Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie +27 more·2012·Cell

Cited by (577)

Items 201–300 of 577

  1. AUTS2 Regulation of Synapses for Proper Synaptic Inputs and Social Communication
    Kei Hori, Kunihiko Yamashiro, Taku Nagai, Wei Shan, Saki F. Egusa, Kazumi Shimaoka, Hiroshi Kuniishi, Masayuki Sekiguchi, Yasuhiro Go, Shoji Tatsumoto et al. · 2020 · iScience
  2. Heat Shock Alters the Expression of Schizophrenia and Autism Candidate Genes in an Induced Pluripotent Stem Cell Model of the Human Telencephalon
    Mingyan Lin, Dejian Zhao, Anastasia Hrabovsky, Erika Pedrosa, Deyou Zheng, Herbert M. Lachman · 2014 · PLoS ONE
  3. Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays
    Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald, Nicholas J. Neill, Martin G. Bialer, Christine Moore, Patricia G. Wheeler, Stephanie E Wallace, Mark Hannibal, Michael F. Murray et al. · 2013 · Human Mutation
  4. Neurodevelopment in Schizophrenia: The Role of the Wnt Pathways
    Isabella Panaccione, Flavia Napoletano, Alberto Maria Forte, Georgios Demetrios Kotzalidis, Antonio DEL CASALE, Chiara Rapinesi, Chiara Brugnoli, Daniele Serata, Federica Caccia, Ilaria Cuomo et al. · 2013 · Current Neuropharmacology
  5. Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders
    Ileena Mitra, Alinoë Lavillaureix, Erika Yeh, Michela Traglia, Kathryn M. Tsang, Carrie E. Bearden, Katherine A. Rauen, Lauren A. Weiss · 2017 · PLoS Genetics
  6. Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications
    Louisa Kalsner, Jennifer Twachtman‐Bassett, Kristin Tokarski, Christine M. Stanley, Thyde M. Dumont-Mathieu, Justin L. Cotney, Stormy J. Chamberlain · 2017 · Molecular Genetics & Genomic Medicine
  7. Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes
    Christina Halgren, Nete Munk Nielsen, Lusine Nazaryan‐Petersen, Asli Silahtaroglu, Ryan L. Collins, Chelsea Lowther, Susanne Kjærgaard, Morten Frisch, Maria Kirchhoff, Karen Brøndum‐Nielsen et al. · 2018 · The American Journal of Human Genetics
  8. Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia
    Ellis, S E, Panitch, R, West, A B, Arking, D E · 2016 · Translational Psychiatry
  9. Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
    Ece Dilber Gamsiz Uzun, Laura N. Sciarra, Abbie M. Maguire, Matthew F. Pescosolido, Laura I. van Dyck, Eric M. Morrow · 2015 · Neurotherapeutics
  10. Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature
    Zehra Ordulu, Kristen E. Wong, Benjamin Currall, Andrew R. Ivanov, Shahrin Pereira, Sara Althari, James F. Gusella, Michael E. Talkowski, Cynthia Casson Morton · 2014 · The American Journal of Human Genetics
  11. A de novo frameshift mutation in chromodomain helicase DNA‐binding domain 8 (CHD8): A case report and literature review
    Nancy D. Merner, Baudouin Forgeot d’Arc, Scott C. Bell, Gilles Maussion, Huashan Peng, Julie Gauthier, Liam Crapper, Fadi F. Hamdan, Jacques L. Michaud, Laurent Mottron et al. · 2016 · American Journal of Medical Genetics Part A
  12. An autism-associated mutation in GluN2B prevents NMDA receptor trafficking and interferes with dendrite growth
    Michael P. Sceniak, Karlie N. Fedder-Semmes, Qian Wang, Sammy Droubi, Katie Babcock, Sagar Patwardhan, Jazmin Wright-Zornes, Lucynda Pham, Shasta L. Sabo · 2019 · Journal of Cell Science
  13. Architects of the genome: CHD dysfunction in cancer, developmental disorders and neurological syndromes
    Wangzhi Li, Alea A. Mills · 2014 · Epigenomics
