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

Fast and accurate short read alignment with Burrows-Wheeler transform

Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607 · see citing works

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821 · see citing works

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684 · see citing works

The Wellcome Trust Case Control Consortium, U.K.

Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714 · see citing works

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research · doi:10.1101/gr.078212.108 · Cited by 2,638 · see citing works

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

Franke, A., McGovern, D. P. B., Barrett, J. C., Wang, K., Radford-Smith, G. L., Ahmad, T., Lees, C. W., Balschun, T., Lee, J., Roberts, R., et al. (2010) · Nature Genetics · doi:10.1038/ng.717 · Cited by 2,520 · see citing works

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

Stephens, P. J., Greenman, C. D., Fu, B., Yang, F., Bignell, G. R., Mudie, L. J., Pleasance, E. D., Lau, K. W., Beare, D., Stebbings, L. A., et al. (2011) · Cell · doi:10.1016/j.cell.2010.11.055 · Cited by 2,414 · see citing works

Detection of nonneutral substitution rates on mammalian phylogenies

Pollard, K. S., Hubisz, M. J., Rosenbloom, K. R., & Siepel, A. (2010) · Genome Research · doi:10.1101/gr.097857.109 · Cited by 2,353 · see citing works

Austism diagnostic observation schedule: A standardized observation of communicative and social behavior

Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L., & Schopler, E. (1989) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02211841 · Cited by 2,030 · see citing works

Genome-wide association study identifies five new schizophrenia loci

The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011) · Nature Genetics · doi:10.1038/ng.940 · Cited by 1,919 · see citing works

Structural Variation of Chromosomes in Autism Spectrum Disorder

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works

Rare chromosomal deletions and duplications increase risk of schizophrenia

The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475 · see citing works

A copy number variation morbidity map of developmental delay

Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351 · see citing works

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

Wellcome Trust Case Control Consortium, Ferreira, M. A. R., O'Donovan, M. C., Meng, Y. A., Jones, I. R., Ruderfer, D. M., Jones, L., Fan, J., Kirov, G., Perlis, R. H., et al. (2008) · Nature Genetics · doi:10.1038/ng.209 · Cited by 1,237 · see citing works

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2011) · Nature Genetics · doi:10.1038/ng.835 · Cited by 1,203 · see citing works

Identification of loci associated with schizophrenia by genome-wide association and follow-up

Molecular Genetics of Schizophrenia Collaboration, O'Donovan, M. C., Craddock, N., Norton, N., Williams, H., Peirce, T., Moskvina, V., Nikolov, I., Hamshere, M., Carroll, L., et al. (2008) · Nature Genetics · doi:10.1038/ng.201 · Cited by 1,070 · see citing works

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature · doi:10.1038/nature07999 · Cited by 989 · see citing works

A human phenome-interactome network of protein complexes implicated in genetic disorders

Lage, K., Karlberg, E., Størling, Z. M., Olason, P., Pedersen, A., Rigina, O., Hinsby, A., Tümer, Z., Pociot, F., Tommerup, N., et al. (2007) · Nature Biotechnology · doi:10.1038/nbt1295 · Cited by 973 · see citing works

SSAHA: A Fast Search Method for Large DNA Databases

Ning, Z., Cox, A. J., & Mullikin, J. C. (2001) · Genome Research · doi:10.1101/gr.194201 · Cited by 965 · see citing works

Is schizophrenia a neurodevelopmental disorder?

Murray, R. M., & Lewis, S. W. (1988) · BMJ · doi:10.1136/bmj.296.6614.63 · Cited by 911 · see citing works

Is schizophrenia a neurodevelopmental disorder?

Murray, R. M., & Lewis, S. W. (1987) · BMJ · doi:10.1136/bmj.295.6600.681 · Cited by 889 · see citing works

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

Kirov, G., Pocklington, A. J., Holmans, P., Ivanov, D., Ikeda, M., Ruderfer, D., Moran, J., Chambert, K., Toncheva, D., Georgieva, L., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.154 · Cited by 844 · cited 2× · see citing works

NALPs: a novel protein family involved in inflammation

Tschopp, J., Martinon, F., & Burns, K. (2003) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1019 · Cited by 719 · see citing works

WikiPathways: Pathway Editing for the People

Pico, A. R., Kelder, T., van Iersel, M. P., Hanspers, K., Conklin, B. R., & Evelo, C. (2008) · PLoS Biology · doi:10.1371/journal.pbio.0060184 · Cited by 701 · see citing works

Association Between Microdeletion and Microduplication at 16p11.2 and Autism

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works

NALP1 in Vitiligo-Associated Multiple Autoimmune Disease

Jin, Y., Mailloux, C. M., Gowan, K., Riccardi, S. L., LaBerge, G. S., Bennett, D. C., Fain, P. R., & Spritz, R. A. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa061592 · Cited by 626 · see citing works

A genome-wide linkage and association scan reveals novel loci for autism

The Gene Discovery Project of Johns Hopkins & the Autism Consortium, Weiss, L. A., & Arking, D. E. (2009) · Nature · doi:10.1038/nature08490 · Cited by 619 · see citing works

High-Throughput Gene Mapping in Caenorhabditis elegansPreprint

Swan, K. A., Curtis, D. E., McKusick, K. B., Voinov, A. V., Mapa, F., & Cancilla, M. R. (2002) · Genome Research · doi:10.1101/gr.208902 · Cited by 618 · see citing works

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

Bakkaloglu, B., O'Roak, B. J., Louvi, A., Gupta, A. R., Abelson, J. F., Morgan, T. M., Chawarska, K., Klin, A., Ercan-Sencicek, A. G., Stillman, A. A., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.017 · Cited by 537 · see citing works

Inflammasome Components NALP 1 and 3 Show Distinct but Separate Expression Profiles in Human Tissues Suggesting a Site-specific Role in the Inflammatory Response

Kummer, J. A., Broekhuizen, R., Everett, H., Agostini, L., Kuijk, L., Martinon, F., Bruggen, R. V., & Tschopp, J. (2007) · Journal of Histochemistry & Cytochemistry · doi:10.1369/jhc.6a7101.2006 · Cited by 531 · see citing works

SATB2 Is a Multifunctional Determinant of Craniofacial Patterning and Osteoblast Differentiation

Dobreva, G. D., Chahrour, M. H., Dautzenberg, M., Chirivella, L., Kanzler, B., Fariñas, I., Karsenty, G., & Grosschedl, R. (2006) · Cell · doi:10.1016/j.cell.2006.05.012 · Cited by 522 · see citing works

Neurodevelopmental hypothesis of schizophrenia

Owen, M. J., O'Donovan, M. C., Thapar, A., & Craddock, N. (2011) · British Journal of Psychiatry · doi:10.1192/bjp.bp.110.084384 · Cited by 500 · see citing works

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Weaving, L. S., Christodoulou, J., Williamson, S. L., Friend, K. L., McKenzie, O. L. D., Archer, H. L., Evans, J., Clarke, A. J., Pelka, G. J., Tam, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/426462 · Cited by 500 · see citing works

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., et al. (2010) · Nature Genetics · doi:10.1038/ng.677 · Cited by 499 · see citing works

Genome-wide Translocation Sequencing Reveals Mechanisms of Chromosome Breaks and Rearrangements in B Cells

Chiarle, R., Zhang, Y., Frock, R. L., Lewis, S. M., Molinié, B., Ho, Y.-J., Myers, D. R., Choi, V. W., Compagno, M., Malkin, D. J., et al. (2011) · Cell · doi:10.1016/j.cell.2011.07.049 · Cited by 475 · see citing works

