nirmal AJ, Beard P, Cheeseman M, Hume DA. (2018) Macrophage colony stimulating factor increases hepatic macrophage content, liver growth and lipid accumulation in neonatal rats. Am J Physiol Gastrointest Liver Physiol. Mar 1;314(3):G388-G398.
*Pujar SS, Martinos M, Cortina-Borja M, Kling Chong WK, De Haan M, Gillberg C, Neville BG, Scott RC, Chin RF; North London Epilepsy Research Network. Long-term prognosis after childhood status epilepticus. Lancet Child Adolesc Health. 2018 Feb;2(2):103-111. doi: 10.1016/S2352-4642(17)30174-8. (Main Initiator)
Qiu J, Dando O, Baxter P, Hasel P, Heron S, Simpson TI, and Hardingham GE (2018). Mixed species RNA-seq for elucidating non cell-autonomous gene regulation. Nature Protocols Oct;13(10):2176-2199.
Quintana-Urzainqui I, Kozić Z, Mitra S, Tian T, Manuel M, Mason JO, Price DJ. Tissue-Specific Actions of Pax6 on Proliferation and Differentiation Balance in Developing Forebrain Are Foxg1 Dependent. iScience. 2018 Dec 21;10:171-191.
Rahman M. M., Shukla A., Chattarji S. (2018) Extinction recall of fear memories formed before stress is not affected despite amygdalar hyperactivity. eLife DOI: 10.7554/eLife.35450
Robertson AE, Stanfield AC, Watt J, Barry F, Day M, Cormack M, Melville C. The experience and impact of anxiety in autistic adults: A thematic analysis. Res in Autism Spectrum Dis. 2018; 46:8-18.
Roy M, Sorokina O, Skene N, Simonnet C, Mazzo F, Zwart R, Sher E, Smith C, Armstrong JD, Grant SGN. Proteomic analysis of postsynaptic proteins in regions of the human neocortex. Nat. Neurosci. 2018; 21(1), 130-138.
Roy M, Sorokina O, McLean C, Tapia-González S, DeFelipe J, Armstrong JD, Grant SGN. Regional diversity in the postsynaptic proteome of the mouse brain. Proteomes 2018; 6, E31.
Ruiz-Reig N, Andres B, Lamonerie T, Theil T, Fairén A, Studer M. The caudo-ventral pallium is a novel pallial domain expressing Gdf10 and generating Ebf3-positive neurons of the medial amygdala. Brain Struct Funct. 2018; 223, 3279-3295.
Saxena K, Webster J, Hallas-Potta A, Mackenzie R, Spooner PA, Thomson D, Kind PC, Chattarji S, Morris RGM. Experimental contributions to social dominance in a rat model of Fragile X Syndrome. Biological Sciences (2018) 285:20181334Skene NG, Roy M, Grant SG. A genomic lifespan program that reorganises the young adult brain is targeted in schizophrenia. Elife 2917; 6, pii: e17915.
Schmidt T, Solimani F, Pollmann R, Stein R, Schmidt A, Stulberg I, Kühn K, Eming R, Eubel V, Kind PC, Arweiler N, Sitaru C, Hertl M. (2018) TH1/TH17 cell recognition of desmoglein 3 and bullous pemphigoid antigen 180 in patients with lichen planus. J Allergy Clin Immunol. 142(2):669-672
Scott CL, T'Jonck W, Martens L, Todorov H, Sichien D, Soen B, Bonnardel J, De Prijck S, Vandamme N, Cannoodt R, Saelens W, Vanneste B, Toussaint W, De Bleser P, Takahashi N, Vandenabeele P, Henri S, Pridans C, Hume DA, Lambrecht BN, De Baetselier P, Milling SWF, Van Ginderachter JA, Malissen B, Berx G, Beschin A, Saeys Y, Guilliams M. (2018) The Transcription Factor ZEB2 Is Required to Maintain the Tissue-Specific Identities of Macrophages. Immunity. Aug 21;49(2):312-325.e5.
Sehgal A*, Donaldson DS*, Pridans C, Sauter KA, Hume DA, Mabbott NA. (2018) The role of CSF1R-dependent macrophages in control of the intestine stem-cell niche. Nat Commun. Mar 28;9(1):1272.
Selvaraj BT, Livesey MR, Zhao C, Gregory J, James OT, Cleary EM, Chouhan AK, Gane A, Perkins EM, Dando O, Lillico SG, Lee Y-B, Nishimura AL, Poreci U, Thankamony S, Pray M, Vasistha NA, Magnani D, Borooah S, Burr K, Story D, McCampbell A, Shaw CE, Kind PC, Aitman TJ, Whitelaw CBA, Wilmut I, Smith C, Miles GB, Hardingham GE, Wyllie DJA, Chandran S. C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity. Nat Commun 2018; 9, 347 doi: 10.1038/s41467-017-02729-0 PMID: 29367641
Sigfridsson E, Marangoni M, Johnson J, Hardingham GE, Fowler J, Horsburgh KH (2018). Astrocyte-specific overexpression of Nrf2 protects against optic tract damage and behavioural alterations in a mouse model of cerebral hypoperfusion Scientific Reports Aug 22;8(1):12552.
Sherman, D.L. and P.J. Brophy (2018). A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands. Wellcome Open Res. 3, 20. PMCID: 5861512 97. Short, P. J., McRae, J. F., Gallone, G., Sifrim, A., Won, H., Geschwind, D. H., Wright, C. F., Firth, H. V., FitzPatrick, D. R., Barrett, J. C., and Hurles, M. E. (2018). De novo mutations in regulatory elements in neurodevelopmental disorders. Nature 555, 611-616.
Shukla A, Beroun A, Panopoulou M, Neumann PA, Grant SG, Olive MF, Dong Y, Schlüter OM. Calcium-permeable AMPA receptors and silent synapses in cocaine-conditioned place preference. EMBO J. 2017; 36, 458-474.
Smigiel, R., D.L Sherman, M. Rydzanicz, A. Walczak, D. Mikolajkow, B. Krolak-Olejnik, J. Kosinska, P. Gasperowicz, A. Biernacka, P. Stawinski, M. Marciniak, W. Andrzejewski, M. Boczar, P. Krajewski, M.M. Sasiadek, P.J. Brophy* and R. Ploski* (2018) Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. Hum. Mol. Genet. 27, 3669-3674. PMCID: 6196652 *Joint senior authors
Tennant S.A., Fischer L., Garden D.L.F., Gerlei K.Z., Martinez-Gonzalez C., McClure C., Wood E.R. & Nolan M.F. (2018). Stellate cells in the medial entorhinal cortex are required for spatial learning. Cell Reports, 22(5): 1313-1324. PMCID: PMC5809635.
Tester, D. J., Wong, L. C. H., Chanana, P., Jaye, A., Evans, J. M., FitzPatrick, D. R., Evans, M. J., Fleming, P., Jeffrey, I., Cohen, M. C., Tfelt-Hansen, J., Simpson, M. A., Behr, E. R., and Ackerman, M. J. (2018). Cardiac Genetic Predisposition in Sudden Infant Death Syndrome. J Am Coll Cardiol 71, 1217-1227.
Tillmann J, +27 others including Stanfield AC. Evaluating Sex and Age Differences in ADI-R and ADOS Scores in a Large European Multi-site Sample of Individuals with Autism Spectrum Disorder. J Autism Dev Disord. 2018; 48(7):2490-2505.
Turtaev S, Leite IT, Altwegg-Boussac T, Pakan JMP, Rochefort NL*, Čižmár T*. High-fidelity multimode fibre-based endoscopy for deep-brain in vivo imaging, Light: Science & Applications, 2018; vol. 7, Article number: 92.
Uttam S, Wong C, Amorim IS, Jafarnejad SM, Tansley SN, Yang J, Prager-Khoutorsky M, Mogil JS, Gkogkas CG, Khoutorsky A. Translational profiling of dorsal root ganglia and spinal cord in a mouse model of neuropathic pain. Neurobiol Pain. 2018 Aug-Dec;4:35-44. doi: 10.1016/j.ynpai.2018.04.001. Epub 2018 Apr 18.
Vida I, Degro CE, Booker SA; Morphology of Hippocampal Neurons; Hippocampal Microcircuits: A Computational Modellers Resource Book 2nd edition; 2018
Viswanath, B. et al., (2018) Discovery biology of neuropsychiatric syndromes (DBNS): a center for integrating clinical medicine and basic science, BMC Psychiatry, 18:106; DOI: 10.1186/s12888-018-1674-2
Waddell LA, Lefevre L, Bush SJ, Raper A, Young R, Lisowski ZM, McCulloch MEB, Muriuki C, Sauter KA, Clark EL, Irvine KM, Pridans C, Hope JC, Hume DA. (2018) ADGRE1 (EMR1, F4/80) Is a Rapidly-Evolving Gene Expressed in Mammalian Monocyte-Macrophages. Front Immunol. Oct 1;9:2246.
Walter V, Mbizvo G, Chin RFM. Stimulant and non-stimulant drug therapy for people with attention deficit hyperactivity disorder and epilepsy. Cochrane database of systematic reviews (Online) 2018(1). DOI: 10.1002/14651858.CD013136
Wegner W, Mott AC, Grant SGN, Steffens H, Willig KI. In vivo STED microscopy visualizes PSD95 sub-structures and morphological changes over several hours in the mouse visual cortex. Sci. Rep. 2018; 8(1), 219.
Wright, C. F., FitzPatrick, D. R., and Firth, H. V. (2018a). Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet 19, 253-268.
Wright, C. F., McRae, J. F., Clayton, S., Gallone, G., Aitken, S., FitzGerald, T. W., Jones, P., Prigmore, E., Rajan, D., Lord, J., Sifrim, A., Kelsell, R., Parker, M. J., Barrett, J. C., Hurles, M. E., FitzPatrick, D. R., Firth, H. V., and DDD, S. (2018b). Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Genet Med 20, 1216-1223.
Wyllie DJA Modelling the details: integrating structure with function. J Physiol 2018; 596, 3833-3834. PMID: 30024035
Yoong M, Hunter M, Stephen J, Quigley A, Jones J, Shetty J, McLellan A, Bastin ME, Chin RFM. Cognitive impairment in early onset epilepsy is associated with reduced left thalamic volume. Epilepsy Behav. 2018 Mar;80:266-271. doi: 10.1016/j.yebeh.2018.01.018.
Young R, Bush SJ, Lefevre L, McCulloch MEB, Lisowski ZM, Muriuki C, Waddell LA, Sauter KA, Pridans C, Clark EL, Hume DA. (2018) Species-Specific Transcriptional Regulation of Genes Involved in Nitric Oxide Production and Arginine Metabolism in Macrophages. Immunohorizons. Jan 1;2(1):27-37.
Youssef EA, Berry-Kravis E, Czech C, Hagerman RJ, Hessl D, Wong CY, Rabbia M, Deptula D, John A, Kinch R, Drewitt P, Lindemann L, Marcinowski M, Langland R, Horn C, Fontoura P, Santarelli L, Quiroz JA; FragXis Study Group. Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results. Neuropsychopharmacology. 2018; 43(3):503-512.
Zhu F, Cizeron M, Qiu Z, Benavides-Piccione R, Kopanitsa MV, Skene NG, Koniaris B, DeFelipe J, Fransén E, Komiyama NH, Grant SGN. Architecture of the mouse brain synaptome. Neuron 2018; 99, 781-799

2019 Publications

Abbott CM. Precision medicine in epilepsy-the way forward? ACS Chem. Neurosci. 2019;10 (4): 2080–2081.
Aitken, S., Firth, H. V., McRae, J., Halachev, M., Kini, U., Parker, M. J., Lees, M. M., Lachlan, K., Sarkar, A., Joss, S., Splitt, M., McKee, S., Németh, A. H., Scott, R. H., Wright, C. F., Marsh, J. A., Hurles, M. E., FitzPatrick, D. R., and DDD, S. (2019). Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data. Am J Hum Genet 105, 933-946.
Asiminas A, Jackson AD, Louros SR, Till SM, Spano T, Dando O, Bear MF, Chattarji S, Hardingham GE, Osterweil EK, Wyllie DJA, Wood ER, Kind PC (2019). Sustained correction of associative learning deficits following brief, early treatment in a rat model of Fragile X Syndrome. Sci Transl Med 2019; 11eaao0498. PMID: 31142675
Bach A, Clausen BH, Kristensen LK, Andersen MG, Ellman DG, Hansen PBL, Hasseldam H, Heitz M, Özcelik D, Tuck EJ, Kopanitsa MV, Grant SGN, Lykke-Hartmann K, Johansen FF, Lambertsen KL, Strømgaard K. Selectivity, efficacy and toxicity studies of UCCB01-144, a dimeric neuroprotective PSD-95 inhibitor. Neuropharmacology 2019; 150, 100-111.