  14. Mouse population genetics phenocopies heterogeneity of human Chd8 haploinsufficiency
    Tabbaa, Manal, Knoll, Allison, Levitt, Pat · 2023 · Neuron
  15. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: A review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders
    Ina E. Amarillo, Wenhui Laura Li, Xinmin Li, Eric J. N. Vilain, Sibel Kantarci · 2014 · American Journal of Medical Genetics Part A
  16. Abnormal behaviours relevant to neurodevelopmental disorders in Kirrel3-knockout mice
    Tomoko Hisaoka, Tadasuke Komori, Toshio Kitamura, Yoshihiro Morikawa · 2018 · Scientific Reports
  17. Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders
    Harrison Brand, Vamsee Pillalamarri, Ryan L. Collins, Stacey Eggert, Colm T. O'Dushlaine, Ellen B. Braaten, Matthew R. Stone, Kimberly Chambert, Nathan Daniel Doty, Carrie Hanscom et al. · 2014 · The American Journal of Human Genetics
  18. ZNF804A Transcriptional Networks in Differentiating Neurons Derived from Induced Pluripotent Stem Cells of Human Origin
    Jian Chen, Mingyan Lin, Anastasia Hrabovsky, E. Pedrosa, Jason Dean, S. Jain, De-You Zheng, H. Lachman · 2015 · PLoS ONE
  19. A rare WNT1 missense variant overrepresented in ASD leads to increased Wnt signal pathway activation
    P-M Martin, Xiaoyong Yang, Nick C. Robin, Ernest T. Lam, Jeremy S. Rabinowitz, Carolyn A. Erdman, Jeffrey F. Quinn, Lauren A. Weiss, Steven P. Hamilton, P-Y Kwok et al. · 2013 · Translational Psychiatry
  20. Specific Roles of NMDA Receptor Subunits in Mental Disorders
    Hideko Yamamoto, Yoko Hagino, Shinya Kasai, Kazutaka Ikeda · 2015 · Current Molecular Medicine
  21. PPARγ agonists: potential treatment for autism spectrum disorder by inhibiting the canonical WNT/β-catenin pathway
    Alexandre Vallée, Jean-Noël Vallée, Yves Lecarpentier · 2018 · Molecular Psychiatry
  22. Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs
    Xiaoli Chen, Yiping Shen, Feng Zhang, Colby Chiang, Vamsee Pillalamarri, Ian Blumenthal, Michael E. Talkowski, Bai-Lin Wu, James F. Gusella · 2013 · The American Journal of Human Genetics
  23. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization
    Svetlana A. Yatsenko, Patricia M. Hixson, Erin K. Roney, Daryl A. Scott, Christian Patrick Schaaf, Yu‐Tze Ng, Robbin Palmer, Richard B. Fisher, Ankita Patel, Sau Wai Cheung et al. · 2012 · Human Genetics
  24. The Intellectual Disability and Schizophrenia Associated Transcription Factor TCF4 Is Regulated by Neuronal Activity and Protein Kinase A
    Mari Sepp, Hanna Vihma, Kaja Nurm, Mari Urb, Stephanie C. Page, Kaisa Roots, Anu Hark, Brady J. Maher, Priit Pruunsild, Tõnis Timmusk · 2017 · Journal of Neuroscience
  25. Association Study Identifying a New Susceptibility Gene (AUTS2) for Schizophrenia
    Bao Zhang, Yuehong Xu, Shuguang Wei, Hongbo Zhang, Dongke Fu, Zufei Feng, Fanglin Guan, Yongsheng Zhu, Shengbin Li · 2014 · International Journal of Molecular Sciences
  26. Satb2 Ablation Impairs Hippocampus-Based Long-Term Spatial Memory and Short-Term Working Memory and Immediate Early Genes (IEGs)-Mediated Hippocampal Synaptic Plasticity
    Ying Li, Qiang-Long You, Sheng-Rong Zhang, Weiyuan Huang, Wen-Jun Zou, Wei Jie, Shu-Ji Li, Ji-Hong Liu, Chuang-Ye Lv, Jin Cong et al. · 2017 · Molecular Neurobiology
  27. Genes regulated by SATB2 during neurodevelopment contribute to schizophrenia and educational attainment
    Laura Whitton, Galina Apostolova, Dietmar Rieder, Georg Dechant, Stephen Rea, Gary J Donohoe, Derek W. Morris · 2018 · PLoS Genetics