Quantitative comparison of phosphodiesterase mRNA distribution in human brain and peripheral tissues

Lakics, V., Karran, E. H., & Boess, F. (2010) · Neuropharmacology · doi:10.1016/j.neuropharm.2010.05.004 · Cited by 468 · see citing works

The Autism Diagnostic Observation Schedule—Toddler Module: A New Module of a Standardized Diagnostic Measure for Autism Spectrum Disorders

Luyster, R., Gotham, K., Guthrie, W., Coffing, M., Petrak, R., Pierce, K., Bishop, S., Esler, A., Hus, V., Oti, R., et al. (2009) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-009-0746-z · Cited by 468 · see citing works

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

Rossin, E. J., Lage, K., Raychaudhuri, S., Xavier, R. J., Tatar, D., Benita, Y., Constortium, I. I. B. D. G., Cotsapas, C., & Daly, M. J. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001273 · Cited by 438 · see citing works

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A. C., Geneviève, D., Cormier‐Daire, V., Esch, H. V., Fryns, J., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505693 · Cited by 395 · see citing works

NLRs at the intersection of cell death and immunity

Ting, J. P.-Y., Willingham, S. B., & Bergstralh, D. T. (2008) · Nature Reviews Immunology · doi:10.1038/nri2296 · Cited by 371 · see citing works

Genome-wide association study of bipolar disorder in European American and African American individuals

Smith, E. N., Bloss, C. S., Badner, J. A., Barrett, T., Belmonte, P. L., Berrettini, W., Byerley, W., Coryell, W., Craig, D., Edenberg, H. J., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.43 · Cited by 363 · see citing works

Genomewide association for schizophrenia in the CATIE study: results of stage 1

Sullivan, P. F., Lin, D. Y., Tzeng, J., van den Oord, E. J. C. G., Perkins, D. O., Stroup, T. S., Wagner, M. J., Lee, S., Wright, F. A., Zou, F., et al. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.25 · Cited by 354 · see citing works

Translocation-Capture Sequencing Reveals the Extent and Nature of Chromosomal Rearrangements in B Lymphocytes

Klein, I. A., Resch, W., Janković, M., Oliveira, T. Y., Yamane, A., Nakahashi, H., Virgilio, M. D., Bothmer, A., Nussenzweig, A., Robbiani, D. F., et al. (2011) · Cell · doi:10.1016/j.cell.2011.07.048 · Cited by 353 · see citing works

A Neuronal Identity Code for the Odorant Receptor-Specific and Activity-Dependent Axon Sorting

Serizawa, S., Miyamichi, K., Takeuchi, H., Yamagishi, Y., Suzuki, M., & Sakano, H. (2006) · Cell · doi:10.1016/j.cell.2006.10.031 · Cited by 349 · see citing works

A network connecting Runx2, SATB2, and the miR-23a∼27a∼24-2 cluster regulates the osteoblast differentiation program

Hassan, M. Q., Gordon, J. A. R., Beloti, M. M., Croce, C. M., van Wijnen, A. J., Stein, J. L., Stein, G. S., & Lian, J. B. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1007698107 · Cited by 344 · see citing works

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

Duker, A. L., Ballif, B. C., Bawle, E. V., Person, R., Mahadevan, S. K., Alliman, S., Thompson, R., Traylor, R. N., Bejjani, B. A., Shaffer, L. G., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.102 · Cited by 325 · see citing works

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Amiel, J., Rio, M., Pontual, L. D., Redon, R., Malan, V., Boddaert, N., Plouin, P., Carter, N. P., Lyonnet, S., Munnich, A., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/515582 · Cited by 319 · see citing works

A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes

Lage, K., Hansen, N. T., Karlberg, E. O., Eklund, A. C., Roque, F. S., Donahoe, P. K., Szallasi, Z., Jensen, T. S., & Brunak, S. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810772105 · Cited by 292 · see citing works

Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder

Williams, H. J., Norton, N., Dwyer, S., Moskvina, V., Nikolov, I., Carroll, L. S., Georgieva, L., Williams, N. M., Morris, D. W., Quinn, E. M., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2010.36 · Cited by 279 · see citing works

CTCF-Dependent Chromatin Insulator Is Linked to Epigenetic Remodeling

Ishihara, K., Oshimura, M., & Nakao, M. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.08.008 · Cited by 267 · see citing works

The neurology of schizophrenia

Trimble, M. (1987) · British Medical Bulletin · doi:10.1093/oxfordjournals.bmb.a072203 · Cited by 254 · see citing works

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Chiang, C., Jacobsen, J. C., Ernst, C., Hanscom, C., Heilbut, A. M., Blumenthal, I., Mills, R. E., Kirby, A. W., Lindgren, A. M., Rudiger, S. R., et al. (2012) · Nature Genetics · doi:10.1038/ng.2202 · Cited by 252 · see citing works

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.011 · Cited by 249 · see citing works

SMG7 Is a 14-3-3-like Adaptor in the Nonsense-Mediated mRNA Decay Pathway

Fukuhara, N., Ebert, J., Unterholzner, L., Lindner, D., Izaurralde, E., & Conti, E. (2005) · Molecular Cell · doi:10.1016/j.molcel.2005.01.010 · Cited by 242 · see citing works

Replication of association between schizophrenia and ZNF804A in the Irish Case–Control Study of Schizophrenia sample

Riley, B. P., Thiselton, D. L., Maher, B. S., Bigdeli, T., Wormley, B., McMichael, G. O., Fanous, A. H., Vladimirov, V. I., O’Neill, F. A., Walsh, D., et al. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.109 · Cited by 222 · see citing works

CHD8 Is an ATP-Dependent Chromatin Remodeling Factor That Regulates β-Catenin Target Genes

Thompson, B. A., Tremblay, V., Lin, G., & Bochar, D. A. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.00322-08 · Cited by 208 · see citing works

Identification of a Novel Gene on Chromosome 7q11.2 Interrupted by a Translocation Breakpoint in a Pair of Autistic Twins

Sultana, R., Yu, C., Yu, J., MUNSON, J. A., Chen, D., Hua, W., Estes, A. M., Cortés, F. M., de la Barra, F., Yu, D., et al. (2002) · Genomics · doi:10.1006/geno.2002.6810 · Cited by 204 · see citing works

CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis

Nishiyama, M., Oshikawa, K., Tsukada, Y.-I., Nakagawa, T., Iemura, S.-I., Natsume, T., Fan, Y., Kikuchi, A., Skoultchi, A. I., & Nakayama, K. I. (2009) · Nature Cell Biology · doi:10.1038/ncb1831 · Cited by 203 · see citing works

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Kleefstra, T., Smidt, M. P., Banning, M. J. G., Oudakker, A. R., Esch, H. V., de Brouwer, A. P. M., Nillesen, W., Sistermans, E. A., Hamel, B. C. J., de Bruijn, D., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.028464 · Cited by 198 · see citing works

NALP1 Influences Susceptibility to Human Congenital Toxoplasmosis, Proinflammatory Cytokine Response, and Fate ofToxoplasma gondii-Infected Monocytic Cells

Witola, W. H., Mui, E. J., Hargrave, A. C., Liu, S., Hypolite, M., Montpetit, A., Cavaillès, P., Bisanz, C., Cesbron‐Delauw, M., Fournié, G. J., et al. (2010) · Infection and Immunity · doi:10.1128/iai.00898-10 · Cited by 194 · see citing works

A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes

Magitta, N. F., Wolff, A. S. B., Johansson, S., Skinningsrud, B., Lie, B. A., Myhr, K.-M., Undlien, D. E., Joner, G., Njølstad, P. R., Kvien, T. K., et al. (2008) · Genes and Immunity · doi:10.1038/gene.2008.85 · Cited by 194 · see citing works