Bas-Orth C, Schneider J, Lewen A, McQueen J, Hasenpusch-Theil K, Theil T, Hardingham GE, Bading H, and Kann O (2019). The mitochondrial calcium uniporter is crucial for the generation of fast cortical network rhythms. The Journal of Cerebral Blood Flow & Metabolism. 40(11):2225-2239.
Benabdallah, N.S., Williamson, I., Illingworth, R.S., Kane, L., Boyle, S., Sengupta, D., Grimes, G.R., Therizols, P., and Bickmore, W.A. (2019). Decreased Enhancer-Promoter Proximity Accompanying Enhancer Activation. Mol Cell 76, 473-484 e477. 10.1016/j.molcel.2019.07.038.
Booker SA, Domanski APF, Dando O, Jackson AD, Isaac JTR, Hardingham GE, Wyllie DJA, Kind PC. Altered dendritic spine function and integration in a mouse model of Fragile X Syndrome. Nat Commun. 2019; 10 (4): 4813.
Booker SA, Domanski AP Dando O, Isaac JC, Hardingham GE, Wyllie DJ, Kind PC (2019). Altered structure-function relationship of dendritic spines in Fmr1-/y mice. Nature Communications Oct 23;10(1):4813.
Briese, M*., Haberman, N*., Sibley, C. R*., Faraway, R., Elser, A. S., Chakrabarti, A. M., Wang, Z., Konig, J., Perera, D., Wickramasinghe, V. O., Venkitaraman, A. R., Luscombe, N. M., Saieva, L., Pellizzoni, L., Smith, C. W. J., Curk, T. & Ule, J. A systems view of spliceosomal assembly and branchpoints with iCLIP. Nat Struct Mol Biol. (2019), 26;930-940. * = co-first author
Brown SSG, Whalley HC, Kind PC, Stanfield AC. Decreased functional brain response to emotional arousal and increased psychiatric symptomology inFMR1 premutation carriers. Psychiatry Res Neuroimaging. 2019; 285:9-17.
Bugai, A., Quaresma, A. J. C., Friedel, C. C., Lenasi, T., Duster, R., Sibley, C. R., Fujinaga, K., Kukanja, P., Hennig, T., Blasius, M., Geyer, M., Ule, J., Dolken, L. & Barboric, M. P-TEFb Activation by RBM7 Shapes a Pro-survival Transcriptional Response to Genotoxic Stress. Mol Cell. (2019) 74, 254-267 e210.
Chakraborty P and Chattarji S (2019) Interventions after acute stress prevent its delayed effects on the amygdala. Neurobiology of Stress DOI: 10.1016/j.ynstr.2019.100168
Chanaday N.I., Cousin M.A., Milosevic, I., Watanabe S. and Morgan J.R. (2019) The Synaptic vesicle cycle revisited: New insights into the modes and mechanisms J. Neurosci., 2019; 39: 8209-8216.
Cheung G and Cousin M.A. Synaptic vesicle generation from activity-dependent bulk endosomes requires a dephosphorylation-dependent dynamin – syndapin interaction. J. Neurochem., 2019; 151: 570-583.
Cholewa-Waclaw J ,Shah R , Webb S, Chhatbar K, Ramsahoye B, Pusch O, Yu M, Greulich P, Waclaw B, Bird AP. Quantitative modelling predicts the impact of DNA methylation on RNA polymerase II traffic. Proc Natl Acad Sci U S A. 2019; 116 (30): 14995-15000.
Clegg JM, Parkin HM, Mason JO, Pratt T. (2019) Heparan Sulfate Sulfation by Hs2st Restricts Astroglial Precursor Somal Translocation in Developing Mouse Forebrain by a Non-Cell-Autonomous Mechanism. J Neurosci. 39:1386-1404.
Clemens AM, Lenschow C, Beed P, Li L, Sammons R, Naumann RK, Wang H, Schmitz D, Brecht M. (2019) Estrus-Cycle Regulation of Cortical Inhibition. Curr Biol. Feb 18;29(4):605-615.e6. doi: 10.1016/j.cub.2019.01.045.
Del Arroyo A.G., Hadjihambi A., Sanchez J., Turovsky E., Kasymov V., Cain D., Nightingale T.D., Lambden S., Grant S.G.N., Gourine A.V. and Ackland G.L. (2019). NMDA receptor modulation of glutamate release in activated neutrophils. EBioMedicine 47, 457-469.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Severity Assessment in CDKL5 Deficiency Disorder. Pediatr Neurol. 2019 Aug;97:38-42.
Domanski APF, Booker SA, Wyllie DJA, Isaac, Kind PC. Cellular and synaptic phenotypes lead to disrupted information processing in Fmr1-KO mouse layer 4 barrel cortex. Nat Commun. 2019; 10 (1): 4814.
Dongaonkar B, Hupbach A, Nadel L, Chattarji S (2019) Differential Effects of Unipolar versus Bipolar Depression on Episodic Memory Updating. Neurobiology of Learning and Memory, Volume 161, May 2019, Pages 158-168. DOI:10.1016/j.nlm.2019.04.008.
Dorà E, Price DJ, Mason JO. Loss of Pax6 Causes Regional Changes in Dll1 Expression in Developing Cerebral Cortex. Front Cell Neurosci. 2019; Mar 6;13:78.
Dwivedi D, Chattarji S, and Bhalla US (2019) Impaired reliability and precision of spiking in adults but not juveniles in a mouse model of Fragile X Syndrome. eNeuro DOI: 10.1523/ENEURO.0217-19.2019
Dylda E*, Pakan JMP*, Rochefort NL. Chronic Two-Photon Calcium Imaging in the Visual Cortex of Awake Behaving Mice, Handbook of Behavioral Neuroscience, Volume 28, Pages 235-251, Edited by D. Manahan-Vaughan, Elsevier. 2019
Francioni, V., Padamsey, Z., and Rochefort, N.L. (2019). High and asymmetric somato-dendritic coupling of V1 layer 5 neurons independent of visual stimulation and locomotion. Elife 8.
Gardner, E. J., Prigmore, E., Gallone, G., Danecek, P., Samocha, K. E., Handsaker, J., Gerety, S. S., Ironfield, H., Short, P. J., Sifrim, A., Singh, T., Chandler, K. E., Clement, E., Lachlan, K. L., Prescott, K., Rosser, E., FitzPatrick, D. R., Firth, H. V., and Hurles, M. E. (2019). Contribution of retrotransposition to developmental disorders. Nat Commun 10, 4630.
Gonzalez-Sulser, A. (2019). Rodent genetic models of neurodevelopmental disorders and epilepsy. Eur. J. Paediatr. Neurol. 24, 66–69.
Gorman, K.M., Meyer, E., Grozeva, D., Spinelli, E., McTague, A., Sanchis-Juan, A., Carss, K.J., Bryant, E., Reich, A., Schneider, A.L., et al. (2019). Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet 104, 948-956. 10.1016/j.ajhg.2019.03.005.
Grant SGN. Synapse diversity and synaptome architecture in human genetic disorders. Hum. Mol. Genet. 2019; pii: ddz178. doi: 10.1093/hmg/ddz178.
Grant SGN. The synaptomic theory of behavior and brain disease. Cold Spring Harb. Symp. Quant. Biol. 2019; 83, doi:10.1101/sqb.2018.83.037887.
Hall, H. N., Williamson, K. A., and FitzPatrick, D. R. (2019). The genetic architecture of aniridia and Gillespie syndrome. Hum Genet 138, 881-898.
Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, Fitzpatrick DR. ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. PLoS Genet. 2019 Mar 11;15(3):e1007605. doi:10.1371/journal.pgen.1007605.
Hardingham GE (2019). NMDA receptor C-terminal signaling in development, plasticity and disease. F1000Research. Aug 30;8. pii: F1000 Faculty Rev-1547
Haworth, S., Shapland, C.Y., Hayward, C., Prins, B.P., Felix, J.F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T.S., Vrijheid, M., et al. (2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nat Commun 10. ARTN 357 10.1038/s41467-018-07863-x.
Hume DA, Caruso M, Ferrari-Cestari M, Summers KM, Pridans C, Irvine KM. Phenotypic impacts of CSF1R deficiencies in humans and model organisms. J. Leukoc. Biol. 2019 Jul 22. doi: 10.1002/JLB.MR0519-143R. [Epub ahead of print] Review.
Hume DA, Irvine KM, Pridans C. The Mononuclear Phagocyte System: The Relationship between Monocytes and Macrophages.Trends Immunol. 2019 Feb;40(2):98-112. Review.
*Hunter MB, Yoong M, Sumpter RE, Verity K, Shetty J, McLellan A, Jones J, Quigley A, Tallur KK, Chin RFM. Neurobehavioral problems in children with early-onset epilepsy: A population-based study. Epilepsy Behav. 2019 Apr;93:87-93. doi: 10.1016/j.yebeh.2019.01.019. (Main Initiator)
Irvine KM, Caruso M, Ferrari-Cestari M, Davis GM, Keshvari S, Sehgal A, Pridans C, Hume DA. Analysis of the impact of Colony Stimulating Factor (CSF)-1 administration in adult rats using a novel Csf1r-mApple reporter gene. J. Leukoc. Biol. (accepted July 26 2019).
Johnstone M, Vasistha NA, Barbu MC, Dando O, Burr K, Christopher E, Glen S, Robert C, Fetit R, Macleod KG, Livesey MR, St. Clair D, Blackwood DHR, Millar K, Carragher NO, Hardingham GE, Wyllie DJA, Johnstone EC, Whalley HC, McIntosh AM, Lawrie SM & Chandran S. Reversal of proliferation deficits caused by chromosome 16p13.11 microduplication through targeting NFĸB signaling: An integrated study of patient-derived neuronal precursor cells, cerebral organoids and in vivo brain imaging. Mol Psychiatry 2019; 24, 294-311. PMID: 30401811.
Johnston, J. J., Williamson, K. A., Chou, C. M., Sapp, J. C., Ansari, M., Chapman, H. M., Cooper, D. N., Dabir, T., Dudley, J. N., Holt, R. J., Ragge, N. K., Schäffer, A. A., Sen, S. K., Slavotinek, A. M., FitzPatrick, D. R., Glaser, T. M., Stewart, F., Black, G. C., and Biesecker, L. G. (2019). NAA10 polyadenylation signal variants cause syndromic microphthalmia. J Med Genet 56, 444-452.
Kaplanis J, Akawi N, Gallone G, McRae JF, Prigmore E, Wright CF, Fitzpatrick DR, Firth HV, Barrett JC, Hurles ME. Deciphering Developmental Disorders study. Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations. Genome Res. 2019 Jul;29(7):1047-1056. doi:10.1101/gr.239756.118.
Kashiwagi Y, Higashi T, Obashi K, Sato Y, Komiyama NH, Grant SGN, Okabe S. Computational geometry analysis of dendritic spines by structured illumination microscopy. Nat. Commun. 2019; 10(1), 1285.
Kinney-Lang E, Ebied A, Auyeung B, Chin RFM&, Escudero J&. Introducing the Joint EEG-Development Inference (JEDI) Model: A Multi-way, Data Fusion Approach for Estimating Paediatric Developmental Scores Via EEG. IEEE Trans Neural Syst Rehabil Eng. 2019 Jan 10. doi: 10.1109/TNSRE.2019.2891827. (&Joint Senior Author).
Klingseisen, A., A-M, Ristoiu, L. Kegel, D.L. Sherman, M. Rubio-Brotons, R.G. Almeida, S. Koudelka, S.K. Benito-Kwiecinski, R.J. Poole, P.J. Brophy and D.A. Lyons (2019) Oligodendrocyte Neurofascin independently regulates both myelin targeting and sheath growth in the CNS. Dev. Cell 51, 730-744 PMCID: 6912162
Koerner MV, K Chhatbar, WS, J Cholewa-Waclaw, J Selfridge, DSD, B Skarnes, B Rosen, M Thomas, JR Bottomley, R Ramirez-Solis, C Lelliott, DJ Adams, Bird A. An Orphan CpG Island Drives Expression of a let-7 miRNA Precursor with an Important Role in Mouse Development. Epigenomes 2019; 3(1).
Kokotos AC, Harper CH, Marland JR, Smillie KJ, Cousin MA*, Gordon SL*. Synaptophysin sustains presynaptic performance by preserving vesicular synaptobrevin-II levels. J. Neurochem. Jun 2019; doi: 10.1111/jnc.14797. [Epub ahead of print].
Li D, Rawle DJ, Wu Z, Jin H, Lin MH, Lor M, Abbott CM and Harrich D. eEF1A demonstrates paralog specific effects on HIV-1 reverse transcription efficiency. Virology 530 65-74 (2019)
Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J,McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME. Deciphering Developmental Disorders study. Pathogenicity and selective constraint on variation near splice sites. Genome Res. 2019 Feb;29(2):159-170. doi:10.1101/gr.238444.118.