  28. Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development
    Shaun Hurley, Conor Mohan, Philipp Suetterlin, Robert A. Ellingford, Kimberley L. H. Riegman, Jacob Ellegood, Angela Caruso, Caterina Michetti, Olivier Brock, Romy Evans et al. · 2021 · Molecular Autism
  29. Distortion of the normal function of synaptic cell adhesion molecules by genetic variants as a risk for autism spectrum disorders
    Deeba Noreen Baig, Toru Yanagawa, Katsuhiko Tabuchi · 2016 · Brain Research Bulletin
  30. Building a schizophrenia genetic network: transcription factor 4 regulates genes involved in neuronal development and schizophrenia risk
    Han-Zhang Xia, Fay M. Jahr, Nak-Kyeong Kim, Linying Xie, Andrey A. Shabalin, Julien Bryois, Douglas H. Sweet, Mohamad M. Kronfol, Preetha Palasuberniam, MaryPeace McRae et al. · 2018 · Human Molecular Genetics
  31. Mutation update for the SATB2 gene
    Yuri A. Zárate, Katherine A. Bosanko, Aislling R. Caffrey, Jonathan Adam Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry‐Kravis, Paul R. Mark, Melanie A. Manning, Vikas Bhambhani et al. · 2019 · Human Mutation
  32. The influence of circadian rhythms and aerobic glycolysis in autism spectrum disorder
    Alexandre Vallée, Yves Lecarpentier, Rémy Guillevin, Jean-Noël Vallée · 2020 · Translational Psychiatry
  33. Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies
    Vasiliki Karalis, Kathleen E. Donovan, Mustafa Şahin · 2022 · Journal of Developmental Biology
  34. De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review
    Alexandra Frances Jolley, Mark A Corbett, Lesley McGregor, Wendy Waters, Susan Brown, Jillian K. Nicholl, Sui Yu · 2013 · American Journal of Medical Genetics Part A
  35. An eMERGE Clinical Center at Partners Personalized Medicine
    Jordan W. Smoller, Elizabeth W. Karlson, Robert C. Green, Sekar Kathiresan, Daniel G. MacArthur, Michael E. Talkowski, Shawn N. Murphy, Scott T. Weiss · 2016 · Journal of Personalized Medicine
  36. Stem Cell Proliferation Is Kept in Check by the Chromatin Regulators Kismet/CHD7/CHD8 and Trr/MLL3/4
    Louis Gervais, Marius van den Beek, Manon Josserand, Jérémy Sallé, Marine Stefanutti, Carolina N. Perdigoto, Patricia Skorski, Khallil Mazouni, Owen J. Marshall, Andrea H. Brand et al. · 2019 · Developmental Cell
  37. Chromatin Remodeler CHD8 in Autism and Brain Development
    Anke Hoffmann, Dietmar Spengler · 2021 · Journal of Clinical Medicine
  38. Genetic risk factors in two Utah pedigrees at high risk for suicide
    Hilary H Coon, Todd M. Darlington, Richard Pimentel, Ken Robert Smith, Chad Daniel Huff, Hao Hu, Leslie Jerominski, Joanna L. Hansen, M Klein, William Brandon Callor et al. · 2013 · Translational Psychiatry
  39. Intragenic duplication—A novel causative mechanism for SATB2‐associated syndrome
    Agne Liedén, Malin Kvarnung, Daniel Nilsson, Ellika Sahlin, Elisabeth Syk Lundberg · 2014 · American Journal of Medical Genetics Part A
  40. CTNND2—a candidate gene for reading problems and mild intellectual disability
    Wolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, Britt‐Marie Anderlid, Fahimeh Darki, Hans Matsson, Isabel Tapia‐Páez, Torkel Klingberg, Lena Samuelsson, Valtteri Wirta et al. · 2014 · Journal of Medical Genetics
  41. Euchromatin histone methyltransferase 1 regulates cortical neuronal network development
    Marijn Bart Martens, Monica Frega, Jessica Classen, Lisa Epping, Elske Bijvank, Marco Benevento, Hans van Bokhoven, Paul H. E. Tiesinga, Dirk Schubert, Nael Nadif Kasri · 2016 · Scientific Reports