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

Williams, H. J., Craddock, N. J., Russo, G., Hamshere, M. L., Moskvina, V., Dwyer, S., Smith, R., Green, E., Grozeva, D., Holmans, P., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq471 · Cited by 189 · see citing works

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

Talkowski, M. E., Ernst, C., Heilbut, A. M., Chiang, C., Hanscom, C., Lindgren, A. M., Kirby, A. W., Liu, S., Muddukrishna, B., Ohsumi, T. K., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.03.013 · Cited by 177 · see citing works

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

Rosenfeld, J. A., Ballif, B. C., Lucas, A. M., Spence, E. J., Powell, C. M., Aylsworth, A. S., Torchia, B. A., & Shaffer, L. G. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006568 · Cited by 174 · see citing works

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

Rosenfeld, J. A., Ballif, B. C., Torchia, B. S., Sahoo, T., Ravnan, J. B., Schultz, R., Lamb, A., Bejjani, B. A., & Shaffer, L. G. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f0c5f3 · Cited by 169 · see citing works

Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10 000 sperm donor karyotypes

Ravel, C., Berthaut, I., Bresson, J.-L., & Siffroi, J. P. (2006) · Human Reproduction · doi:10.1093/humrep/del024 · Cited by 167 · see citing works

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Bruno, D. L., Anderlid, B., Lindstrand, A., van Ravenswaaij‐Arts, C. M. A., Ganesamoorthy, D., Lundin, J., Martin, C. L., Douglas, J., Nowak, C. B., Adam, M. P., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069906 · Cited by 165 · see citing works

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Higgins, A. W., Alkuraya, F. S., Bosco, A. F., Brown, K. K., Bruns, G. A. P., Donovan, D., Eisenman, R. E., Fan, Y., Farra, C. G., Ferguson, H. L., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.01.011 · Cited by 148 · see citing works

Genetic Variations in NALP1 Are Associated with Generalized Vitiligo in a Romanian Population

Jin, Y., Birlea, S. A., Fain, P. R., & Spritz, R. A. (2007) · Journal of Investigative Dermatology · doi:10.1038/sj.jid.5700953 · Cited by 146 · see citing works

Psychosis Susceptibility Gene ZNF804A and Cognitive Performance in Schizophrenia

Walters, J., Corvin, A. P., Owen, M. J., Williams, H. J., Dragović, M., Quinn, E. M., Judge, R., Smıth, D. J., Norton, N., Giegling, I., et al. (2010) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2010.81 · Cited by 144 · see citing works

SATB2 interacts with chromatin‐remodeling molecules in differentiating cortical neurons

Gyorgy, A. B., Szemes, M., Romero, C. D. J., Tarabykin, V. S., & Ágoston, D. V. (2008) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2008.06061.x · Cited by 142 · see citing works

Heterozygous nonsense mutationSATB2 associated with cleft palate, osteoporosis, and cognitive defects

Leoyklang, P., Suphapeetiporn, K., Siriwan, P., Desudchit, T., Chaowanapanja, P., Gahl, W. A., & Shotelersuk, V. (2007) · Human Mutation · doi:10.1002/humu.20515 · Cited by 131 · see citing works

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Kalscheuer, V. M., FitzPatrick, D. R., Tommerup, N., Bugge, M., Niebuhr, E., Neumann, L. M., Tzschach, A., Shoichet, S. A., Menzel, C., Erdogan, F., et al. (2007) · Human Genetics · doi:10.1007/s00439-006-0284-0 · Cited by 128 · see citing works

Polymorphisms in NACHT‐LRR ( NLR ) genes in atopic dermatitis

Macaluso, F., Nothnagel, M., Parwez, Q., Petrasch‐Parwez, E., Bechara, F. G., Epplen, J. T., & Hoffjan, S. (2007) · Experimental Dermatology · doi:10.1111/j.1600-0625.2007.00589.x · Cited by 123 · see citing works

PDE10A Inhibitors: Novel Therapeutic Drugs for Schizophrenia

Kehler, J., & Nielsen, J. (2011) · Current Pharmaceutical Design · doi:10.2174/138161211795049624 · Cited by 121 · see citing works

Cognitive state and connectivity effects of the genome-wide significant psychosis variant in ZNF804A

Esslinger, C., Kirsch, P., Haddad, L., Mier, D. U., Sauer, C., Erk, S., Schnell, K., Arnold, C., Witt, S. H., Rietschel, M., et al. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2010.10.012 · Cited by 120 · see citing works

The Human Proteins MBD5 and MBD6 Associate with Heterochromatin but They Do Not Bind Methylated DNA

Laget, S., Joulie, M., Masson, F. L., Sasai, N., Christians, E., Pradhan, S., Roberts, R. J., & Defossez, P. (2010) · PLoS ONE · doi:10.1371/journal.pone.0011982 · Cited by 113 · see citing works

Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Lamb, A. N., Rosenfeld, J. A., Neill, N. J., Talkowski, M. E., Blumenthal, I., Girirajan, S., Keelean-Fuller, D., Fan, Z., Pouncey, J., Stevens, C., et al. (2012) · Human Mutation · doi:10.1002/humu.22037 · Cited by 107 · see citing works

Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature

Némos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Layet, V., N'guyen, M. A., Saunier, A., et al. (2009) · Clinical Genetics · doi:10.1111/j.1399-0004.2009.01194.x · Cited by 101 · see citing works

The Missense Variation Q705K in CIAS1 / NALP3 / NLRP3 Gene and an NLRP1 Haplotype Are Associated With Celiac Disease

Pontillo, A., Vendramin, A., Catamo, E., Fabris, A., & Crovella, S. (2011) · The American Journal of Gastroenterology · doi:10.1038/ajg.2010.474 · Cited by 99 · see citing works

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Zahir, F., Firth, H. V., Baross, Á., Delaney, A. D., Eydoux, P., Gibson, W. T., Langlois, S., Martin, H., Willatt, L. R., Marra, M. A., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.050823 · Cited by 98 · see citing works

A Schizophrenia Risk Gene, ZNF804A, Influences Neuroanatomical and Neurocognitive Phenotypes

Lencz, T., Szeszko, P. R., DeRosse, P., Burdick, K. E., Bromet, E. J., Bilder, R. M., & Malhotra, A. K. (2010) · Neuropsychopharmacology · doi:10.1038/npp.2010.102 · Cited by 96 · see citing works

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

Batsukh, T., Pieper, L., Koszucka, A. M., von Velsen, N., Hoyer-Fender, S., Elbracht, M., Bergman, J. E. H., Hoefsloot, L. H., & Pauli, S. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq189 · Cited by 95 · see citing works

NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis

Dieudé, P., Guedj, M., Wipff, J., Ruiz, B., Riemekasten, G., Airo, P., Melchers, I., HACHULLA, E., Matucci‐Cerinic, M., Diot, É., et al. (2010) · Annals of the Rheumatic Diseases · doi:10.1136/ard.2010.131243 · Cited by 94 · see citing works

The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene

Rodríguez‐Paredes, M., Ceballos-Chávez, M., Esteller, M., García‐Domínguez, M., & Reyes, J. C. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp101 · Cited by 92 · see citing works

Dissecting spatio‐temporal protein networks driving human heart development and related disorders

Lage, K., Møllgård, K., Greenway, S. C., Wakimoto, H., Gorham, J., Workman, C. T., Bendsen, E., Hansen, N. T., Rigina, O., Roque, F. S., et al. (2010) · Molecular Systems Biology · doi:10.1038/msb.2010.36 · Cited by 89 · see citing works