Magnani D, Chandran S, Wyllie DJA, Livesey MR. In vitro generation and electrophysiological characterization of OPCs and oligodendrocytes from human pluripotent stem cells. Methods Mol Biol 2019; 1936, 65-77. PMID: 30820893.
Marshall, J.J. and Mason, J.O. (2019) Mouse vs Man: Organoid Models of Brain Development and Disease. Brain Research doi: 10.1016/j.brainres.2019.146427
*Martinos MM, Pujar S, O'Reilly H, de Haan M, Neville BGR, Scott RC, Chin RFM. Intelligence and memory outcomes within 10 years of childhood convulsive status epilepticus. Epilepsy Behav. 2019 Jun;95:18-25. doi: 10.1016/j.yebeh.2019.03.039 (Main Initiator)
Marwick KFM, Hansen KB, Skehel PA, Hardingham GE, Wyllie DJA. Functional assessment of triheteromeric NMDA receptors containing a human variant associated with epilepsy. J Physiol 2019; 597, 1691-1704. PMID: 30604514
Marwick KFM, Skehel, PA, Hardingham GE, Wyllie DJA. The human NMDA receptor GluN2AN615K variant influences channel blocker potency. Pharmacol Res Perspect 2019; e00495. PMID: 31249692
Mbizvo GK, Bennett K, Simpson CR, Duncan SE, Chin RFM. Epilepsy-related and other causes of mortality in people with epilepsy: a systematic review of systematic reviews. Epilepsy Research 2019;157:106192.DOI: 10.1016/j.eplepsyres.2019.106192
McKechanie AG, Barnicoat A, Trender-Gerhard I, Allison M, Stanfield AC. Fragile X-associated conditions: implications for the whole family. British Journal of General Practice 2019; 69 (686): 460-461. DOI: https://doi.org/10.3399/bjgp19X705425
McKechanie AG, Campbell S, Eley SEA, Stanfield AC. Autism in Fragile X Syndrome; A Functional MRI Study of Facial Emotion-Processing. Genes 2019, 10(12), 1052; https://doi.org/10.3390/genes10121052
McLaughlin, K., Flyamer, I.M., Thomson, J.P., Mjoseng, H.K., Shukla, R., Williamson, I., Grimes, G.R., Illingworth, R.S., Adams, I.R., Pennings, S., et al. (2019). DNA Methylation Directs Polycomb-Dependent 3D Genome Re-organization in Naive Pluripotency. Cell Rep 29, 1974-1985 e1976. 10.1016/j.celrep.2019.10.031.
McLachlan F, Martinez Sires A, Abbott CM. The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders. Human Mutation 2019 40(2):131-141.
Mehta AR, Walters R, Waldron FM, Pal S, Selvaraj BT, Macleod MR, Hardingham GE, Chandran S, Gregory JM (2019). Targeting mitochondrial dysfunction in amyotrophic lateral sclerosis – a systematic review and meta-analysis of preclinical research. Brain Communications. doi: 10.1093/braincomms/fcz009.
Michelle, ND, Gowda, N, Tiwari, V, Babu, R, Anand, P, Ghosh Dastidar, S, Singh, R, Selevaraj, BT, Pal, R, Ramesh, A, Chattarji, S, Chandran, S, Gulyani, A, Palakodeti, D, Muddashetty, R (2019) FMRP interacts with C/D box snoRNA in the nucleus and regulates ribosomal RNA methylation. iScience. 12: 368. DOI: 10.1016/j.isci.2019.01.026
Migues, P. V., Wong, J., Lyu, J., and Hardt, O. (2019) NMDA receptor activity bidirectionally controls active decay of long-term spatial memory in the dorsal hippocampus. Hippocampus 29, 883-88.
Munro DAD, Wineberg Y, Tarnick J, Vink CS, Li Z, Pridans C, Dzierzak E, Kalisky T, Hohenstein P, Davies JA. (2019) Macrophages restrict the nephrogenic field and promote endothelial connections during kidney development. Elife. Feb 13;8. pii: e43271. doi: 10.7554/eLife.43271.
Muscas M, Lourous SR, Osterweil EK. Lovastatin, not simvastatin, corrects core phenotypes in a mouse model of Fragile X Syndrome. eNeuro. 2019; May-Jun; 6(3): ENEURO.0097-19.2019. PMCID: PMC6565377.
Myland M, Buysse B, Tsong W, Power GS, Nordli D, Chin RFM. Seizure frequency, healthcare resource utilisation and mortality in childhood epilepsy: a retrospective cohort study using the THIN database. Arch Dis Child. 2019 Jul 4. pii: archdischild-2019-316910.
Nabbout R, Arzimanoglou A, Chin RFM, Grinspan Z, Speechley K, Camfield P. The evaluation and costs of transition programs for youth with epilepsy. Epilepsy Behav. 2019 Jan 6. pii: S1525-5050(18)31024-2. doi: 10.1016/j.yebeh.2018.12.014
Nakajima R, Takao K, Hattori S, Shoji H, Komiyama NH, Grant SGN, Miyakawa T. Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice. Neuropsychopharmacol. Rep., 2019; doi:10.1002/npr2.12073.
Naskar, S and Chattarji, S (2019) Stress elicits contrasting effects on the structure and number of astrocytes in the amygdala versus hippocampus. eNeuro DOI: 10.1523 / ENEURO.0338-18.2019.
Nellåker, C., et al (2019). Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Front Genet 10, 611.
Osterweil EK. Of Mice, men, and NLGN4. Science Translational Medicine. 2019 Sep 04; 11(508). (Commentary)
Osterweil EK. A primate resource for autism. Science Translational Medicine. 2019 Jul 10;11(500). (Commentary)
Osterweil EK. Shank3 puts autism to sleep. Science Translational Medicine. 2019 May 15;11(492). (Commentary)
Osterweil EK. Upsetting the excitatory-inhibitory balance hypothesis of autism. Science Translational Medicine. 2019 Mar 20;11(484). (Commentary)
Patel D, Kas MJ, Chattarji S, Buwalda B (2019) Rodent models of social stress and neuronal plasticity: relevance to depressive-like disorders. Behavioral Brain Research Vol. 369. DOI:10.1016/j.bbr.2019.111900
Pickett EK, Herrmann AG, McQueen J, Abt K, Dando O, Tulloch J, Jain P, Dunnett S, Sedeh S, Fjeldstad M, Calkin W, Murison L, Jackson RJ, Tzioras M, Stevenson A, D’Orange M, Hooley M, Davies C, Rose J, Pitstick R, McKenzie CA, Allison E, Carlson GA, Smith C, Hardt O, Henstridge CM, Hardingham GE, & Spires-Jones TL (2019). Reducing tau ameliorates behavioural and transcriptional deficits in a novel model of Alzheimer’s disease. Cell Reports 29(11):3592-3604.
Pickett EK, Herrmann AG, McQueen J, Abt K, Dando O, Tulloch J, Jain P, Dunnett S, Sohrabi S, Fjeldstad M et al. (2019). Amyloid beta and tau cooperate to cause reversible behavioural and transcriptional deficits in a model of Alzheimer’s disease. Cell Reports.
Preeti MK, Ramakrishna S, Neelagandan N, Chattarji S, Muddashetty RS (2019) NMDAR mediated translation at the synapse is regulated by MOV10 and FMRP. Molecular Brain 12:65. DOI:10.1186/s13041-019-0473-0
Raasakka, A., H. Linxweiler, P.J. Brophy, D.L. Sherman and P. Kursula (2019) Direct Binding of the Flexible C-Terminal Segment of Periaxin to beta4 Integrin Suggests a Molecular Basis for CMT4F. Front. Mol. Neurosci. 12, 84 PMCID: 6465933
Rojo R, Raper A, Ozdemir DD, Lefevre L, Grabert K, Wollscheid-Lengeling E, Bradford B, Caruso M, Gazova I, Sánchez A, Lisowski ZM, Alves J, Molina I, Davtyan H, Lodge RJ, Glover JD, Wallace R, Munro DAD, David E, Amit I, Miron V, Priller J, Jenkins SJ, Hardingham GE, Blurton-Jones M, Mabbott NA, Summers KM, Hohenstein P, Hume DA*, Pridans C*. Deletion of a Csf1r enhancer selectively impacts CSF1R expression and development of tissue macrophage populations. Nat Comms 2019 Jul 19;10(1):3215. doi: 10.1038/s41467-019-11053-8.
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Skourti-Stathaki K, Torlai Triglia E, Warburton M, Voigt P, Bird A, Pombo A. R-Loops Enhance Polycomb Repression at a Subset of Developmental Regulator Genes. Mol Cell 2019; 73(5): 930-945 e934.
Smith AE, Cheek OA, Sweet ELC, Dudchenko PA*, Wood ER*. (2019) Lesions of the head direction cell system impair direction discrimination. Behavioral Neuroscience. 133(6):602-613. doi: 10.1037/bne0000341. * Joint senior/corresponding author.
Sawicka K, Hale CR, Park CY, Fak JJ, Gresack JE, Van Driesche SJ, Kang JJ, Darnell JC, Darnell RB. FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory. eLife 2019;8:e46919 DOI: 10.7554/eLife.46919
Stanfield AC, McKechanie AG, Lawrie SM, Johnstone EC, Owens DGC. Predictors of psychotic symptoms among young people with special educational needs. Br J Psychiatry. 2019; 215 (1): 422-427.Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, GRIN2A study group, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR. GRIN2A-related disorders: genotype and functional consequence predict phenotype. Brain 2019; 142, 80-92. PMID: 30544257
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Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, GRIN2A study group, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G & Lemke JR. (2019). Genotype-phenotype correlation of 247 individuals with GRIN2A-related disorders identifies two distinct phenotypic subgroups associated with different classes of variants, protein domains and functional consequences. Brain 142, 80-92. PMID: 30544257
Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, Hurles ME, Wright CF, Firth HV, Cunningham F, FitzPatrick DR. Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
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Vasistha NA, Johnstone M, Barton SK, Mayerl SE, Thangaraj Selvaraj B, Thomson PA, Dando O, Grünewald E, Alloza C, Bastin ME, Livesey MR, Economides K, Magnani D, Makedonopolou P, Burr K, Story DJ, Blackwood DHR, Wyllie DJA, McIntosh AM, Millar JK, ffrench-Constant C, Hardingham GE, Lawrie SM & Chandran S. (2019). Transplanted t(1;11) patient-derived OPCs form shorter myelin internodes in the hypomyelinated shiverer mice. Mol Psychiatry 24, 1567. PMID: 31645684
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2020 Publications

Abu-Akel A, Philip RCM, Lawrie SM, Johnstone EC, Stanfield AC (2020) Front Psychiatry. Categorical and Dimensional Approaches to Examining the Joint Effect of Autism and Schizotypal Personality Disorder on Sustained Attention. 11:798.
Ainsworth K, Robertson AE, Welsh H, Day M, Watt J, Barry F, Stanfield AC, Melville C. Anxiety in adults with autism: perspectives from practitioners. Res in Autism Spectrum Dis. 2020; 69: 101457.
Anilkumar S, Patel D, de Boer SF, Chattarji S, Buwalda (2020) Decreased dendritic spine density in posterodorsal medial amygdala neurons of proactive coping rats. Behavioral Brain Research org/10.1016/j.bbr.2020.112940.
Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel; Collaborators. Epilepsy and cannabidiol: a guide to treatment. Epileptic Disord. 2020 Feb 1;22(1):1-14. doi: 10.1684/epd.2020.1141. PMID: 32096470.
Banerjee P, Pazaa E, Perkins EM, James OG, Kenkhuis B, Lloyd AF, Burr K, Story D, Yusuf D, He X et al. (2020). Generation of pure monocultures of human microglia-like cells from induced pluripotent stem cells. Stem Cell Research.
Bas-Orth, C., Schneider, J., Lewen, A., McQueen, J., Hasenpusch-Theil, K., Theil, T., Hardingham, G.E., Bading, H., and Kann, O. (2020). The mitochondrial calcium uniporter is crucial for the generation of fast cortical network rhythms. J Cereb Blood Flow Metab 40, 2225-2239.
Benke TA, Kind PC. (2020) Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder. Brain 10.1093 PMID: 32203572
Bennett KH, Pujar SS, Martinos MM, Clark CA, Yoong M, Scott RC, Chin RFM. Subcortical nuclei volumes are associated with cognition in children post-convulsive status epilepticus: Results at nine years follow-up. Epilepsy Behav. 2020 Sep;110:107119. doi: 10.1016/j.yebeh.2020.107119. Epub 2020 Jun 8. PMID: 32526686; PMCID: PMC7479509.
Berentsen, B. et al. MicroRNA-34a Acutely Regulates Synaptic Efficacy in the Adult Dentate Gyrus In Vivo. Mol Neurobiol 57, 1432–1445 (2020).