  42. The Sequence-Specific Transcription Factor c-Jun Targets Cockayne Syndrome Protein B to Regulate Transcription and Chromatin Structure
    Robert J. Lake, Erica L. Boetefuer, Pei-Fang Tsai, Jieun Jeong, Inchan Choi, Kyoung‐Jae Won, Hua-Ying Fan · 2014 · PLoS Genetics
  43. The Role of Zinc and NMDA Receptors in Autism Spectrum Disorders
    Kevin C. Lee, Zoe Mills, Pang Ying Cheung, Juliette E. Cheyne, Johanna M. Montgomery · 2022 · Pharmaceuticals
  44. PRMT6 Epigenetically Drives Metabolic Switch from Fatty Acid Oxidation toward Glycolysis and Promotes Osteoclast Differentiation During Osteoporosis
    Wenxiang Chu, Weilin Peng, Yingying Lu, Yishan Liu, Qisheng Li, Haibin Wang, Liang Wang, Bangke Zhang, Zhixiao Liu, Lin Han et al. · 2024 · Advanced Science
  45. De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review
    Yi Liu, Dongmei Zhao, Rui Dong, Xiaomeng Yang, Yanqing Zhang, Kristiina Tammimies, Mohammed J. Uddin, Stephen W. Scherer, Zhongtao Gai · 2015 · American Journal of Medical Genetics Part A
  46. The best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease
    Aislinn Joanmarie Williams, Hisashi Umemori · 2014 · Frontiers in Synaptic Neuroscience
  47. A molecular model for neurodevelopmental disorders
    Carolina Oliveira Gigek, Elizabeth Chen, Vanessa Ota, Gilles Maussion, Hong Peng, Kathryn Vaillancourt, Alpha Diallo, Juan Pablo López, Liam Crapper, Cristina Vasuta et al. · 2015 · Translational Psychiatry
  48. Neural and behavioral epigenetics; what it is, and what is hype
    Anthony R Isles · 2014 · Genes Brain & Behavior
  49. Neurogenomics of speech and language disorders: the road ahead
    Pelagia Deriziotis, Simon E. Fisher · 2013 · Genome biology
  50. Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease
    Wigard P. Kloosterman, Ron Hochstenbach · 2014 · Molecular Cytogenetics
  51. Transcriptional Dysregulation of Neocortical Circuit Assembly in ASD
    Kenneth Y. Kwan · 2013 · International review of neurobiology
  52. Identifying Genes Responsible for Intellectual Disability in Consanguineous Families
    Zafar Iqbal, Hans van Bokhoven · 2014 · Human Heredity
  53. Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome
    Gea Beunders, Sonja A. de Munnik, Nathalie Van der Aa, Berten Ceulemans, Els Voorhoeve, Alexander J. A. Groffen, Willy M. Nillesen, E.J. Meijers-Heijboer, R. Frank Kooy, Helger G. Yntema et al. · 2014 · European Journal of Human Genetics
  54. Methyl‐CpG‐Binding Protein (MBD) Family: Epigenomic Read‐Outs Functions and Roles in Tumorigenesis and Psychiatric Diseases
    Carolina Oliveira Gigek, Elizabeth Chen, Marı́lia de Arruda Cardoso Smith · 2015 · Journal of Cellular Biochemistry
  55. Genetic modulation of working memory deficits by ankyrin 3 gene in schizophrenia
    Chen Zhang, Jun Cai, Jiangtao Zhang, Zezhi Li, Zhongwei Guo, Xu Zhang, Weihong Lu, Yi Zhang, Aihua Yuan, Shunying Yu et al. · 2013 · Progress in Neuro-Psychopharmacology and Biological Psychiatry
  56. Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly
    Paolo Prontera, Valentina Ottaviani, Daniela Toccaceli, Daniela Rogaia, Carmen Ardisia, Rita Romani, Gabriela Stangoni, Angiolo Pierini, Emilio Donti · 2014 · American Journal of Medical Genetics Part A
  57. WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4