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

Ballif, B. C., Theisen, A. P., McDonald‐McGinn, D. M., Zackai, E. H., Hersh, J. H., Bejjani, B. A., & Shaffer, L. G. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01094.x · Cited by 86 · see citing works

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

Rosenfeld, J. A., Leppig, K. A., Ballif, B. C., Thiese, H. A., Erdie-Lalena, C. R., Bawle, E., Sastry, S., Spence, J. E., Bandholz, A. M., Surti, U., et al. (2009) · Genetics in Medicine · doi:10.1097/gim.0b013e3181bd38a9 · Cited by 85 · see citing works

A coding variant in NLRP1 is associated with autoimmune Addison's disease

Żurawek, M., Fichna, M., Januszkiewicz‐Lewandowska, D., Gryczyńska, M., Fichna, P., & Nowak, J. (2010) · Human Immunology · doi:10.1016/j.humimm.2010.02.004 · Cited by 81 · see citing works

Proteomics Analysis of Cytokine-induced Dysfunction and Death in Insulin-producing INS-1E Cells

D’Hertog, W., Overbergh, L., Lage, K., Ferreira, G. B., Maris, M., Gysemans, C. A., Flamez, D., Cardozo, A. K., den Bergh, G. V., Schoofs, L., et al. (2007) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m700085-mcp200 · Cited by 80 · see citing works

Paraoxonase gene mutations in amyotrophic lateral sclerosis

Ticozzi, N., LeClerc, A. L., Keagle, P. J., Glass, J. D., Wills, A.-M. A., van Blitterswijk, M., Bosco, D. A., Rodríguez‐Leyva, I., Gellera, C., Ratti, A., et al. (2010) · Annals of Neurology · doi:10.1002/ana.21993 · Cited by 78 · see citing works

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

van Bon, B. W. M., Koolen, D. A., Brueton, L. A., McMullan, D. J., Lichtenbelt, K. D., Adès, L. C., Peters, G. B., Gibson, K., Novara, F., Pramparo, T., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.152 · Cited by 78 · see citing works

TCF4, Schizophrenia, and Pitt-Hopkins Syndrome

Blake, D. J., Forrest, M. P., Chapman, R. M., Tinsley, C. L., O’Donovan, M. C., & Owen, M. J. (2010) · Schizophrenia Bulletin · doi:10.1093/schbul/sbq035 · Cited by 76 · see citing works

CHD8 Associates with Human Staf and Contributes to Efficient U6 RNA Polymerase III Transcription

Yuan, C.-C., Zhao, X., Florens, L. A., Swanson, S. K., Washburn, M. P., & Hernandez, N. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.00846-07 · Cited by 72 · see citing works

Familial Temporal Lobe Epilepsy as a Presenting Feature of Choreoacanthocytosis

Al-Asmi, A. R., Jansen, A., Badhwar, A., Dubeau, F., Tampieri, D. I., Shustik, C., Mercho, S., Savard, G., Dobson‐Stone, C., Monaco, A. P., et al. (2005) · Epilepsia · doi:10.1111/j.1528-1167.2005.65804.x · Cited by 64 · see citing works

A cross‐species analysis of Satb2 expression suggests deep conservation across vertebrate lineages

Sheehan‐Rooney, K., Pálinkášová, B., Eberhart, J. K., & Dixon, M. J. (2010) · Developmental Dynamics · doi:10.1002/dvdy.22483 · Cited by 62 · see citing works

The impact of a genome‐wide supported psychosis variant in the ZNF804A gene on memory function in schizophrenia

Hashimoto, R., Ohi, K., Yasuda, Y., Fukumoto, M., Iwase, M., Iike, N., Azechi, M., Ikezawa, K., Takaya, M., Takahashi, H., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31123 · Cited by 61 · see citing works

The Psychosis Susceptibility Gene ZNF804A: Associations, Functions, and Phenotypes

Donohoe, G. J., Morris, D. W., & Corvin, A. P. (2010) · Schizophrenia Bulletin · doi:10.1093/schbul/sbq080 · Cited by 57 · see citing works

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: Four additional patients

Schiff, M., Delahaye‐Duriez, A., Andrieux, J., Sanlaville, D., Vincent‐Delorme, C., Aboura, A., Benzacken, B., Bouquillon, S., Elmaleh, M., Labalme, A., et al. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.06.009 · Cited by 51 · see citing works

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

Huang, X., Zou, Y. S., Maher, T. A., Newton, S. A., & Milunsky, J. M. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33497 · Cited by 51 · see citing works

Integrative analysis for finding genes and networks involved in diabetes and other complex diseases

Bergholdt, R., Størling, Z. M., Lage, K., Karlberg, E. O., Olason, P. I., Aalund, M., Nerup, J., Brunak, S., Workman, C. T., & Pociot, F. (2007) · Genome biology · doi:10.1186/gb-2007-8-11-r253 · Cited by 51 · see citing works

Epilepsy caused by CDKL5 mutations

Castrén, M. L., Gaily, E. K., Tengström, C., Lähdetie, J., Archer, H. L., & Ala‐Mello, S. (2010) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2010.04.005 · Cited by 50 · see citing works

Expression of NALP1 in cerebellar granule neurons stimulates apoptosis

Liu, F., Lo, C. F., Ning, X., Kajkowski, E. M., Jin, M., Chiriac, C., Gonzales, C., Naureckiene, S., Lock, Y., Pong, K., et al. (2004) · Cellular Signalling · doi:10.1016/j.cellsig.2004.02.006 · Cited by 44 · see citing works

Expression profiling identifies genes involved in emphysema severity

Francis, S. M. S., Larsen, J. E., Pavey, S. J., Bowman, R., Hayward, N. K., Fong, K. M., & Yang, I. A. (2009) · Respiratory Research · doi:10.1186/1465-9921-10-81 · Cited by 43 · see citing works

Allelic differences in nuclear protein binding at a genome-wide significant risk variant for schizophrenia in ZNF804A

Hill, M., & Bray, N. J. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.21 · Cited by 42 · see citing works

ZNF804A may be associated with executive control of attention

Balog, Z., Kiss, I., & Kéri, S. (2010) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2010.00657.x · Cited by 40 · see citing works

Serum paraoxonase activity is associated with variants in the PON gene cluster and risk of Alzheimer disease

Erlich, P. M., Lunetta, K. L., Cupples, L. A., Abraham, C. R., Green, R. C., Baldwin, C. T., & Farrer, L. A. (2010) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.08.003 · Cited by 39 · see citing works

Common variants in NLRP2 and NLRP3 genes are strong prognostic factors for the outcome of HLA-identical sibling allogeneic stem cell transplantation

Granell, M., Urbano-Ispizúa, Á., Pons, A., Aróstegui, J. I., Gel, B., Navarro, A., Jansà, S., Artells, R., Gayà, A., Talarn, C., et al. (2008) · Blood · doi:10.1182/blood-2007-12-129247 · Cited by 39 · see citing works

Impact on schizotypal personality trait of a genome-wide supported psychosis variant of the ZNF804A gene

Yasuda, Y., Hashimoto, R., Ohi, K., Fukumoto, M., Umeda‐Yano, S., Yamamori, H., Okochi, T., Iwase, M., Kazui, H., Iwata, N., et al. (2011) · Neuroscience Letters · doi:10.1016/j.neulet.2011.03.069 · Cited by 38 · see citing works

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

Urquhart, J. E., Black, G. C. M., & Clayton‐Smith, J. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.06.003 · Cited by 37 · see citing works