Bernardo P, Cobb S, Coppola A, Tomasevic L, Di Lazzaro V, Bravaccio C, Manganelli F, Dubbioso R. (2020) Neurophysiological signatures of motor impairment in patients with Rett syndrome. Ann Neurol. 87(5):763-773. doi: 10.1002/ana.25712. PMID: 32129908
Bird, A. (2020). The Selfishness of Law-Abiding Genes. Trends Genet 36, 8-13. 10.1016/j.tig.2019.10.002 PMID: 31662191.
Bird, A. (2020). DNA methylation: mega-year inheritance with the help of Darwin. Curr Biol 30, R302-R328 https://doi.org/10.1016/j.cub.2020.02.034 PMID: 32259507
Bonnycastle K, Kind PC, Cousin MA (2020). FMRP sustains presynaptic function via control of activity-dependent bulk endocytosis. bioRxiv 2020.09.10.291062; doi: https://doi.org/10.1101/2020.09.10.291
Booker SA, Simões de Oliveira L, Anstey N, Kozic Z, Dando OR, Jackson AD, Baxter PS, Isom LL, Sherman D, Hardingham GE, Brophy PJ, Wyllie DJA & Kind PC (2020) Input-output relationship of CA1 pyramidal neurons reveals intact homeostatic mechanisms in a mouse model of fragile X syndrome. Cell Rep 32:107988. doi: 10.1016/j.celrep.2020.107988 PMID: 32783927
Booker, SA, Harada, H, Elgueta, C, Bank, J, Bartos, M, Kulik, A, & Vida, I (2020). Presynaptic GABAB receptors functionally uncouple somatostatin interneurons from the active hippocampal network. eLife, 19;9:e51156. doi: 10.7554/eLife.51156. PMID: 32073397
Booker SA (2020) Preparation of acute brain slices from the dorsal hippocampus of adult rats. Journal of visualized experiments: JoVE, (163) doi: 10.3791/61699.
Boyle, S., Flyamer, I.M., Williamson, I., Sengupta, D., Bickmore, W.A., and Illingworth, R.S. (2020). A central role for canonical PRC1 in shaping the 3D nuclear landscape. Genes Dev 34, 931-949. 10.1101/gad.336487.120.
Broadhead M.J., Bonthron C., Arcinas L., Bez S., Zhu F., Goff F., Nylk J., Dholakia K., Gunn-Moore F., Grant S.G.N. and Miles G.B. (2020). Nanostructural diversity of synapses in the mammalian spinal cord. Sci. Rep. 10, 8189.
Bush SJ, McCulloch MEB, Lisowski ZM, Muriuki C, Clark EL, Young R, Pridans C, Prendergast JGD, Summers KM, Hume DA. (2020) Species-Specificity of Transcriptional Regulation and the Response to Lipopolysaccharide in Mammalian Macrophages. Front Cell Dev Biol. Jul 21;8:661.
Chakraborty P, Datta S, McEwen BS, and Chattarji, S (2020) Corticosterone after acute stress prevents the delayed effects on the amygdala. Neuropsychopharmacology org/10.1038/s41386-020-0758-0.
Chan WK, Griffiths R, Price DJ, Mason JO (2020) Cerebral organoids as tools to identify the developmental roots of autism. Mol. Autism11:58. doi: 10.1186/s13229-020-00360-3.
Chhatbar K, Cholewa-Waclaw J, Shah R, Bird A, Sanguinetti G (2020) Quantitative analysis questions the role of MeCP2 as a global regulator of alternative splicing. PLOS Genetics 16(10):e1009087.
Cif, L., et al. (2020). KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain 143, 3242-3261.
Cizeron M., Qiu Z., Koniaris B., Gokhale R., Komiyama N.H., Fransén E. and Grant S.G.N. (2020). A brainwide atlas of synapses across the mouse lifespan. Science 369, 270-275. doi: 10.1126/science.aba3163
Clegg JM, Pratt T (2020) Organotypic Slice Culture of the Embryonic Mouse Brain. Bio Protoc. 10(13):e3674.
Clemens AM, Wang H & Brecht M (2020) The lateral septum mediates kinship behavior in the rat. Nat Commun 11, 3161.
Cobb SR. (2020) Disrupted inhibition may give clues in understanding neurodevelopmental disorders. Eur J Paediatr Neurol. 24:3. doi: 10.1016/j.ejpn.2020.01.012. PMID: 31973984
Connelly, J.C., Cholewa-Waclaw, Webb, S., Steccanella, V., Waclaw, B. and Bird, A. (2020). Absence of MeCP2 binding to non-methylated GT-rich sequences in vivo. Nucleic Acids Res. https://doi.org/10.1093/nar/gkaa102. PMCID: PMC7144902
Crawford H, Abbeduto L, Hall SS, Hardiman R, Hessl D, Roberts JE, Scerif G, Stanfield AC, Turk J, Oliver C. Fragile X Syndrome: an overview of cause, characteristics, assessment and management. Paediatrics and Child Health. 2020; 30(11):400-403.
Curran O.E., Qiu Z., Smith C. and Grant S.G.N. (2020). A single-synapse resolution survey of PSD95-positive synapses in twenty human brain regions. Eur. J. Neurosci. 54, 6864-6881.
Das Sharma S, Pal R, Reddy BK, Selvaraj BT, Raj N, Samaga KK, Srinivasan DJ, Ornelas L, Sareen D, Livesey MR, Bassell GJ, Svendsen CN, Kind PC, Chandran S, Chattarji S, Wyllie DJA. (2020) Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns. Mol Autism 10.1186 PMID: 32560741
Davies FCJ, Hope JE, McLachlan F, Marshall GF, Kaminioti-Dumont L, Qarkaxhija V, Nunez F, Dando O, Smith C, Wood E, MacDonald J, Hardt O, Abbott CM. (2020). Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function. Human Molecular Genetics. doi:10.1093/hmg/ddaa042.
Digard BG, Sorace A, Stanfield AC, Fletcher-Watson S (2020) Bilingualism in autism: Language learning profiles and social experiences. Autism. 24(8):2166-2177.
Eley SEA, McKechanie AG, Campbell S, Stanfield AC (2020) Facilitating individuals and families affected by fragile X syndrome to participate in medication trials. J Intellect Disabil Res. 64: 864-874
Faith, W., Davies, C. J., Hope, J. E., McLachlan, F., Marshall, G. F., Kaminioti-Dumont, L., Qarkaxhija, V., Nunez, F., Dando O., Smith, C., Wood, E., MacDonald, J., Hardt, O., and Abbott C. M. (2020). Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function in Current Memory Research. Hum. Mol. Gen. 29, 1592-1606.
FitzPatrick, D. R., and Firth, H. V. (2020). Genomically Aided Diagnosis of Severe Developmental Disorders. Annu Rev Genomics Hum Genet 21, 327-349.
Flyamer, I.M., Illingworth, R.S., and Bickmore, W.A. (2020). Coolpup.py: versatile pile-up analysis of Hi-C data. Bioinformatics 36, 2980-2985. 10.1093/bioinformatics/btaa073.
Gerlei K, Passlack J, Hawes I, Vandrey B, Stevens H, Papastathopoulos I and Nolan MF (2020) Grid cells are modulated by local head direction. Nature Communications, 11, 4228. PMCID: PMC7445272.
Ghosh A, Malavasi ELV, Sherman DL and Brophy PJ (2020) Neurofascin and Kv7.3 are delivered to somatic and axon terminal surface membranes en route to the axon initial segment. eLife 9. PMCID: 7511229
Gómez-Puertas, P., Tümer, Z., and Hennekam, R. C. (2020). Delineation of phenotypes and genotypes related to cohesin structural protein RAD21. Hum Genet 139, 575-592.
Grabert K, Sehgal A, Irvine KM, Wollscheid-Lengeling E, Ozdemir DD, Stables J, Luke GA, Ryan MD, Adamson A, Humphreys NE, Sandrock CJ, Rojo R, Verkasalo VA, Mueller W, Hohenstein P, Pettit AR, Pridans C, Hume DA. (2020) A Transgenic Line That Reports CSF1R Protein Expression Provides a Definitive Marker for the Mouse Mononuclear Phagocyte System. J Immunol. Dec 1;205(11):3154-3166.
Grant SGN and Fransén E (2020) The synapse diversity dilemma: molecular heterogeneity confounds studies of synapse function. Front. Synaptic Neurosci. 12:590403, doi:10.3389/fnsyn.2020.590403.
Hardt, O., and Sossin, W. (2020). Epistemological and Terminological Issues in Current Memory Research. Front. Mol Neurosci. 12, 336.
Harper CB, Small C, Davenport EC, Low DW, Smillie KJ, Martínez-Mármol R, Meunier FA and Cousin MA (2020) An epilepsy-associated SV2A mutation disrupts synaptotagmin-1 expression and activity-dependent trafficking. J. Neurosci. 40: 4586-4595.
Hasenpusch-Theil K, et al. (2020) A transient role of the ciliary gene Inpp5e in controlling direct versus indirect neurogenesis in cortical development. Elife 10.7554/eLife.58162
Henschke, J.U., Dylda, E., Katsanevaki, D., Dupuy, N., Currie, S.P., Amvrosiadis, T., Pakan, J.M.P., and Rochefort, N.L. (2020). Reward Association Enhances Stimulus-Specific Representations in Primary Visual Cortex. Curr. Biol. 30, 1866-1880.e5.
Horner AE, Norris RH, McLaren-Jones R, Alexander L, Komiyama NH, Grant SGN, Nithianantharajah J and Kopanitsa MV (2020) Learning and reaction times in mouse touchscreen tests are differentially impacted by mutations in genes encoding postsynaptic interacting proteins SYNGAP1, NLGN3, DLGAP1, DLGAP2 and SHANK2. Genes Brain Behav. e12723. doi: 10.1111/gbb.12723.
Hulme H, Meikle LM, Strittmatter N, van der Hooft JJJ, Swales J, Bragg RA, Villar VH, Ormsby MJ, Barnes S, Brown SL, Dexter A, Kamat MT, Komen JC, Walker D, Milling S, Osterweil EK, MacDonald AS, Schofield CJ, Tardito S, Bunch J, Douce G, Edgar JM, Edrada-Ebel R, Goodwin RJA, Burchmore R, Wall DM. Microbiome-derived carnitine mimics as previously unknown mediators of gut-brain axis communication. Sci Adv. Mar 11 2020 Mar 11;6(11):eaax6328.
Hume DA, Caruso M, Ferrari-Cestari M, Summers KM, Pridans C, Irvine KM. (2020) Phenotypic impacts of CSF1R deficiencies in humans and model organisms. J. Leukoc. Biol. Feb;107(2):205-219.] Review.
Hunter MB, Yoong M, Sumpter RE, Verity K, Shetty J, McLellan A, Chin RFM. Incidence of early-onset epilepsy: A prospective population-based study. Seizure. 2020 Feb;75:49-54. doi: 10.1016/j.seizure.2019.12.020. Epub 2019 Dec 19. PMID: 31874359.
Idigo NJ, Soares DC and Abbott CM. Translation elongation factor 1A2 (eEF1A2) is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish. Biosci Rep. 40(1) (2020)
Irvine KM, Caruso M, Ferrari-Cestari M, Davis GM, Keshvari S, Sehgal A, Pridans C, Hume DA. (2020) Analysis of the impact of Colony Stimulating Factor (CSF)-1 administration in adult rats using a novel Csf1r-mApple reporter gene. J. Leukoc. Biol. Feb;107(2):221-235.
Ivanova D, Imig C, Camacho M, Reinhold A, Guhathakurta D, Montenegro-Venegas C, Cousin MA, Gundelfinger ED, Rosenmund C, Cooper B and Fejtova A (2020) CtBP1-mediated membrane fission contributes to effecitve recycling of synaptic vesicles. Cell Rep. 30: 2444-2459.
Jamjoom AAB, Rhodes J, Andrews PJD and Grant SGN (2020) The synapse in traumatic brain injury. Brain, doi:10.1093/brain/awaa321.
Jarjour AA, Velichkova AN, Boyd A, Lord KM, Torsney C, Henderson DJ, Ffrench- Constant C (2020) The formation of paranodal spirals at the ends of CNS myelin sheaths requires the planar polarity protein Vangl2. Glia. 68(9):1840-1858. doi: 10.1002/glia.23809. Epub PMID: 32125730.
Johansson, J.A., Marie, K.L., Lu, Y., Brombin, A., Santoriello, C., Zeng, Z., Zich, J., Gautier, P., von Kriegsheim, A., Brunsdon, H., et al. (2020). PRL3-DDX21 Transcriptional Control of Endolysosomal Genes Restricts Melanocyte Stem Cell Differentiation. Dev Cell. 10.1016/j.devcel.2020.06.013.
Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., Short, P. J., Torene, R. I., de Boer, E., Danecek, P., Gardner, E. J., Huang, N., Lord, J., Martincorena, I., Pfundt, R., Reijnders, M. R. F., Yeung, A., Yntema, H. G., Deciphering, D. D. S., Vissers, L. E. L. M., Juusola, J., Wright, C. F., Brunner, H. G., Firth, H. V., FitzPatrick, D. R., Barrett, J. C., Hurles, M. E., Gilissen, C., and Retterer, K. (2020). Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586, 757-762.
Kim JY, Bai Y, Jayne LA, Hector RD, Persaud AK, Ong SS, Rojesh S, Raj R, Feng MJHH, Chung S, Cianciolo RE, Christman JW, Campbell MJ, Gardner DS, Baker SD, Sparreboom A, Govindarajan R, Singh H, Chen T, Poi M, Susztak K, Cobb SR, Pabla NS. (2020) A kinome-wide screen identifies a CDKL5-SOX9 regulatory axis in epithelial cell death and kidney injury. Nat Commun. 11(1):1924. doi: 10.1038/s41467-020-15638-6. PMID: 32317630
Kozic Z, Booker SA, Dando OR, Hardingham G, Kind PC. (2020) LAB-AID (Laboratory Automated Interrogation of Data): an interactive web application for visualization of multi-level data from biological experiments. bioRxiv 763318; doi: https://doi.org/10.1101/763318
Krab, L. C., Marcos-Alcalde, I., Assaf, M., Balasubramanian, M., Andersen, J. B., Bisgaard, A. M., Fitzpatrick, D. R., Gudmundsson, S., Huisman, S. A., Kalayci, T., Maas, S. M., Martinez, F., McKee, S., Menke, L. A., Mulder, P. A., Murch, O. D., Parker, M., Pie, J., Ramos, F. J., Rieubland, C., Rosenfeld Mokry, J. A., Scarano, E., Shinawi, M.,
Lebenheim L, Booker SA, Derst C, Weiss T, Gruber C, Vida I, Veh R, (2020) A Novel Giant Striatal Interneuron is Non-Cholinergic, Coexpresses the Vesicular GABA Transporter, Kv3.3, and Parvalbumin, and is Restricted to the Ventrolateral Striatum (Molecular Psychiatry; accepted pending publication)
Mastro TL, Preza A, Basu S, Chattarji S, Till SM, Kind PC, Kennedy MB. (2020) A sex difference in the response of the rodent postsynaptic density to synGAP haploinsufficiency. eLife 10.7554 PMID: 31939740
Mbizvo GK, Bennett KH, Schnier C, Simpson CR, Duncan SE, Chin RFM. The accuracy of using administrative healthcare data to identify epilepsy cases: A systematic review of validation studies. Epilepsia. 2020 Jul;61(7):1319-1335. doi: 10.1111/epi.16547. Epub 2020 May 31. PMID: 32474909.
Mbizvo GK, Schnier C, Simpson CR, Duncan SE, Chin RFM. Validating the accuracy of administrative healthcare data identifying epilepsy in deceased adults: A Scottish data linkage study. Epilepsy Res. 2020 Nov;167:106462. doi: 10.1016/j.eplepsyres.2020.106462. Epub 2020 Sep 13. PMID: 32961444.
McAdam R.L., Morton A., Gordon S.L., Alterman, J.F., Khvorova A., Cousin M.A.* and Smillie K.J.* Loss of huntingtin function slows synaptic vesicle endocytosis in striatal neurons from the httQ140/Q140 mouse model of Huntington's disease. Neurobiol. Dis., 2020; 134: 104637.
McKechanie AG, Lawrie SM, Stanfield AC. The never-changing face of fragile X? Lancet Psychiatry 2020;7:e26.
Munro DAD, Bradford BM, Mariani SA, Hampton DW, Vink CS, Chandran S, Hume DA, Pridans C, Priller J. (2020) CNS macrophages differentially rely on an intronic Csf1r enhancer for their development. Development. Dec 15;147(23):dev194449.
Muscas M, Seo SS, Louros SR, Osterweil EK (2020) A differential effect of lovastatin versus simvastatin in neurodevelopmental disorders. eNeuro. 10:ENEURO.0162-20.2020.
Osterweil EK. Seizing control of Fragile X Syndrome. Science Translational Medicine. 2020 Jan 01; 12(524). (Commentary)
Padamsey Z, Rochefort NL (2020) Defying Expectations: How Neurons Compute Prediction Errors in Visual Cortex. Neuron, Volume 108, Issue 6, Pages 1016-1019.
Pantier R, Chhatbar K, Quante T, Skourti-Stathaki K, Cholewa-Waclaw J, Alston G, Alexander-Howden B, Lee HY, Cook AG, Spruijt CG, Vermeulen M, Selfridge J. and Bird A (2020) SALL4 controls cell fate in response to DNA base composition. Mol Cell 81(4): 1-16 https://doi.org/10.1016/j.molcel.2020.11.046 PMID: 33406384. PMCID: PMC7985904
Pastoll H, Garden DLF, Sürmeli G, Nolan MF (2020) Inter- and intra-animal variation in the integrative properties of stellate cells in the medial entorhinal cortex. eLife, 9:e52258. doi: 10.7554/eLife.52258. PMCID: PMC70675841.
Qiu J, Dando O, Febery JA, Fowler JH, Chandran S and Hardingham GE (2020). Neuronal Activity and Its Role in Controlling Antioxidant Genes. International Journal of Molecular Sciences.
Quintana-Urzainqui I, Hernández-Malmierca P, Clegg JM, Li Z, Kozić Z, Price DJ (2020) The role of the diencephalon in the guidance of thalamocortical axons in mice. Development 147(12):dev184523. doi: 10.1242/dev.184523.
Rao, C., Malaguti, M., Mason, J.O. and Lowell, S. (2020) The transcription factor E2A drives neural differentiation in pluripotent cells. Development 147: doi: 10.1242/dev.184093.
Ratie, L., Desmaris, E., Garcia-Moreno, F., Hoerder-Suabedissen, A., Kelman, A., Theil, T., Bellefroid, E.J., and Molnar, Z. (2020). Loss of Dmrt5 Affects the Formation of the Subplate and Early Corticogenesis. Cereb Cortex 30, 3296-3312.
Santuy A., Tomás-Roca L., Rodríguez J., González‑Soriano J., Zhu F., Qiu Z., Grant S.G.N., DeFelipe J. and Merchan‑Perez A. (2020). Estimation of the number of synapses in the hippocampus and brain-wide by volume electron microscopy and genetic labeling. Sci. Rep. 10, 14014.
Saxena K, Chakraborty P, and Chattarji S (2020) The same stress has divergent effects on social versus asocial manifestations of anxiety-like behavior over time. Stress DOI: 10.1080/10253890.2020.1855421.
Schnier C, Duncan S, Wilkinson T, Mbizvo GK, Chin RFM. A nationwide, retrospective, data-linkage, cohort study of epilepsy and incident dementia. Neurology. 2020 Sep 22;95(12):e1686-e1693. doi: 10.1212/WNL.0000000000010358. Epub 2020 Jul 17. PMID: 32680951.
Shieh, C., et al. (2020). Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med 22, 822.
Siems, S.B., O. Jahn, M.A. Eichel, N. Kannaiyan, L.M.N.Wu, D.L. Sherman, K. Kusch, D. Hesse, R.B. Jung, R. Fledrich, M.W. Sereda, M.J. Rossner, P.J. Brophy and H.B. Werner (2020). Proteome profile of peripheral myelin in healthy mice and in a neuropathy model. eLife 9, PMCID: 7056269
Sigfridsson E, Marangoni M, Hardingham GE, Horsburgh K, Fowler JH (2020). Deficiency of Nrf2 exacerbates white matter damage and microglia/macrophage levels in a mouse model of vascular cognitive impairment Journal of Neuroinflammation 17(1):367.
Spedding M, Chattarji S, Spedding C, Jay TM (2020) Brain circuits at risk in psychiatric diseases and pharmacological pathways. Therapies DOI:10.1016/j.therap.2020.12.005.
Stephen J, Weir CJ, Chin RF. Temporal trends in incidence of Rolandic epilepsy, prevalence of comorbidities and prescribing trends: birth cohort study. Arch Dis Child. 2020 Jun;105(6):569-574. doi: 10.1136/archdischild-2019-318212. Epub 2020 Jan 14. PMID: 31937568; PMCID: PMC7285789.
Todd AC and Hardingham GE (2020) The regulation of astrocytic glutamate transporters in health and neurodegenerative diseases. International Journal of Molecular Sciences 21(24):9607.
Tulloch, J., Netsyk, O., Pickett, E. K., Herrmann, A. G., Jain, P., Stevenson, S., Oren, I., Hardt, O., and Spires-Jones, T. L. (2020). Maintained memory and long-term potentiation in a mouse model of Alzheimer’s disease with both amyloid pathology and human tau. Eur. J. Neurosci. 53, 637-648.
Tian T, Quintana-Urzainqui I, Kozić Z, Pratt T, Price DJ. Pax6 loss alters the morphological and electrophysiological development of mouse prethalamic neurons. BioRxiv 2021.03.22.436455; doi: https://doi.org/10.1101/2021.03.22.436455.
Vandrey B, Garden DLF, Ambozova V, McClure C, Nolan MF*, Ainge JA* (2020) Fan cells in layer 2 of lateral entorhinal cortex are critical for episodic-like memory. Current Biology, 30(1): 169-175.e5. PMCID: PMC6947484.
Velasco-Estevez M, Gadalla KKE, Liñan-Barba N, Cobb S, Dev KK, Sheridan GK. (2020) Inhibition of Piezo1 attenuates demyelination in the central nervous system.Glia. 2020 Feb;68(2):356-375. doi: 10.1002/glia.23722. PMID: 31596529
Venkatasubramani JP, Subramanyam P, Pal R, Reddy BK, Srinivasan D, Chattarji S, Iossifov I, Klann E, Bhattacharya A (2020) N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells. Neurobiology of Learning & Memory DOI:10.1016/j.nlm.2020.107203.
Williamson, K. A., Hall, H. N., Owen, L. J., Livesey, B. J., Hanson, I. M., Adams, G. G. W., Bodek, S., Calvas, P., Castle, B., Clarke, M., Deng, A. T., Edery, P., Fisher, R., Gillessen-Kaesbach, G., Heon, E., Hurst, J., Josifova, D., Lorenz, B., McKee, S., Meire, F., Moore, A. T., Parker, M., Reiff, C. M., Self, J., Tobias, E. S., Verheij, J. B. G. M., Willems, M., Williams, D., van Heyningen, V., Marsh, J. A., and FitzPatrick, D. R. (2020). Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Genet Med 22, 598-609.
Wong H, Hooper AWM, Niibori Y, Lee SJ, Hategan LA, Zhang L, Karumuthil-Melethil S, Till SM, Kind PC, Danos O, Bruder JT, Hampson DR. Sexually dimorphic patterns in electroencephalography power spectrum and autism-related behaviors in a rat model of fragile X syndrome. Neurobiol Dis. 2020 Dec;146:105118. doi: 10.1016/j.nbd.2020.105118. Epub 2020 Oct 6. PMID: 33031903.
Yasmin F, Colangeli R, Morena M, Filipski S, van der Stelt M, Pittman QJ, Hillard CJ, Teskey GC, McEwen BS, Hill MN, and Chattarji S (2020) Stress-induced modulation of endocannabinoid signalling leads to delayed strengthening of synaptic connectivity in the amygdala. Proc. Natl. Acad. Sci. USA DOI: 10.1073/pnas.1910322116.
Yong XLH, Cousin MA and Anggono V (2020) PICK1 controls activity-dependent synaptic vesicle cargo retrieval. Cell Reports 33:108312.
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Zhao C, Devlin A, Chouhan AK, Selvaraj BT, Burr K, Brivio V, Mehta AR,. Shaw CE, Dando O, Hardingham GE, Miles GB, Chandran S (2020). Mutant C9orf72 human iPSC-derived astrocytes cause non-cell autonomous motor neuron pathophysiology. Glia 68(5):1046-1064.
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Zoupi L, Booker SA, Eigel D, Werner C, Kind PC, Spires-Jones TL, Newland B, Williams AC. Selective vulnerability of inhibitory networks in multiple sclerosis. Acta Neuropathol. 2021 Mar;141(3):415-429. doi: 10.1007/s00401-020-02258-z. Epub 2021 Jan 15. PMID: 33449171; PMCID: PMC7882577.

2021 Publications

Al-Mubarak BR, Bell FS, Chowdhry S, Meakin PJ, Baxter PS, McKay S, Dando O, Michael L. J. Ashford MLJ, Gazaryan I, Hayes JD & Hardingham GE (2021) . Non-canonical Keap1-independent activation of Nrf2 in astrocytes by mild oxidative stress. Redox Biology Nov;47:102158.