    Hennig, Krista M., Fass, Daniel M., Zhao, Wen-Ning, Sheridan, Steven D., Fu, Ting, Erdin, Serkan, Stortchevoi, Alexei, Lucente, Diane, Cody, Jannine D., Sweetser, David et al. · 2017 · Complex Psychiatry
  58. Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life
    Jessica A. Jiménez, Travis Ptacek, Alex H. Tuttle, Ralf S. Schmid, Sheryl S. Moy, Jeremy M. Simon, Mark J. Zylka · 2020 · Molecular Autism
  59. Publicly Available hiPSC Lines with Extreme Polygenic Risk Scores for Modeling Schizophrenia
    Kristina Dobrindt, Hanwen Zhang, Debamitra Das, Sara Abdollahi, Tim Prorok, Sulagna Dia Ghosh, Sarah J. Weintraub, Giulio Genovese, Samuel K. Powell, Anina N. Lund et al. · 2020 · Complex Psychiatry
  60. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
    Alexander J.M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M.H.F. Bongers, Arjan Bouman, Laura de Graaff-Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. de Geus et al. · 2022 · Translational Psychiatry
  61. Long genes linked to autism spectrum disorders harbor broad enhancer-like chromatin domains
    Ying-Tao Zhao, Deborah Y. Kwon, Brian S. Johnson, Maria Fasolino, Janine M. Lamonica, Yoon Jung Kim, Boxuan Simen Zhao, Chuan He, Golnaz Vahedi, Tae Hoon Kim et al. · 2018 · Genome Research
  62. Rethinking mental disorders: The role of learning and brain plasticity
    Sarah E. Morris, Judith M. Rumsey, Bruce N. Cuthbert · 2014 · Restorative Neurology and Neuroscience
  63. Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects
    Shabeesh Balan, Yoshimi Iwayama, Motoko Maekawa, Tomoko Toyota, Tetsuo Ohnishi, Manabu Toyoshima, Chie Shimamoto, Kayoko Esaki, Kazuo Yamada, Yasuhide Iwata et al. · 2014 · Molecular Autism
  64. The RNA binding protein HuR determines the differential translation of autism-associated FoxP subfamily members in the developing neocortex
    Tatiana Popovitchenko, K. Thompson, Barbara Viljetić, X. Jiao, D. L. Kontonyiannis, Megerditch Kiledjian, Ronald P. Hart, Mladen Roko Rašin · 2016 · Scientific Reports
  65. Atypical Auditory Brainstem Response and Protein Expression Aberrations Related to ASD and Hearing Loss in the Adnp Haploinsufficient Mouse Brain
    Gal Hacohen-Kleiman, Ofer Yizhar Barnea, Olga Touloumi, Roza Lagoudaki, Karen B. Avraham, Nikolaos Grigoriadis, Illana Gozes · 2019 · Neurochemical Research
  66. Histone H2A Monoubiquitination in Neurodevelopmental Disorders
    Anshika Srivastava, BT McGrath, Stephanie L. Bielas · 2017 · Trends in Genetics
  67. Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction
    Xi Shi, Congyi Lu, Alba Corman, Alexandria Nikish, Yang Zhou, Randy J. Platt, Ivan H. Iossifov, Feng Zhang, Jen Q. Pan, Neville E. Sanjana · 2023 · The American Journal of Human Genetics
  68. Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
    Sarah Vergult, Ellen van Binsbergen, Tom Sante, Silke Nowak, Olivier M. Vanakker, Kathleen Claes, Bruce Graham Poppe, Nathalie Van der Aa, Markus J. van Roosmalen, Karen J. Duran et al. · 2013 · European Journal of Human Genetics
  69. Ankyrin-3 as a molecular marker of early-life stress and vulnerability to psychiatric disorders
    Alessia Luoni, Renaud Massart, Vanessa Nieratschker, Zsófia Nemoda, Giuseppe Blasi, Maria Gilles, Stephanie H. Witt, Matthew J Suderman, Stephen J. Suomi, A Porcelli et al. · 2016 · Translational Psychiatry
  70. Discovering genes essential to the hypothalamic regulation of human reproduction using a human disease model: adjusting to life in the “-omics” era
    Stamou, M. I., Cox, K. H., Crowley, William F. · 2015 · Endocrine Reviews
