Publications

This list of papers includes the primary research outcome produced by SIDB researchers. These peer-reviewed papers allow the dissemination of the work of SIDB members and collaborators.

 

Submitted/In Press

Gerlei K, Passlack J, Stevens H, Papastathopoulos I, Nolan M. Grid cells implement a location-dependent directional code. BioRxiv. doi: https://doi.org/10.1101/681312.

Patoll H, Garden D, Papastathopoulos I, Surmeli G, Nolan M. Inter-animal variability, experience-dependence and continuous dorsoventral tuning of integrative properties of stellate cells in the medial entorhinal cortex. BioRxiv. doi: https://doi.org/10.1101/678565.

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. Under review. eLife.

Van Driesche SJ, Sawicka K, Zhang C, Hung SKY, Park CY, Fak JJ, Yang C, Darnell RB, Darnell JC. FMRP binding to a ranked subset of long genes is revealed by coupled CLIP and TRAP in specific neuronal cell types. Submitted. BioRxiv.

Vandrey B, Garden DLF, Ambrozova V, McClure C, Nolan MF, Ainge JA. Fan cells in layer 2 of lateral entorhinal cortex are critical for episodic-like memory. BioRxiv. doi: https://doi.org/10.1101/543777.

2019

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.

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.

McKechanie AG, Barnicoat A, Trender-Gerhard I, Allison M, Stanfield AC.  Fragile X-associated conditions: implications for the whole family.  Br J General Practice.  2019; 69 (686): 460-461.

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.

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.

Abbott CM. Precision medicine in epilepsy-the way forward? ACS Chem. Neurosci. 2019;10 (4): 2080–2081.

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.

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.

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.

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.

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

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.
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.

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.

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.

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.

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].

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.

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.

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.

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

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.

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.

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)

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.

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.

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. 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 2019; 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.

Wright CF, Prigmore E, Rajan D, Handsaker J, McRae J, Kaplanis J, Fitzgerald TW, FitzPatrick DR, Firth HV, Hurles ME. Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data. Nat Commun. 2019 Jul 5;10(1):2985. doi: 10.1038/s41467-019-11059-2.

2018
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.
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.

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.

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. 

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.

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.
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.

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.

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.

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.

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.

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.

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.

Kopanitsua 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.

Kopanitsa MV, Gou G, Afinowi NO, Bayés À, Grant SGN, Komiyama NH. Chronic treatment with a MEK inhibitor reverses enhanced excitatory field potentials in Syngap1+/– mice. Pharmacol. Rep. 2018; 70, 777-783.

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.

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.

McKay S, Ryan TJ, McQueen J, Indersmitten T, Marwick KFM, Hasel P, Kopanitsa MV, Baxter PS, Martel M-A, 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.  PMID: 30355491

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.

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.

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.

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.

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.

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.

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.

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.

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

Selvaraj BT, Livesey MR, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB, Perkins EM, Dando O, Lillico SG, Lee YB, Mishimura AL, Poreci U, Thankamony S, Pray M, Vasistha NA, Magani D, Borooah S, Burr K, Story D, McCampbell A, Shaw CE, Kind PC, Aitman TJ, Whitelaw CBA, Wilmut I, Smith C, Miles GB, Hardingham GR, Wyllie DJA, Chandran S. C9ORF2 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity. Nat Comms. (2018) 24;9:347.

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.

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.

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.

Wyllie DJA Modelling the details: integrating structure with function.  J Physiol 2018; 596, 3833-3834. PMID: 30024035

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.

2017
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.

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.

Bird A. Genetic determinants of the epigenome in development and cancer. Swiss Med Wkly. 2017;147: w14523.

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 & Wyllie DJA (2017).  Parvalbumin interneurons in the dorsal horn: it's not all about GABA. J Physiol 2017; 595, 7019-7020. PMID: 29068060

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]

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.
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.

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.

Frank RA, Grant SG. Supramolecular organization of NMDA receptors and the postsynaptic density. Curr. Opin. Neurobiol. 2017; 45, 139-147.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.