Arkell, D., Groves, I., Wood, E. R., and Hardt, O. (2021) The Black Box effect: sensory stimulation after learning interferes with the retention of long-term object location memory in rats. Learn. Mem. 28, 390-399.
Barton SK, Magnani D, James OG, Livesey MR, Selvaraj BT, James OT, Perkins EM, Gregory JM, Cleary E, Asemus R, Carter R, Vasistha NA, Zhao C, Burr K, Story D, Cardinali A, Morton NM, Hardingham GE, Wyllie DJA & Chandran S (2021). TDP-43 proteinopathy in oligodendrocytes revealed using an induced pluripotent stem cell model. Brain Communications
Baxter PS, Dando O, Emelianova K, He X, McKay S, Hardingham GE and Qiu J (2021). Microglial identity and inflammatory responses are controlled by the combined effects of neurons and astrocytes. Cell Reports.
Baxter P, Márkus NM, Dando O, He X, Qiu J and Hardingham GE (2021). Targeted de-repression of neuronal Nrf2 inhibits α-synuclein aggregate accumulation. Cell Death and Disease. Feb 26;12(2):218.
Bengani H, Grozeva D, Moyon L, Bhatia S, Ribeiro dos Louros S, Hope J, Jackson A, Prendergast JG, Barnes, Naville SM, Rainger J, Grimes G, Halachev M, Murphy L, Spasic-Boskovic O, van Heyningen V, Kind P, Abbott CM, Osterweil E, Raymond FL, Roest Crollius H, FitzPatrick DR. Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease. PLoS One16(8):e0256181. doi: 10.1371/journal.pone.0256181 (2021).
Bengani, H., Grozeva, D., Moyon, L., Bhatia, S., Louros, S. R., Hope, J., Jackson, A., Prendergast, J. G., Owen, L. J., Naville, M., Rainger, J., Grimes, G., Halachev, M., Murphy, L. C., Spasic-Boskovic, O., van Heyningen, V., Kind, P., Abbott, C. M., Osterweil, E., Raymond, F. L., Roest Crollius, H., and FitzPatrick, D. R. (2021). Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. PLoS One 16, e0256181.
Bonneau M, O’Sullivan ST, Gonzalez-Lozano MA, Baxter P, Gautier P, Marchisella E, Hardingham NR, Chesters RA, Torrance H, Howard DM, Jansen M, McMillan M, Singh Y, Didier M, Koopmans F, Semple CA, McIntosh AM, Volkmer H, Loos M, Fox K, Hardingham GE, Vernon AC, Porteous DJ, Smit AB, Price DJ, Kirsty Millar JK (2021). Functional brain defects in a mouse model of a chromosomal t(1;11) translocation that disrupts DISC1 and confers increased risk of psychiatric illness. Translational Psychiatry Feb 19;11(1):135.
Bonnycastle K, Kind PC, Cousin MA. FMRP sustains presynaptic function via control of activity-dependent bulk endocytosis. J Neurosci. 2022 Jan 7:JN-RM-0852-21. doi: 10.1523/JNEUROSCI.0852-21.2021. Epub ahead of print. PMID: 34996816.
Bonnycastle K.*, Davenport E. C.* and Cousin M.A. Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle. J. Neurochem., 2021; 157: 179-207.
Booker SA, Sumera A, Kind PC & Wyllie DJA (2021). Contribution of NMDA receptors to synaptic function in rat hippocampal interneurons. ENEURO.0552-20.2021 doi: 10.1523/ENEURO.0552-20.2021 PMID: 34326063
Booker SA & Wyllie DJA (2021). NMDA receptor function in inhibitory neurons. Neuropharmacology 196, 108609 doi.org/10.1016/j.neuropharm.2021.108609 PMID: 34000273
Booker, S. A., & Kind, P. C. (2021). Mechanisms regulating input-output function and plasticity of neurons in the absence of FMRP. Brain Research Bulletin, 175, 69-80.
Cao H, Neerincx A, de Bono B, Lakner U, Huntington C, Elvin J, Gudgin E, Pridans C, Vickers MA, Huntly B, Trowsdale J, Barrow AD. (2021) Sialic acid-binding immunoglobulin-like lectin (Sigelac)-15 is a rapidly internalised cell-surface antigen expressed by acute myeloid leukaemia cells. Br J Haematol. Jun;193(5):946-950.
Cardona-Alberich A, Tourbez M, Pearce SF, Sibley CR. Elucidating the cellular dynamics of the brain with single-cell RNA sequencing. RNA Biol. (2021) Jul;18(7):1063-1084.
Chakraborty P, Chattarji S, Jeanneteau F (2021) A salience hypothesis of stress in PTSD. European Journal of Neuroscience DOI: 10.1111/ejn.15526.
Chan, W.K., Fetit, R., Griffiths, R., Marshall, H., Mason, J.O. and Price, D.J. (2021) Using organoids to study human brain development and evolution. Dev Neurobiol doi: 10.1002/dneu.22819
Clayton E.L., Bonnycastle K., Isaacs A.M., Cousin M.A., Schorge S. A novel synaptopathy: defective synaptic vesicle protein trafficking in the mutant CHMPB2 model of frontotemporal dementia. J. Neurochem., 2021; doi: 10.1111/jnc.15551.
Clegg JM, Pratt T (2021) Ligand and Carbohydrate Engagement (LACE) Assay and Fluorescence Quantification on Murine Neural Tissue. .Bio Protoc. 11(6):e3952.
Clemens, A.M., Khodakhah, K., Fenton, A. Navigating clues to success in academia. Neuron. 2021.
Clemens A.M. ¥*** and Brecht M. Neural Representations of Kinship. Current Opinion in Neurobiology. 2021. Malavasi, E.L.V., A. Ghosh, D.G. Booth, M. Zagnoni, D.L. Sherman and P.J. Brophy (2021). Dynamic early clusters of nodal proteins contribute to node of Ranvier assembly during myelination of peripheral neurons. eLife 10. PMCID: 8289411
Cousin M.A. and Smillie K.J. Monitoring activity-dependent bulk endocytosis in primary neuronal culture using large fluorescent dextrans. Methods Mol. Biol., 2021; 2233: 101-111.
Cousin M.A. Synaptophysin-dependent synaptobrevin-2 trafficking at the presynapse - mechanism and function. J. Neurochem., 2021; 159: 78-89.
Dacre J, Colligan M, Ammer J, Schiemann J, Clarke T, Chamosa-Pino V, Claudi F, Harston JA, Eleftheriou C, Pakan JMP, Huang CC, Hantman A, Rochefort NL and Duguid I (2021). A cerebellar-thalamocortical pathway drives behavioral context-dependent movement initiation. Neuron 109: 1-13. https://doi.org/10.1016/j.neuron.2021.05.016.
Dagleish, M. P. et al. Presence of DNA from Chlamydia-like organisms in the nasal cavities of grey seal pups (Halichoerus grypus) and three different substrates present in a breeding colony. Bmc Vet Res 17, 328 (2021).
Davey K, Wong D, Konopacki F, Kwa E, Ly T, Fiegler H, Sibley CR. A flexible microfluidic system for single-cell transcriptome profiling elucidates phased transcriptional regulators of cell cycle. Sci Rep. (2021) Apr 12;11(1):7918.
Dennis E.J., El Hady A., Michaiel A., Clemens A., Tervo D., Voigts J., Datta S. Systems neuroscience of natural behaviors in rodents. Journal of Neuroscience. 2021.
Dissanayake KN, Margetiny F, Whitmore CL, Chou RC-C, Roesl C, Patel V, McArdle JJ, Webster R, Beeson D, Tattersall J, Wyllie DJA, Eddleston M & Ribchester RR. (2021). Antagonistic postsynaptic and presynaptic actions of cyclohexanol on neuromuscular synaptic transmission and function. J Physiol PMID: 34748643
Fernandes G, Mishra PK, Nawaz MS, Donlin-Asp PG, Hazra A, Rahman MM, Kedia S, Kayenaat A, Songara D, Wyllie DJA, Schuman EM, Kind PC & Chattarji S. (2021). Correction of amygdalar dysfunction in a rat model of fragile X syndrome. Cell Rep 37, 109805. doi.org/10.1016/j.celrep.2021.109805 PMID: 34644573
Fetit R, Hillary RF, Price DJ, Lawrie SM. The neuropathology of autism: A systematic review of post-mortem studies of autism and related disorders. Neurosci Biobehav Rev. 2021 Jul 14;129:35-62.
Flossmann, T., and Rochefort, N.L. (2021). Spatial navigation signals in rodent visual cortex. Curr. Opin. Neurobiol. 67, 163–173.
Gardner, E. J., Sifrim, A., Lindsay, S. J., Prigmore, E., Rajan, D., Danecek, P., Gallone, G., Eberhardt, R. Y., Martin, H. C., Wright, C. F., FitzPatrick, D. R., Firth, H. V., and Hurles, M. E. (2021). Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders. Am J Hum Genet 108, 2186-2194.
Gerlei, Klára Z., Christina M. Brown, Gülşen Sürmeli, and Matthew F. Nolan (2021) Deep Entorhinal Cortex: From Circuit Organization to Spatial Cognition and Memory. Trends in Neurosciences 44 (11): 876–87. https://doi.org/10.1016/j.tins.2021.08.003.
Grosser S, Barreda FJ, Beed P, Schmitz D, Booker SA$, Vida I$. (2021) Parvalbumin interneurons are differentially connected to principal cells in inhibitory feedback microcircuits along the dorsoventral axis of the medial entorhinal cortex. Eneuro. 2021 Jan;8(1).
Gupta, K and Chattarji, S (2021) Sex differences in the delayed impact of acute stress on the amygdala. Neurobiology of Stress DOI: 10.1016/j.ynstr.2020.100292.
Hardingham GE, Petzold GC & Mehta AR (2021). What astrocytes need to do. Lancet Neurology Apr;20(4):260.
Harper C.B., Bumrich E.M. and Cousin M.A. Synaptophysin controls synaptobrevin-II retrieval via a cryptic C-terminal interaction site. J. Biol Chem., 2021; 296: 100296.
Harris E, Myers H, Saxena K, Mitchell-Heggs R, Kind P, Chattarji S, and Morris RGM (2021) Experimental modulation of social dominance in a SYNGAP1 rat model of ASD. European Journal of Neuroscience DOI: 10.1111/ejn.15500.
Hasenpusch-Theil, K., and Theil, T. (2021). The Multifaceted Roles of Primary Cilia in the Development of the Cerebral Cortex. Front Cell Dev Biol 9, 630161.
Horner AE, Norris RH, McLaren-Jones R, Alexander L, Komiyama NH, Grant SGN, Nithianantharajah J, Kopanitsa MV. (2021). Learning and reaction times in mouse touchscreen tests are differentially impacted by mutations in genes encoding postsynaptic interacting proteins SYNGAP1, NLGN3, DLGAP1, DLGAP2 and SHANK2. Genes Brain Behav. 20, e12723.
Hristova, K., Martinez-gonzalez, C., Watson, T.C., Codadu, N.K., Hashemi, K., Kind, P.C., Nolan, M.F., and Gonzalez-sulser, A. (2021). Medial septal GABAergic neurons reduce seizure duration upon optogenetic closed-loop stimulation. Brain 1–15.
Hume DA, Caruso M, Keshvari S, Patkar OL, Sehgal A, Bush SJ, Summers KM, Pridans C, Irvine KM. (2021) The Mononuclear Phagocyte System of the Rat. J Immunol. May 15;206(10):2251-2263.
Ivanova D.*, Dobson K.L., Gajbhiye A., Davenport E.C., Hacker D., Ultanir S.K., Trost M. and Cousin M.A.* Control of synaptic vesicle release probability via VAMP4 targeting to endolysosomes. Science Advances, 2021; 30: 2444-2459.
James, O.G., B.T. Selvaraj, D. Magnani, K. Burr, P. Connick, S.K. Barton, N.A. Vasistha, D.W. Hampton, D. Story, R. Smigiel, R. Ploski, P.J. Brophy, C. ffrench-Constant, D.A. Lyons and S. Chandran (2021). iPSC-derived myelinoids to study myelin biology of humans. Dev. Cell 56, 1346-1358. PMCID: 8098746
Jamjoom A.A.B., Rhodes J., Andrews P.J.D. and Grant S.G.N. (2021). The synapse in traumatic brain injury. Brain 144, 18-31.
Kaiser, V. B., Talmane, L., Kumar, Y., Semple, F., MacLennan, M., Deciphering, D. D. S., FitzPatrick, D. R., Taylor, M. S., and Semple, C. A. (2021). Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome. Genome Res 31, 1994-2007.
Katsanevaki, D., and Rochefort, N.L. (2021). Loss of Inhibition Gives Perspective: Developmental Apoptosis of GABAergic Chandelier Cells Primes Binocular Vision. Neuron 109, 398–400.