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

White, R., Ho, G., Schmidt, S., Scheffer, I. E., Fischer, A. E., Yendle, S. C., Bienvenu, T., Nectoux, J., Ellaway, C., Darmanian, A., et al. (2010) · Twin Research and Human Genetics · doi:10.1375/twin.13.2.168 · Cited by 37 · see citing works

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation

Hyon, C., Marlin, S., Chantot‐Bastaraud, S., Mabboux, P., Beaujard, M., Ageeli, E. A., Vazquez, M., Picard, A., Siffroi, J., & Portnoï, M. (2011) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.12.006 · Cited by 30 · see citing works

Expression of mKirre, a mammalian homolog of Drosophila kirre, in the developing and adult mouse brain

Tamura, S., Morikawa, Y., Hisaoka, T., Ueno, H., Kitamura, T., & Senba, E. (2005) · Neuroscience · doi:10.1016/j.neuroscience.2005.03.030 · Cited by 28 · see citing works

Deletion of 14-3-3ε and CRK : A Clinical Syndrome With Macrocephaly, Developmental Delay, and Generalized Epilepsy

Tenney, J. R., Hopkin, R. J., & Schapiro, M. B. (2010) · Journal of Child Neurology · doi:10.1177/0883073810379638 · Cited by 27 · see citing works

Mouse Homologue of the Schizophrenia Susceptibility GeneZNF804Aas a Target of Hoxc8

Chung, H. J., Lee, J., Deocaris, C. C., Min, H., Kim, S. H., & Kim, M. H. (2010) · BioMed Research International · doi:10.1155/2010/231708 · Cited by 26 · see citing works

The neurobiology of schizophrenia: new leads and avenues for treatment

Bray, N. J., Leweke, F. M., Kapur, S., & Meyer‐Lindenberg, A. (2010) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2010.09.008 · Cited by 26 · see citing works

Expression of NALP1 in cerebellar granule neurons stimulates apoptosis

LIU, F., LO, C., Ning, X., et al. (2004) · Cellular Signalling · doi:10.1016/s0898-6568(04)00027-0 · Cited by 26 · see citing works

Genomic Organization of the Human Gα14 and Gαq Genes and Mutation Analysis in Chorea–Acanthocytosis (CHAC)

Rubio, J. P., Levy, E. R., Dobson‐Stone, C., & Monaco, A. P. (1999) · Genomics · doi:10.1006/geno.1999.5758 · Cited by 24 · see citing works

Expression of mKirre in the developing sensory pathways: Its close apposition to nephrin-expressing cells

Morikawa, Y., Komori, T., Hisaoka, T., Ueno, H., Kitamura, T., & Senba, E. (2007) · Neuroscience · doi:10.1016/j.neuroscience.2007.10.013 · Cited by 21 · see citing works

Clinical symptomatology and the psychosis risk gene ZNF804A

Cummings, E., Donohoe, G. J., McDonald, C., Dinan, T. G., O’Neill, F. A., O’Callaghan, E., Waddington, J. L., Murphy, K. C., Gill, M., Morris, D. W., et al. (2010) · Schizophrenia Research · doi:10.1016/j.schres.2010.05.022 · Cited by 18 · see citing works

Multiple Transcriptional Variants and RNA Editing inC18orf1,a Novel Gene with LDLRA and Transmembrane Domains on 18p11.2

Yoshikawa, T., Sanders, A. R., Esterling, L. E., & Detera-Wadleigh, S. D. (1998) · Genomics · doi:10.1006/geno.1997.5118 · Cited by 17 · see citing works

Two-step association analyses of the chromosome 18p11.2 region in schizophrenia detect a locus encompassing C18orf1

Kikuchi, M., Yamada, K., Toyota, T., Itokawa, M., Hattori, E., Yoshitsugu, K., Shimizu, H., & Yoshikawa, T. (2003) · Molecular Psychiatry · doi:10.1038/sj.mp.4001280 · Cited by 13 · see citing works

C18orf1 located on chromosome 18p11.2 may confer susceptibility to schizophrenia.

Kikuchi, M., Yamada, K., Toyota, T., & Yoshikawa, T. (2003) · PubMed · Cited by 11 · see citing works

Genetic characterization of general transcription factors TFIIF and TFIIB of Homo sapiens sapiens

Purrello, M., Pietro, C. D., Rapisarda, A., Mirabile, E., Motta, S., SICHEL, G., & Grzeschik, K.-H. (2008) · Cytogenetics and Cell Genetics · doi:10.1159/000133942 · Cited by 10 · see citing works

Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia

Meerabux, J., Ohba, H., Iwayama, Y., Maekawa, M., Detera‐Wadleigh, S. D., DeLisi, L. E., & Yoshikawa, T. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2009.47 · Cited by 8 · see citing works

Assignment of the Human GTF2F1 Gene to Chromosome 19p13.3

Aso, T., Tsai, P., Kawaguchi, T., Menninger, J. C., Kitajima, S., Yasukochi, Y., Ward, D. C., & Weissman, S. M. (1993) · Genomics · doi:10.1006/geno.1993.1168 · Cited by 3 · see citing works

Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci

Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.09.016 · Cited by 1,430 · see citing works

Most genetic risk for autism resides with common variation

Gaugler, T., Klei, L., Sanders, S. J., Bodea, C. A., Goldberg, A. P., Lee, A. B., Mahajan, M., Manaa, D., Pawitan, Y., Reichert, J., et al. (2014) · Nature Genetics · doi:10.1038/ng.3039 · Cited by 1,239 · see citing works

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012) · Science · doi:10.1126/science.1227764 · Cited by 1,240 · see citing works

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature · doi:10.1038/s41586-020-2287-8 · Cited by 1,037 · see citing works

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

C Yuen, R. K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R. V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4524 · Cited by 844 · see citing works

Maternal immune activation and abnormal brain development across CNS disorders

Knuesel, I., Chicha, L., Britschgi, M., Schobel, S. A., Bodmer, M., Hellings, J. A., Toovey, S., & Prinssen, E. P. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.187 · Cited by 880 · see citing works

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Chaisson, M. J. P., Sanders, A. D., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E. J., Rodriguez, O. L., Guo, L., Collins, R. L., et al. (2019) · Nature Communications · doi:10.1038/s41467-018-08148-z · Cited by 891 · see citing works

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A. T., et al. (2014) · Cell · doi:10.1016/j.cell.2014.06.017 · Cited by 798 · see citing works

Structural variation in the 3D genome

Spielmann, M., Lupiáñez, D. G., & Mundlos, S. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0007-0 · Cited by 719 · see citing works

Phenotypic impact of genomic structural variation: insights from and for human disease

Weischenfeldt, J., Symmons, O., Spitz, F., & Korbel, J. O. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3373 · Cited by 648 · see citing works

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01104-0 · Cited by 640 · see citing works

Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

The Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium (2017) · Molecular Autism · doi:10.1186/s13229-017-0137-9 · Cited by 587 · see citing works

Autism spectrum disorder: neuropathology and animal models

Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536 · see citing works

From neural development to cognition: unexpected roles for chromatin

Ronan, J. L., Wu, W., & Crabtree, G. R. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3413 · Cited by 544 · see citing works

Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism

Gupta, S., Ellis, S. E., Ashar, F. N., Moes, A., Bader, J. S., Zhan, J., West, A. B., & Arking, D. E. (2014) · Nature Communications · doi:10.1038/ncomms6748 · Cited by 504 · see citing works

Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing

Veres, A., Gosis, B. S., Ding, Q., Collins, R., Ragavendran, A., Brand, H., Erdin, S., Cowan, C. A., Talkowski, M. E., & Musunuru, K. (2014) · Cell Stem Cell · doi:10.1016/j.stem.2014.04.020 · Cited by 474 · see citing works

Genetics and genomics of psychiatric disease

Geschwind, D. H., & Flint, J. (2015) · Science · doi:10.1126/science.aaa8954 · Cited by 424 · see citing works

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

Parikshak, N. N., Gandal, M. J., & Geschwind, D. H. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3934 · Cited by 430 · see citing works

A de novo convergence of autism genetics and molecular neuroscience

Krumm, N., O’Roak, B. J., Shendure, J., & Eichler, E. E. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2013.11.005 · Cited by 423 · see citing works

Molecular genetic testing and the future of clinical genomics

Huston, S., & Katsanis, N. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3493 · Cited by 422 · see citing works

Serotonin in the Modulation of Neural Plasticity and Networks: Implications for Neurodevelopmental Disorders

Lesch, K.-P., & Waider, J. (2012) · Neuron · doi:10.1016/j.neuron.2012.09.013 · Cited by 435 · see citing works

The role of de novo mutations in the genetics of autism spectrum disorders

Ronemus, M., Iossifov, I., Levy, D., & Wigler, M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3585 · Cited by 390 · see citing works

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Helsmoortel, C., Vulto-van Silfhout, A. T., Coe, B. P., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J. H. M., Marcelis, C. L., Willemsen, M. H., Vissers, L. E. L. M., et al. (2014) · Nature Genetics · doi:10.1038/ng.2899 · Cited by 354 · see citing works

A cross-disorder dosage sensitivity map of the human genome

Collins, R. L., Glessner, J., Porcu, E., Lepamets, M., Brandon, R. C., Lauricella, C., Han, L., Morley, T. J., Niestroj, L., Ulirsch, J. C., et al. (2022) · Cell · doi:10.1016/j.cell.2022.06.036 · Cited by 377 · see citing works

CHD8 haploinsufficiency results in autistic-like phenotypes in mice

Katayama, Y., Nishiyama, M., Shoji, H., Ohkawa, Y., Kawamura, A., Sato, T., Suyama, M., Takumi, T., Miyakawa, T., & Nakayama, K. I. (2016) · Nature · doi:10.1038/nature19357 · Cited by 353 · see citing works

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3720 · Cited by 334 · see citing works

<i>CHD8</i> regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Sugathan, A., Biagioli, M., Golzio, C., Erdin, S., Blumenthal, I., Manavalan, P., Ragavendran, A., Brand, H., Lucente, D., Miles, J., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1405266111 · Cited by 342 · see citing works

A mitochondrial bioenergetic etiology of disease

Wallace, D. C. (2013) · Journal of Clinical Investigation · doi:10.1172/jci61398 · Cited by 342 · see citing works

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

Werling, D. M., Brand, H., An, J.-Y., Stone, M. R., Zhu, L., Glessner, J. T., Collins, R. L., Dong, S., Layer, R. M., Markenscoff-Papadimitriou, E., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0107-y · Cited by 293 · see citing works

The WAVE regulatory complex links diverse receptors to the actin cytoskeleton

Chen, B., Brinkmann, K., Chen, Z., Pak, C. W., Liao, Y., Shi, S., Henry, L., Grishin, N. V., Bogdan, S., & Rosen, M. K. (2014) · Cell · doi:10.1016/j.cell.2013.11.048 · Cited by 323 · see citing works

Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity

Gilbert, J. P., & Man, H. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00359 · Cited by 274 · see citing works

The Emerging Picture of Autism Spectrum Disorder: Genetics and Pathology

Chen, J. A., Peñagarikano, O., Belgard, T. G., Swarup, V., & Geschwind, D. H. (2015) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012414-040405 · Cited by 254 · see citing works

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells

Wang, P., Mokhtari, R., Pedrosa, E., Kirschenbaum, M. A., Bayrak, C., Zheng, D., & Lachman, H. M. (2017) · Molecular Autism · doi:10.1186/s13229-017-0124-1 · Cited by 255 · see citing works

Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits

Platt, R. J., Zhou, Y., Slaymaker, I. M., Shetty, A. S., Weisbach, N. R., Kim, J.-A., Sharma, J., Desai, M., Sood, S., Kempton, H. R., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.03.052 · Cited by 240 · see citing works

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer, K., Yuan, H., Schutz, H. M., Winschel, A., Chen, W., Hu, C., Kusumoto, H., Heyne, H., Helbig, K. L., Tang, S., et al. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-104509 · Cited by 251 · see citing works

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

Griesi-Oliveira, K., Acab, A., Gupta, A. R., Sunaga, D. Y., Chailangkarn, T., Nicol, X., Nunez, Y., Walker, M. F., Murdoch, J. D., Sanders, S. J., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.141 · Cited by 236 · see citing works

Medical comorbidities in children and adolescents with autism spectrum disorders and attention deficit hyperactivity disorders: a systematic review

Muskens, J. B., Velders, F. P., & Staal, W. G. (2017) · European Child &amp; Adolescent Psychiatry · doi:10.1007/s00787-017-1020-0 · Cited by 232 · see citing works

Genome-wide characteristics of de novo mutations in autism

Yuen, R. K., Merico, D., Cao, H., Pellecchia, G., Alipanahi, B., Thiruvahindrapuram, B., Tong, X., Sun, Y., Cao, D., Zhang, T., et al. (2016) · npj Genomic Medicine · doi:10.1038/npjgenmed.2016.27 · Cited by 216 · see citing works

Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling

Durak, O., Gao, F., Kaeser-Woo, Y. J., Rueda, R., Martorell, A. J., Nott, A., Liu, C. Y., Watson, L. A., & Tsai, L.-H. (2016) · Nature Neuroscience · doi:10.1038/nn.4400 · Cited by 243 · see citing works

Human GRIN2B variants in neurodevelopmental disorders

Hu, C., Chen, W., Myers, S. J., Yuan, H., & Traynelis, S. F. (2016) · Journal of Pharmacological Sciences · doi:10.1016/j.jphs.2016.10.002 · Cited by 230 · see citing works

Synergistic effects of common schizophrenia risk variants

Schrode, N., Ho, S., Yamamuro, K., Dobbyn, A. L., Huckins, L. M., Matos, M. R., Cheng, E., Deans, P. J. M., Flaherty, E. K., Barretto, N., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0497-5 · Cited by 223 · see citing works

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

Aneichyk, T., Hendriks, W. T. J., Yadav, R., Shin, D. S., Gao, D., Vaine, C. A., Collins, R. L., Domingo, A., Currall, B., Stortchevoi, A., et al. (2018) · Cell · doi:10.1016/j.cell.2018.02.011 · Cited by 226 · see citing works

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice

Wang, I.-T. J., Allen, M., Goffin, D., Zhu, X., Fairless, A. H., Brodkin, E. S., Siegel, S. J., Marsh, E. D., Blendy, J. A., & Zhou, Z. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1216988110 · Cited by 218 · see citing works

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Collins, R. L., Brand, H., Redin, C. E., Hanscom, C., Antolik, C. W., Stone, M. R., Glessner, J., Mason, T., Pregno, G., Dorrani, N., et al. (2017) · Genome biology · doi:10.1186/s13059-017-1158-6 · Cited by 203 · see citing works

Genome-Wide Association Studies for Growth and Meat Production Traits in Sheep

Zhang, L., Liu, J., Zhao, F., Ren, H., Xu, L., Lü, J., Zhang, S., Zhang, X., Wei, C., Lu, G., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0066569 · Cited by 199 · see citing works