  71. Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes
    Malene Bøgehus Rasmussen, Jakob Vennike Nielsen, Charles Marques Lourenço, Joana Barbosa Melo, Christina Halgren, C.V.L. Geraldi, Wilson Marques, Guilherme Riccioppo Rodrigues, Mads Thomassen, Mads Bak et al. · 2014 · Journal of Medical Genetics
  72. CHD8 intragenic deletion associated with autism spectrum disorder
    Elliot S. Stolerman, Brooke T. Smith, Alka Chaubey, Julie R. Jones · 2016 · European Journal of Medical Genetics
  73. Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance
    István Bock, Krisztina Németh, Klára Pentelényi, Péter Balicza, Anna Balázs, Mária Judit Molnár, Viktor Román, József Nagy, György I. Lévay, Julianna Kobolák et al. · 2016 · Gene
  74. PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids
    Alexandre Jourdon, Soraya Scuderi, Davide Capauto, Alexej S. Abyzov, Flora Maria Vaccarino · 2020 · Neuropsychopharmacology
  75. Mice lacking the synaptic adhesion molecule Neph2/Kirrel3 display moderate hyperactivity and defective novel object preference
    Su‐Yeon Choi, Kihoon Han, Tyler Cutforth, Woosuk Chung, Haram Park, Dongsoo Lee, Ryunhee Kim, Myeong-Heui Kim, Yeeun Choi, Kang Shen et al. · 2015 · Frontiers in Cellular Neuroscience
  76. Zinc finger protein 804A (ZNF804A) and verbal deficits in individuals with autism
    Ayyappan Anitha, Ismail Thanseem, Kazuhiko Nakamura, Mahesh Mundalil Vasu, Kazuo Yamada, Takatoshi Ueki, Yoshimi Iwayama, Tomoko Toyota, Kenji J. Tsuchiya, Yasuhide Iwata et al. · 2014 · Journal of Psychiatry and Neuroscience
  77. Copy‐Number Variants Detection by Low‐Pass Whole‐Genome Sequencing
    Zirui Dong, Weiwei Xie, Haixiao Chen, Jinjin Xu, Huilin Wang, Yun Li, Jun Wang, Fang Chen, Kwong Wai Choy, Hui Jiang · 2017 · Current Protocols in Human Genetics
  78. Investigation of genes important in neurodevelopment disorders in adult human brain
    Gilles Maussion, Alpha Diallo, Carolina Oliveira Gigek, Elizabeth Chen, Liam Crapper, Jean‐François Théroux, Gary Gang Chen, Cristina Vasuta, Carl Ernst · 2015 · Human Genetics
  79. A Systematic Review of the Human Accelerated Regions in Schizophrenia and Related Disorders: Where the Evolutionary and Neurodevelopmental Hypotheses Converge
    Maria Guardiola-Ripoll, Mar Fatjó‐Vilas · 2023 · International Journal of Molecular Sciences
  80. Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism
    Li Yu, Yiming Wu, Bai-Lin Wu · 2015 · Science China Life Sciences
  81. A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing
    Scott Bell, Huashan Peng, Liam Crapper, Ilaria Kolobova, Gilles Maussion, Cristina Vasuta, Volodymyr Yerko, Tak Pan Wong, Carl Ernst · 2016 · Stem Cells Translational Medicine
  82. A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator
    Maria I. Stamou, Shi‐Yan Ng, Harrison Brand, Harold Wang, Lacey Plummer, Lyle G. Best, Steven Havlicek, Martin Lloyd Hibberd, Chiea Chuen Khor, James F. Gusella et al. · 2019 · The Journal of Clinical Endocrinology & Metabolism
  83. Transcribing the connectome: roles for transcription factors and chromatin regulators in activity-dependent synapse development
    Liangfu Chen, Allen S. Zhou, Anne E. West · 2017 · Journal of Neurophysiology
  84. Genetics of Autism Spectrum Disorders
    Rutter, Michael, Thapar, Anita · 2014 · Handbook of Autism and Pervasive Developmental Disorders, Fourth Edition
  85. Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome
    Kharbanda, Mira, Kannike, Kaja, Lampe, Anne, Berg, Jonathan, Timmusk, Tõnis, Sepp, Mari · 2016 · European Journal of Medical Genetics
  86. Characterizing vulnerable brain areas and circuits in mouse models of autism: Towards understanding pathogenesis and new therapeutic approaches
    Kelvin K. Hui, Yuta Katayama, Keiichi I. Nakayama, Jun Nomura, Takeshi Sakurai · 2018 · Neuroscience & Biobehavioral Reviews
  87. 自閉症関連タンパク質CHD8はC/EBPβと協調して脂肪分化を制御する
    喜多, 泰之 · 2018 · Kyushu University Institutional Repository (QIR) (Kyushu University)
  88. Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound
    Webb, Sara Jane, Garrison, Michelle M., Bernier, Raphael, McClintic, Abbi M., King, Bryan H., Mourad, Pierre D. · 2017 · Autism Research
  89. Chromatin regulators, phenotypic robustness, and autism risk
    Suliman, Reut, Ben-David, Eyal, Shifman, Sagiv · 2014 · Frontiers in Genetics
  90. CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate
    Bang Li, Hui Zhao, Zhuchi Tu, Weili Yang, Rui Han, Lu Wang, Xiaopeng Luo, Mingtian Pan, Xiusheng Chen, Jiawei Zhang et al. · 2023 · Cell Discovery
  91. Examining Hippocampal Mossy Fiber Synapses by 3D Electron Microscopy in Wildtype and Kirrel3 Knockout Mice
    E. Anne Martin, Derek M. Woodruff, Randi L. Rawson, Megan E. Williams · 2017 · eNeuro
  92. Social Stimulus Causes Aberrant Activation of the Medial Prefrontal Cortex in a Mouse Model With Autism-Like Behaviors
    Antonella Pirone, Jonathan Alexander, Jenny B. Koenig, Denise R. Cook-Snyder, Medha Palnati, Robert J. Wickham, Lillian W Eden, Neha Shrestha, Leon G.J.E. Reijmers, Thomas Biederer et al. · 2018 · Frontiers in Synaptic Neuroscience
  93. Design of Large‐Insert Jumping Libraries for Structural Variant Detection Using Illumina Sequencing
    Carrie Hanscom, Michael E. Talkowski · 2014 · Current Protocols in Human Genetics
  94. Recent Advances in the Genetics of Vocal Learning
    Michael C. Condro, Stephanie A. White · 2014 · Comparative Cognition & Behavior Reviews
  95. Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants
    Matthew R. Taylor, E. Anne Martin, Brooke L. Sinnen, Rajdeep Trilokekar, Emmanuelle Ranza, Stylianos E. Antonarakis, Megan E. Williams · 2020 · Journal of Neuroscience
  96. The Role of Glutamate in Language and Language Disorders - Evidence from ERP and Pharmacologic Studies
    Wentao Li, Marta Kutas A, John A. Gray, Randi Jenssen Hagerman, John Olichney · 2020 · Neuroscience & Biobehavioral Reviews
  97. TCF4 gene polymorphism and cognitive performance in patients with first episode psychosis
    Ammar Albanna, Zia Choudhry, Philippe‐Olivier Harvey, Ferid Fathalli, Clifford Cassidy, Sarojini M. Sengupta, Srividya N. Iyer, Aldanie Rho, Martín Lepage, ASHOK K. MALLA et al. · 2013 · Schizophrenia Research
  98. Identification and Characterization of FAM124B as a Novel Component of a CHD7 and CHD8 Containing Complex
    Batsukh Tserendulam, Yvonne Schulz, Stephan Wolf, Tamara Rabe, Thomas Oellerich, Henning Urlaub, Inga‐Marie Schaefer, Silke Pauli · 2012 · PLoS ONE
  99. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding
    Patrick R. Blackburn, Alexander Tischer, Michael T. Zimmermann, Jennifer L. Kemppainen, Sujatha Sastry, Amy E. Knight Johnson, Margot A. Cousin, Nicole J. Boczek, Gavin R. Oliver, Vinod K. Misra et al. · 2017 · Journal of Biological Chemistry
  100. Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders
    Matthew F. Pescosolido, Unikora Yang, Mark F Sabbagh, Eric M. Morrow · 2012 · Dialogues in Clinical Neuroscience