Keshvari S, Caruso M, Teakle N, Batoon L, Sehgal A, Patkar OL, Ferrari-Cestari M, Snell CE, Chen C, Stevenson A, Davis FM, Bush SJ, Pridans C, Summers KM, Pettit AR, Irvine KM, Hume DA. (2021) CSF1R-dependent macrophages control postnatal somatic growth and organ maturation. PLoS Genet. Jun 3;17(6):e1009605.
Kind PC, Bird A. CDKL5 deficiency disorder: a pathophysiology of neural maintenance. J Clin Invest. 2021 Nov 1;131(21):e153606. doi: 10.1172/JCI153606. PMID: 34720088; PMCID: PMC8553564.
King D, Skehel PA, Dando O, Emelianova K, Barron R and Wishart TM (2021). Microarray profiling emphasizes transcriptomic differences between hippocampal in vivo tissue and in vitro cultures. Brain Communications.
Kwong KC, Harbham P, Selvaraj BT, Gregory JM, Pal S, Hardingham GE, Chandran S, Mehta AR. (2021) 40 years of CSF toxicity studies in ALS: What have we learnt about ALS pathophysiology? Frontiers in Molecular Neuroscience. Mar 18;14:647895.
Lezmy, J., L. Arancibia-Carcamo, T. Quintela-Lopez, D.L. Sherman, P.J. Brophy and D. Attwell (2021). Astrocyte Ca2+-evoked ATP release regulates myelinated axon excitability and conduction speed. Science, 374, eabh2858.
Loan JJM, Kirby C, Emelianova K, Dando OR, Poon MTC, Pimenova L, Hardingham GE, McColl BW, Klijn CJM, Al-Shahi Salman R et al. (2021). Secondary injury and inflammation after intracerebral haemorrhage: a systematic review and meta-analysis of molecular markers in patient brain. Journal of Neurology, Neurosurgery & Psychiatry
Marshall, G.F., Gonzalez-sulser, A., and Abbott, C.M. (2021). Modelling epilepsy in the mouse : challenges and solutions.Dis Model Mech. 14(3):dmm047449. doi: 10.1242/dmm.047449 (2021)
Martin, H. C., Gardner, E. J., Samocha, K. E., Kaplanis, J., Akawi, N., Sifrim, A., Eberhardt, R. Y., Tavares, A. L. T., Neville, M. D. C., Niemi, M. E. K., Gallone, G., McRae, J., Deciphering, D. D. S., Wright, C. F., FitzPatrick, D. R., Firth, H. V., and Hurles, M. E. (2021). The contribution of X-linked coding variation to severe developmental disorders. Nat Commun 12, 627.
McKechanie AG, Lawrie SM, Whalley HC, Stanfield AC. A functional MRI facial emotion-processing study of autism in individuals with special educational needs. Psychiatry Res Neuroimaging 2021;320:111426.
Mehta AR, Gregory JM, Dando O, Carter RN, Burr K, Nanda J, Story D, McDade K, Smith C, Morton NM, Mahad DJ, Hardingham GE, Chandran S, Selvaraj BT (2021). Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis. Acta Neuropath 141(2):257-279.
Milosevic I. and Cousin M.A. Fine tuning activity-dependent bulk endocytosis via kinases and phosphatases. J. Cell Biol., 2021; 220: e202111056.
Morson S, Yang Y, Price DJ, Pratt T. Expression of Genes in the 16p11.2 Locus during Development of the Human Fetal Cerebral Cortex. Cereb Cortex. 2021 Jul 29;31(9):4038-4052.
Navarro, M. & Simpson, T. I. SFARI Genes and where to find them; classification modelling to identify genes associated with autism spectrum disorder from RNA-seq data. Biorxiv 2021.01.29.428754 (2021) doi:10.1101/2021.01.29.428754.
Nawalpuri, B, Sharma, A, Chattarji, S, Muddashetty, RS (2021) Distinct temporal expression of GW182 in neurons regulates dendritic arborization. Journal of Cell Science DOI: 10.1242/jcs.258465
Nolte K, Fletcher-Watson S, Sorace A, Stanfield A, Digard B. Perspectives and Experiences of Autistic Multilingual Adults: A Qualitative Analysis. Autism in Adulthood. 2021; 3(4):310-319.
Oliveira LS, Sumera A, Booker SA (2021) Repeated whole-cell patch-clamp recording from CA1 pyramidal cells in rodent hippocampal slices followed by axon initial segment labeling. STAR protocols;2(1):100336.
Olley, G., Pradeepa, M. M., Grimes, G. R., Piquet, S., Polo, S. E., FitzPatrick, D. R., Bickmore, W. A., and Boumendil, C. (2021). Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect. Nat Commun 12, 3127.
Padamsey, Z., Katsanevaki, D., Dupuy, N., Rochefort Correspondence, N.L., and Rochefort, N.L. (2021). Neocortex saves energy by reducing coding precision during food scarcity. Neuron 110, 1–17.
Patel D, Anilkumar S, de Boer SF, Chattarji S, Buwalda (2021) Repeated victorious and defeat experience induce similar apical dendritic spine remodeling in CA1 hippocampus of rats. Behavioral Brain Research DOI: 10.1016/j.bbr.2021.113243.
Patkar OL, Caruso M, Teakle N, Keshvari S, Bush SJ, Pridans C, Belmer A, Summers KM, Irvine KM, Hume DA. (2021) Analysis of homozygous and heterozygous Csf1r knockout in the rat as a model for understanding microglial function in brain development and the impacts of human CSF1R mutations. Neurobiol Dis. Apr;151:105.
Perkins EM, Burr K, Banerjee P, Mehta AR, Dando O, Selvaraj BT, Suminaite D, Nanda J, Henstridge CM, Gillingwater TH, Hardingham GE, Wyllie DJA, Chandran S and Livesey MR. (2021) Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction. Molecular Degeneration. Mar 4;16(1):13
Pridans C, Irvine KM, Davis GM, Lefevre L, Bush SJ, Hume DA. (2021) Transcriptomic Analysis of Rat Macrophages. Front Immunol. Feb 1;11:594594.
Ramos-Vicente D., Grant S.G.N. and Bayés À. (2021). Metazoan evolution and diversity of glutamate receptors and their auxiliary subunits. Neuropharmacology 195, 108640.
Rhodes S, Eaton C, Wood R, Stewart T, Chan S, McKechanie A, Skouta E, Rodgers J, Mackie L, Piper A, Oldridge J. Development of a clinical screening instrument for depression symptoms in children with autism. J Appl Res Intellect Disabil 2021;34:1345.
Saxena, K., Spooner, P.A., Mitchell-Heggs, R., and Morris, R.G.M. (2021). iHELMET: A 3D-printing solution for safe endoscopic Ca(2+) recording in social neuroscience. J Neurosci Methods 355, 109109.
Seo SS*, Louros SR*, Anstey N, Gonzales-Lozano MA, Harper CB, Verity NC, Dando O, Thomson SR, Darnell JC, Kind PC, Wyllie DJA, Li KW, and Osterweil EK. Excess ribogenesis unbalances translation in Fragile X Syndrome. In revision Neuron.
Smillie K.J., Cousin M.A. and Gordon S.L. Preface to the Special Issue "Presynaptic Dysfunction and Disease". J. Neurochem., 2021; 157: 102-106.
Siegel-Ramsay JE, Romaniuk L, Whalley HC, Roberts N, Branigan H, Stanfield AC, Lawrie SM, Dauvermann MR. Glutamate and functional connectivity - support for the excitatory-inhibitory imbalance hypothesis in autism spectrum disorders. Psychiatry Res Neuroimaging. 2021; 313:111302.
Smith AE, Wood ER*, Dudchenko PA* (2021). The stimulus control of local enclosures and barriers over head direction and place cell spatial firing. Brain and Behavior, e02070 doi: https://doi.org/10.1002/brb3.2070
Smith-Hicks C, Wright D, Kenny A, Stowe RC, McCormack M, Stanfield AC, Holder JL Jr. Sleep Abnormalities in the Synaptopathies-SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome. Brain Sci. 2021; 11(9):1229.
Sorokina O., Mclean C., Croning M.D.R., Heil K.F., Wysocka E., He X., Sterratt D., Grant S.G.N., Simpson T.I. and Armstrong J.D. (2021). A unified resource and configurable model of the synapse proteome and its role in disease. Sci. Rep. 11, 9967.
Subrahmanyam R, Dwivedi D, Rashid Z, Bonnycastle K, Cousin MA, Chattarji S (2021) Reciprocal regulation of spontaneous synaptic vesicle fusion by Fragile X mental retardation protein and group 1 metabotropic glutamate receptors. Journal of Neurochemistry DOI: 10.1111/jnc.15484.
Tennant, S.A., Hawes, I., Clark, H., Tam, W.K., Hua, J., Yang, W., Gerlei, K., Wood, E.R., and Nolan, M.F. (2021). Readout of a spatial memory by interruption of ramping activity in the retrohippocampal cortex. https://www.biorxiv.org/content/10.1101/2021.03.15.435518v2
Tillotson, R., Cholewa-Waclaw, J., Chhatbar, K., Connelly, J., Kirschner, S.A., Webb, S., Koerner, M.V., Selfridge, J., Kelly, D., De Sousa, D., Brown, K., Lyst, M.J., Kriaucionis, S. and Bird, A. (2021). Neuronal non-CG methylation is an essential target for MeCP2 function. Mol Cell 81, 1-16. https://www.cell.com/molecular-cell/pdfExtended/S1097-2765(21)00011-3 PMCID: PMC7980222
Tomar, A, Polygalov D, Chattarji S, McHugh TJ (2021) Stress enhances hippocampal neuronal synchrony and alters ripple-spike interaction. Neurobiology of Stress DOI: 10.1016/j.ynstr.2021.100327.
van Woerden, G. M., Bos, M., de Konink, C., Distel, B., Avagliano Trezza, R., Shur, N. E., Barañano, K., Mahida, S., Chassevent, A., Schreiber, A., Erwin, A. L., Gripp, K. W., Rehman, F., Brulleman, S., McCormack, R., de Geus, G., Kalsner, L., Sorlin, A., Bruel, A. L., Koolen, D. A., Gabriel, M. K., Rossi, M., Fitzpatrick, D. R., Wilkie, A. O. M., Calpena, E., Johnson, D., Brooks, A., van Slegtenhorst, M., Fleischer, J., Groepper, D., Lindstrom, K., Innes, A. M., Goodwin, A., Humberson, J., Noyes, A., Langley, K. G., Telegrafi, A., Blevins, A., Hoffman, J., Guillen Sacoto, M. J., Juusola, J., Monaghan, K. G., Punj, S., Simon, M., Pfundt, R., Elgersma, Y., and Kleefstra, T. (2021). TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Hum Mutat 42, 445-459.
Wang, M., T. Kleele, Y. Xiao, G. Plucinska, P. Avramopoulos, S. Engelhardt, M.H. Schwab, M. Kneussel, T. Czopka, D.L. Sherman, P.J. Brophy, T. Misgeld and M.S. Brill (2021). Completion of neuronal remodeling prompts myelination along developing motor axon branches. J. Cell Biol. 220, 4. PMCID: 7868780
Watkins JC, Evans RH, Bayés À, Booker SA, Gibb A, Mabb AM, Mayer M, Mellor JR, Molnár E, Niu L, Ortega A, Pankratov Y, Ramos-Vicente D, Rodríguez-Campuzano A, Rodríguez-Moreno A, Wang LY, Wang YT, Wollmuth L, Wyllie DJA, Zhuo M, Frenguelli BG. (2021). 21st Century Excitatory Amino Acid Research: a Q & A with Jeff Watkins and Dick Evans. Neuropharmacology 198, 108743 doi: 10.1016/j.neuropharm.2021.108743 PMID: 34363811
Wright, C. F., Eberhardt, R. Y., Constantinou, P., Hurles, M. E., FitzPatrick, D. R., Firth, H. V., and DDD, S. (2021). Evaluating variants classified as pathogenic in ClinVar in the DDD Study. Genet Med 23, 571-575.
Wyllie DJA (2021). Thesis write-up and manuscript preparation: related but distinct tasks. J Physiol 599, 2771-2775. PMID: 33872415
Yang Y, Booker S, Clegg J, Urzainqui I, Sumera A, Kozic Z, Dando O, Lorenzo S, Herault Y, Kind P, Price D, Pratt T, Identifying developing interneurons as a potential target for multiple genetic autism risk factors in human and rodent forebrain. BioRxiv doi: https://doi.org/10.1101/2021.06.03.446920
Yates, T. M., Lain, A., Campbell, J., Simpson, T. I. & FitzPatrick, D. R. Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders. Medrxiv 2021.11.04.21265878 (2021) doi:10.1101/2021.11.04.21265878.