NMDA receptor subunit mutations in neurodevelopmental disorders

Burnashev, N., & Szepetowski, P. (2014) · Current Opinion in Pharmacology · doi:10.1016/j.coph.2014.11.008 · Cited by 194 · see citing works

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

Talkowski, M. E., Ordulu, Z., Pillalamarri, V., Benson, C. B., Blumenthal, I., Connolly, S. A., Hanscom, C., Hussain, N., Pereira, S., Picker, J. D., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1208594 · Cited by 195 · see citing works

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

Kenny, E. M., Cormican, P., Furlong, S., Heron, E. A., Kenny, G., Fahey, C., Kelleher, E., Ennis, S., Tropea, D., Anney, R., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.127 · Cited by 190 · see citing works

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.12.011 · Cited by 185 · see citing works

The emerging roles of TCF4 in disease and development

Forrest, M. P., Hill, M., Quantock, A. J., Martin‐Rendon, E., & Blake, D. J. (2014) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2014.01.010 · Cited by 171 · see citing works

Molecular Genetic Contributions to Social Deprivation and Household Income in UK Biobank

Hill, W. D., Hagenaars, S. P., Marioni, R. E., Harris, S. E., Liewald, D. C. M., Davies, G., Okbay, A., McIntosh, A. M., Galé, C. R., & Deary, I. J. (2016) · Current Biology · doi:10.1016/j.cub.2016.09.035 · Cited by 176 · see citing works

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Lionel, A. C., Tammimies, K., Vaags, A. K., Rosenfeld, J. A., Ahn, J. W., Merico, D., Noor, A., Runke, C. K., Pillalamarri, V. K., Carter, M. T., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt669 · Cited by 163 · see citing works

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment

Wang, P., Lin, M., Pedrosa, E., Hrabovsky, A., Zhang, Z., Guo, W., Lachman, H. M., & Zheng, D. (2015) · Molecular Autism · doi:10.1186/s13229-015-0048-6 · Cited by 169 · see citing works

Wnt signaling networks in autism spectrum disorder and intellectual disability

Kwan, V., Unda, B. K., & Singh, K. K. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9176-3 · Cited by 171 · see citing works

Of mice and men: molecular genetics of congenital heart disease

Andersen, T. A., Troelsen, K. D. L. L., & Larsen, L. A. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-013-1430-1 · Cited by 170 · see citing works

A decade of structural variants: description, history and methods to detect structural variation

Escaramís, G., Docampo, E., & Rabionet, R. (2015) · Briefings in Functional Genomics · doi:10.1093/bfgp/elv014 · Cited by 170 · see citing works

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Iqbal, Z., Vandeweyer, G., van der Voet, M., Waryah, A., Zahoor, M., Besseling, J., Roca, L. T., Silfhout, A. T. V.-V., Nijhof, B., Kramer, J. M., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt043 · Cited by 175 · see citing works

Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution

Oksenberg, N., Stevison, L., Wall, J. D., & Ahituv, N. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003221 · Cited by 167 · see citing works

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Lionel, A. C., Vaags, A. K., Sato, D., Gazzellone, M. J., Mitchell, E. B., Chen, H. Y., Costain, G., Walker, S., Egger, G., Thiruvahindrapuram, B., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt056 · Cited by 162 · see citing works

Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour

Bacon, C., Schneider, M., Le Magueresse, C., Froehlich, H., Sticht, C., Gluch, C., Monyer, H., & Rappold, G. A. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.116 · Cited by 148 · see citing works

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

UK10K, Riazuddin, S. A., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D. L., Song, Y., van Beusekom, E., Khan, A. A., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.109 · Cited by 159 · see citing works

Loss of δ-catenin function in severe autism

Turner, T. N., Sharma, K., Oh, E. C. T., Liu, Y. P., Collins, R. L., Sosa, M. X., Auer, D. R., Brand, H., Sanders, S., Moreno‐De‐Luca, D., et al. (2015) · Nature · doi:10.1038/nature14186 · Cited by 151 · see citing works

The role of AUTS2 in neurodevelopment and human evolution

Oksenberg, N., & Ahituv, N. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.08.001 · Cited by 153 · see citing works

Distinct roles of GRIN2A and GRIN2B variants in neurological conditions

Myers, S. J., Yuan, H., Kang, J., Tan, F. C. K., Traynelis, S. F., & Low, C. (2019) · F1000Research · doi:10.12688/f1000research.18949.1 · Cited by 147 · see citing works

The Chromatin Remodeler CHD7 Regulates Adult Neurogenesis via Activation of SoxC Transcription Factors

Feng, W., Khan, M. A., Bellvís, P., Zhu, Z., Bernhardt, O., Herold‐Mende, C. C., & Liu, H. (2013) · Cell stem cell · doi:10.1016/j.stem.2013.05.002 · Cited by 150 · see citing works

Zinc: An underappreciated modulatory factor of brain function

Marger, L., Schubert, C. R., & Bertrand, D. (2014) · Biochemical Pharmacology · doi:10.1016/j.bcp.2014.08.002 · Cited by 146 · see citing works

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

Blumenthal, I., Ragavendran, A., Erdin, S., Klei, L., Sugathan, A., Guide, J. R., Manavalan, P., Zhou, J. Q., Wheeler, V. C., Levin, J. Z., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.05.004 · Cited by 145 · see citing works

Multi-platform discovery of haplotype-resolved structural variation in human genomesPreprint

Chaisson, M., Sanders, A. D., Zhao, X., Malhotra, A., Porubskỳ, D., Rausch, T., Gardner, E. J., Rodriguez, O. L., Guo, L., Collins, R. L., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/193144 · Cited by 145 · see citing works

Cytoskeletal Regulation by AUTS2 in Neuronal Migration and Neuritogenesis

Hori, K., Nagai, T., Shan, W., Sakamoto, A., Taya, S., Hashimoto, R., Hayashi, T., Abe, M., Yamazaki, M., Nakao, K., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.11.045 · Cited by 133 · see citing works

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

Bacon, C., & Rappold, G. (2012) · Human Genetics · doi:10.1007/s00439-012-1193-z · Cited by 142 · see citing works

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

Corominas, R., Yang, X., Lin, G. N., Kang, S., Shen, Y., Ghamsari, L., Broly, M., Rodriguez, M., Tam, S., Wanamaker, S. A., et al. (2014) · Nature Communications · doi:10.1038/ncomms4650 · Cited by 140 · see citing works

Epigenetic Etiology of Intellectual Disability

Iwase, S., Bérubé, N. G., Zhou, Z., Kasri, N. N., Battaglioli, E., Scandaglia, M., & Barco, Á. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.1840-17.2017 · Cited by 137 · see citing works

Partial loss of psychiatric risk gene Mir137 in mice causes repetitive behavior and impairs sociability and learning via increased Pde10a

Cheng, Y., Wang, Z., Tan, W., Wang, X., Li, Y., Bai, B., Li, Y., Zhang, S.-F., Yan, H., Chen, Z.-L., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0261-7 · Cited by 136 · see citing works

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

Liu, L., Lei, J., Sanders, S., Willsey, A. J., Kou, Y., Cicek, A. E., Klei, L., Lu, C., He, X., Li, M., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-22 · Cited by 130 · see citing works

Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice

Suetterlin, P., Hurley, S., Mohan, C., Riegman, K. L. H., Pagani, M., Caruso, A., Ellegood, J., Galbusera, A., Crespo‐Enríquez, I., Michetti, C., et al. (2018) · Cerebral Cortex · doi:10.1093/cercor/bhy058 · Cited by 128 · see citing works