Zoupi L, Booker SA, Eigel D, Werner C, Kind PC, Spires-Jones TL, Newland B, Williams AC. (2021) Selective vulnerability of inhibitory networks in multiple sclerosis. Acta neuropathologica;141(3):415-29.

2022 Publications

Ghosh Dastidar S, Das Sharma S, Chakraborty S, Chattarji S, Bhattacharya A, Muddashetty RS. (2022) Distinct regulation of bioenergetics and translation by group I mGluR and NMDAR. EMBO Reports 23(2), e54501. doi.org/10.15252/embr.202154501.
James OG, Selvaraj BT, Magnani D, Burr K, Connick P, Barton SK, Vasistha NA, Hampton DW, Story D, Smigiel R, Ploski R, Brophy PJ, Ffrench-Constant C, Lyons DA, Chandran S. iPSC-derived myelinoids to study myelin biology of humans. Dev Cell. 2021 May 3;56(9):1346-1358.e6. doi: 10.1016/j.devcel.2021.04.006. Erratum in: Dev Cell. 2022 Jan 10;57(1):146. PMID: 33945785; PMCID: PMC8098746.
Jiwaji Z, Tiwari SS, Avilés-Reyes RX, Hooley M, Hampton D, Torvell M, Johnson DA, McQueen J, Baxter P, Sabari-Sankar K, Qiu J, He X, Fowler J, Febery J, Gregory J, Rose J, Tulloch J, Loan J, Story D, McDade K, Smith AM, Greer P, Ball M, Kind PC, Matthews PM, Smith C, Dando O, Spires-Jones TL, Johnson JA, Chandran S, Hardingham GE. Reactive astrocytes acquire neuroprotective as well as deleterious signatures in response to Tau and Aß pathology. Nat Commun. 2022 Jan 10;13(1):135. doi: 10.1038/s41467-021-27702-w. PMID: 35013236; PMCID: PMC8748982.
Till SM, Hickson RDL, Kind PC. Cross-species considerations in models of neurodevelopmental disorders. Trends Neurosci. 2022 Jan 5:S0166-2236(21)00253-8. doi: 10.1016/j.tins.2021.12.005. Epub ahead of print. PMID: 34998618.
Tsoi, S. Y., Oncul M., Svahn E., Robertson, M., Bogdanowicz, Z., McClure, C.M., Surmeli, G. Telencephalic outputs from the medial entorhinal cortex are copied directly to the hippocampus. eLife, (2022) doi:10.1101/2021.03.10.434566.

In press

Anstey, N., Kumar, V., Tiwari, S., Watson, T. C., Toft, A. K. H., Dando, O. R., Inkpen, F. H., Baxter, P. S., Kozic, Z., Jackson, A. D., He, X., Nawaz, M. S., Kayenaat, A., Bhattacharya, A., Wyllie, D. J. A., Chattarji, S., Wood, E. R., Hardt, O., and Kind, P. C. (2020) Imbalance of flight-freeze responses and their cellular correlates in the Nlgn3-/y rat model of autism spectrum disorder and intellectual disability. bioRxiv 2020.08.27.267880.
Asiminas A, Jackson AD, Louros S, Till SM, Spano T, Dando O, Bear MF, Chattarji S, Hardingham GE, Osterweil EK, Wyllie DJA, Wood ER, and Kind PC. Sustained correction of associative learning deficits following brief, early treatment in a rat model of Fragile X Syndrome. Science Translational Medicine. May 29;11(494). pii: eaao0498. PMID: 31142675.
Asiminas A, Booker SA, Dando OR, Kozic Z, Arkell D, Inkpen FH, Sumera A, Akyel I, Kind PC*, Wood ER* (2021). Experience-dependent changes in hippocampal spatial activity and hippocampal circuit function are disrupted in a rat model of Fragile X Syndrome. bioRxiv preprint doi: https://doi.org/10.1101/2021.09.17.460768. Manuscript under review at Molecular Autism.
Bengani M, Grozeva D, Moyon L, Bhatia S, Louros S, Hope J, Prendergast JG, Naville M, Spasic-Boskovic O, van Heyningen V, Abbott CM, Osterweil E, Raymond L, Roest Crollius H, and FitzPatrick DR. Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. Plos One. In press.
Bonnycastle K., Kind P. and Cousin M.A. FMRP sustains presynaptic function via control of activity-dependent bulk endocytosis. Bioarchiv 2021; https://doi.org/10.1101/2020.09.10.291062
Bracha S, Hassi K, Ross PD, Cobb S, Sheiner L, Rechavi O. Engineering Brain Parasites for Intracellular Delivery of Therapeutic Proteins. doi: https://doi.org/10.1101/481192. Biorxiv.
Chan WK, Fetit R, Griffiths R, Marshall H, Mason JO, Price DJ. Using organoids to study human brain development and evolution. Dev Neurobiol. 2021 Mar 26. doi: 10.1002/dneu.22819. Epub ahead of print
Chan WK, Price DJ, Pratt T. (2017) Fgf8 morphogen gradients are differentially regulated by heparan sulphotransferases Hs2st and Hs6st1 in the developing brain. Biol Open. Nov 20. [Epub ahead of print]
Chéreau R, Williams LE, Bawa T, Holtmaat A. Circuit mechanisms for cortical plasticity and learning. Semin Cell Dev Biol. 2021 Jul 28: S1084-9521(21)00199-3. doi:10.1016/j.semcdb.2021.07.012. Epub ahead of print. PMID: 34332885.
Currie SP, Ammer J, Premchand B, Dacre J, Wu Y, Eleftheriou C, Colligan M, Clarke T, Mitchell L, Faisal A, Hennig MH, Duguid I (2021) Spatiotemporal organization of movement-invariant and movement-specific signaling in the output layer of motor cortex. bioRxiv doi: https://doi.org/10.1101/2020.10.27.357087.
Degro CE, Bolduan F, Vida I, Booker SA. Interneuron Diversity in the Rat Dentate Gyrus: An Unbiased In Vitro Classification (in revision)
Garcia, N*., Mitchell-Heggs, R*., Saxena, K*., Gabbert, C., Taylor, G., Mastroberadino, G., Spooner, P.A., Gobbo, F., Chattarji, S., Kind, P.C., et al. (2022). Whose behavior? Ca2+ imaging in medial prefrontal cortex during social dominance interactions in a Tube-Test. Proc Natl Acad Sci. (in press).
Gerlei K, Passlack J, Hawes I, Vandrey B, Stevens H, Papastathopoulos I and Nolan MF (2020). Grid cells are modulated by local head direction. Nature Communications, 11, 4228. PMCID: PMC7445272. Preprint (2019): doi: https://doi.org/10.1101/681312.
Gospodinova KO, Olsen D, Kaas M, Anderson SM, Philips J, Walker RM, Bermingham ML, Pandya D, Crichton JH, Spires-Jones TL, Adams I, Abbott CM, Porteous DJ, Glerup S, Evans KL. Loss of SORCS2 is associated with increased levels of DNA double-strand breaks in neurons (in press)
Jiwaji Z, Tiwari SS, Avilés-Reyes RX, Hooley M, Hampton D, Torvell M, Johnson DA, McQueen J, Paul Baxter P, Sabari-Sankar K, Qiu J, He X, Fowler J, Febery J, Gregory J, Rose J, Tulloch J, Story D, McDade K, Smith AM, Greer P, Kind PC, Matthews PM, Smith C, Dando O, Spires-Jones TL, Johnson JA, Chandran S and Hardingham GE (2021). Reactive astrocytes acquire neuroprotective signatures in response to Tau and Aß pathology. Nature Communications (in press).
Katsanevaki D, Till SM, Buller-Peralta I, Watson TC, Nawaz MS, Arkell D, Tiwari S, Kapgal V, Biswal S, Smith JAB, Anstey NJ, Mizen L, Perentos N, Jones MW, Cousin MA, Chattarji S, Gonzalez-Sulser A*, Hardt O*, Wood ER*, Kind PC* (2020) Heterozygous deletion of SYNGAP enzymatic domains in rats causes selective learning, social and seizure phenotypes. BioRxiv preprint doi: https://doi.org/10.1101/2020.10.14.339192
*Kenny A, Wright D, Stanfield AC. EEG as a translational biomarker and outcome measure in fragile X syndrome. Translational Psychiatry. In Press
Kozic Z, Booker S, Dando O, Hardingham G, Kind P. LAB-AID (Laboratory Automated Interrogation of Data): an interactive web application for visualization of multi-level data from biological experiments. bioRxiv. 2021 Jan 1:763318.
Lee FCY, Chakrabarti AM, Hänel H, Monzón-Casanova E, Hallegger M, Militti C, Capraro F, Sadée C, Toolan-Kerr P, Wilkins O, Turner M, König J, Sibley CR, Ule J. An improved iCLIP protocol. (2021). bioRxiv 2021.08.27.457890; doi: https://doi.org/10.1101/2021.08.27.457890 (pre print)
Louros SR*, Seo SS*, Verity NC, Gonzales-Lozano MA, Muscas M, Willis JC, Li KW and Osterweil EK. Unbalanced proteostasis contributes to pathology in Fragile X Syndrome.In revision, Neuron.
Marwick KFM, Kasper B Hansen KH, Skehel P, Hardingham GE, and Wyllie DJA. Functional assessment of triheteromeric NMDA receptors containing a human variant associated with epilepsy. In revision at J. Physiol Mar;597(6):1691-1704.
Persson BM, Ambrozova V, Duncan S, Wood ER, O’Connor AR, Ainge JA (in press, 2022) Lateral entorhinal cortex lesions impair odour-context associative memory in male rats. J Neuroscience Research.
Rifai OM, Longden J, O'Shaughnessy J, Sewell MDE, McDade K, Daniels MJD, Abrahams S, Chandran S, McColl B, Sibley CR, Gregory JM. Random forest modelling of neuropathological features identifies microglial activation as an accurate pathological classifier of C9orf72-related amyotrophic lateral sclerosis. (2021) bioRxiv 2021.12.10.471808; doi: https://doi.org/10.1101/2021.12.10.471808 (pre-print)
Seo SS*, Louros SR*, Anstey N, Gonzales-Lozano MA, Harper CB, Verity NC, Dando O, Thomson SR, Darnell JC, Kind PC, Wyllie DJA, Li KW, and Osterweil EK Excess ribogenesis unbalances translation in Fragile X Syndrome.. In revision, Nature Communications.
Shukla, A and Chattarji, S (2021) Stressed rats fail to exhibit avoidance reactions to innately aversive social calls. Neuropsychopharmacology DOI: 10.1038/s41386-021-01230-z (in press)
Taha D, Clarke B, Hall C, Tyzack G, Ziff O, Greensmith L, Kalmar B, Ahmed M, Alam A, Thelin EP, Garcia N, Helmy A, Sibley CR*, Patani, R*. Diversity of early astrocyte reactive profiles in familial amyotrophic lateral sclerosis. Brain. (2021). in press. * = co-corresponding
Tennant SA, Clark H, Hawes I, Tam WK, Hua J, Yang W, Gerlei KZ, Wood ER, Nolan MF (2021). Readout of a spatial memory by interruption of ramping activity in the retrohippocampal cortex. bioRxiv preprint doi: https://doi.org/10.1101/2021.03.15.435518
Thomson SR*, Seo SS*, Barnes SA, Louros SR, Muscas M, Dando O, Hardingham GE, Wyllie DJA, Kind PC, and Osterweil EK. Cell type-specific translation profiling reveals a novel strategy for treating fragile X syndrome. Neuron. Aug 2;95(3):550-563.
Till S, Hickson R, Kind P (2022). Cross-species considerations in models of neurodevelopmental disorders. 5 Jan 2022. In: Trends in Neuroscience.
Tse, D., Norton, A.C., Spooner, P.A., and Morris, R.G.M. (2022). A behavioural task modelling ‘everyday memory’ in the event arena that fosters allocentric representation. Journal of Visualised Experiments. (in press).
Velichkova, A.N., Coleman, S.E., Torsney, C. (In Press). Post-operative pain facilitates rat C-fibre activity-dependent slowing and induces thermal hypersensitivity in a sex-dependent manner. British Journal of Anaesthesia
Yang Y, Booker SA, Clegg JM, Urzainqui IQ, Sumera A, Kozic Z, Dando O, Lorenzo SM, Herault Y, Kind PC, Price DJ. Identifying developing interneurons as a potential target for multiple genetic autism risk factors in human and rodent forebrain. bioRxiv. 2021 Jan 1.
Zlatic SA, Duong D, Gadalla KKE, Murage B, Ping L, Shah R, Khwaja O, Swanson LC, Sahin M, Rayaprolu S, Kumar P, Rangaraju S, Bird A, Tarquinio D, Cobb S, Faundez V. Convergent Cerebrospinal Fluid Proteomes and Metabolic Ontologies in Humans and Animal Models of Rett Syndrome. https://doi.org/10.1101/2021.11.30.470580. Biorxiv.

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