De novo mutations and rare variants occurring in NMDA receptors

XiangWei, W., Jiang, Y., & Yuan, H. (2017) · Current Opinion in Physiology · doi:10.1016/j.cophys.2017.12.013 · Cited by 127 · see citing works

Comorbidity of Physical and Mental Disorders in the Neurodevelopmental Genomics Cohort Study

Merikangas, K. R., Calkins, M. E., Burstein, M., He, J., Chiavacci, R. M., Lateef, T. M., Ruparel, K., Gur, R. C., Lehner, T., Hakonarson, H. H., et al. (2015) · PEDIATRICS · doi:10.1542/peds.2014-1444 · Cited by 129 · see citing works

Regulation of neuronal migration, an emerging topic in autism spectrum disorders

Reiner, O., Karzbrun, E., Kshirsagar, A., & Kaibuchi, K. (2015) · Journal of Neurochemistry · doi:10.1111/jnc.13403 · Cited by 123 · see citing works

Optical Genome Mapping in Routine Human Genetic Diagnostics—Its Advantages and Limitations

Dremsek, P., Schwarz, T., Weil, B., Malashka, A., Laccone, F. A., & Neesen, J. (2021) · Genes · doi:10.3390/genes12121958 · Cited by 121 · see citing works

Axonal Membranes and Their Domains: Assembly and Function of the Axon Initial Segment and Node of Ranvier

Nelson, A. D., & Jenkins, P. M. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00136 · Cited by 120 · see citing works

Long Chain Fatty Acyl-CoA Synthetase 4 Is a Biomarker for and Mediator of Hormone Resistance in Human Breast Cancer

Wu, X., Li, Y., Wang, J., Wen, X., Marcus, M. T., Daniels, G., Zhang, D. Y., Ye, F., Wang, L. H., Du, X., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0077060 · Cited by 118 · see citing works

Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer’s pathologies

Malishkevich, A., Amram, N., Hacohen-Kleiman, G., Magen, I., Giladi, E., & Gozes, I. (2015) · Translational Psychiatry · doi:10.1038/tp.2014.138 · Cited by 109 · see citing works

De novo TBR1 mutations in sporadic autism disrupt protein functions

Deriziotis, P., O’Roak, B. J., Graham, S. A., Estruch, S. B., Dimitropoulou, D., Bernier, R., Gerdts, J. A., Shendure, J., Eichler, E. E., & Fisher, S. E. (2014) · Nature Communications · doi:10.1038/ncomms5954 · Cited by 115 · see citing works

From trans to cis: transcriptional regulatory networks in neocortical development

Shibata, M., Gulden, F. O., & Sestan, N. (2015) · Trends in Genetics · doi:10.1016/j.tig.2014.12.004 · Cited by 109 · see citing works

Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

Forrest, M. P., Waite, A. J., Martin‐Rendon, E., & Blake, D. J. (2013) · PLoS ONE · doi:10.1371/journal.pone.0073169 · Cited by 112 · see citing works

Promoter Decommissioning by the NuRD Chromatin Remodeling Complex Triggers Synaptic Connectivity in the Mammalian Brain

Yamada, T., Yang, Y., Hemberg, M., Yoshida, T., Cho, H. Y., Murphy, J. P., Fioravante, D., Regehr, W. G., Gygi, S. P., Georgopoulos, K., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.05.039 · Cited by 111 · see citing works

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

Schluth‐Bolard, C., Labalme, A., Cordier, M., Till, M., Nadeau, G., Tevissen, H., Lesca, G., Boutry‐Kryza, N., Rossignol, S., Rocas, D., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101351 · Cited by 112 · see citing works

SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

Zárate, Y. A., & Fish, J. L. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38022 · Cited by 112 · see citing works

Review on Genomic Regions and Candidate Genes Associated with Economically Important Production and Reproduction Traits in Sheep (Ovies aries)

Gebreselassie, G., Berihulay, H., Jiang, L., & Ma, Y. (2019) · Animals · doi:10.3390/ani10010033 · Cited by 112 · see citing works

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

Belyeu, J. R., Brand, H., Wang, H., Zhao, X., Pedersen, B. S., Feusier, J. E., Gupta, M., Nicholas, T. J., Brown, J., Baird, L. M., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.02.012 · Cited by 105 · see citing works

Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology

Barnard, R., Pomaville, M. B., & O’Roak, B. J. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00477 · Cited by 108 · see citing works

Evolution of GluN2A/B cytoplasmic domains diversified vertebrate synaptic plasticity and behavior

Ryan, T. J., Kopanitsa, M. V., Indersmitten, T., Nithianantharajah, J., Afinowi, N. O., Pettit, C., Stanford, L. E., Sprengel, R., Saksida, L. M., Bussey, T. J., et al. (2012) · Nature Neuroscience · doi:10.1038/nn.3277 · Cited by 108 · see citing works

De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism

Cappi, C., Oliphant, M. E., Péter, Z., Zai, G. C., do Rosário, M. C., Sullivan, C. A. W., Gupta, A. R., Hoffman, E. J., Virdee, M., Olfson, E., et al. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.09.029 · Cited by 104 · see citing works

The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes

Wilkinson, B., Grepo, N., Thompson, B. L., Kim, J. Y., Wang, K., Evgrafov, O. V., Lu, W., Knowles, J. A., & Campbell, D. B. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.62 · Cited by 101 · see citing works

The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability

Forrest, M. P., Hill, M., Kavanagh, D. H., Tansey, K. E., Waite, A. J., & Blake, D. J. (2017) · Schizophrenia Bulletin · doi:10.1093/schbul/sbx164 · Cited by 103 · see citing works

FOXP transcription factors in vertebrate brain development, function, and disorders

Co, M., Anderson, A. G., & Konopka, G. (2020) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.375 · Cited by 102 · see citing works

<i>FOXP1</i> mutations cause intellectual disability and a recognizable phenotype

Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul‐Rahman, O. A., O'Donnell, S., Burgess, T., Shaw, M., Gecz, J., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36174 · Cited by 98 · see citing works

Further delineation of the SATB2 phenotype

Döcker, D., Schubach, M., Menzel, M., Munz, M., Spaich, C., Biskup, S., & Bartholdi, D. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.280 · Cited by 100 · see citing works

POGZ truncating alleles cause syndromic intellectual disability

White, J. J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Hagman, K. D. F., Powis, Z., Mendelsohn, N. J., Baker, J. A., et al. (2016) · Genome Medicine · doi:10.1186/s13073-015-0253-0 · Cited by 98 · see citing works

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

Zollino, M., Zweier, C., Balkom, I. D. V., Sweetser, D. A., Alaimo, J. T., Bijlsma, E. K., Cody, J. D., Elsea, S. H., Giurgea, I., Macchiaiolo, M., et al. (2019) · Clinical Genetics · doi:10.1111/cge.13506 · Cited by 99 · see citing works

A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence

Yang, M. S., & Gill, M. (2006) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2006.12.002 · Cited by 118 · see citing works

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Jurado, L. A. P., Kvarnung, M., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-18723-y · Cited by 199 · see citing works

Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes

Wang, T., Zhang, Y., Liu, L., Wang, Y., Chen, H., Fan, T., Li, J., Xia, K., & Sun, Z. S. (2021) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2021.03.002 · Cited by 19 · see citing works

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders

Azidane, S., Gallego, X., Durham, L., Cáceres, M., Güney, E., & Pérez‐Cano, L. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100316 · Cited by 5 · see citing works

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics · doi:10.1038/ng.3792 · Cited by 559 · see citing works