Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

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

Untitled work

(1943) · The Nervous child · Cited by 8,870 · see citing works

Synaptic, transcriptional and chromatin genes disrupted in autism

Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature · doi:10.1038/nature13772 · Cited by 2,746 · see citing works

Global Prevalence of Autism and Other Pervasive Developmental Disorders

Elsabbagh, M., Divan, G., Koh, Y., Kim, Y. S., Kauchali, S., Marcín, C., Montiel‐Nava, C., Patel, V., Paula, C. S., Wang, C., et al. (2012) · Autism Research · doi:10.1002/aur.239 · Cited by 2,636 · see citing works

The contribution of de novo coding mutations to autism spectrum disorder

Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585 · see citing works

Autistic disturbances of affective contact.

Kanner, L. (1968) · PubMed · Cited by 2,273 · see citing works

Targeted capture and massively parallel sequencing of 12 human exomes

Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030 · see citing works

Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012

Christensen, D. L., Baio, J., Braun, K. V. N., Bilder, D., Charles, J., Constantino, J. N., Daniels, J., Durkin, M. S., Fitzgerald, R. T., Kurzius-Spencer, M., et al. (2016) · MMWR. Surveillance Summaries · doi:10.15585/mmwr.ss6503a1 · Cited by 1,964 · see citing works

Diagnostic exome sequencing in persons with severe intellectual disability

de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546 · see citing works

Prevalence of Autism Spectrum Disorders in a Total Population Sample

Kim, Y. S., Leventhal, B. L., Koh, Y.-J., Fombonne, E., Laska, E., Lim, E.-C., Cheon, K.-A., Kim, S.-J., Kim, Y.-K., Lee, H., et al. (2011) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2011.10101532 · Cited by 1,524 · see citing works

De novo mutations in epileptic encephalopathies

Epi4K Consortium, & Epilepsy Phenome/Genome Project (2013) · Nature · doi:10.1038/nature12439 · Cited by 1,514 · see citing works

Prevalence and architecture of de novo mutations in developmental disorders

Study, D. D. D. (2017) · Nature · doi:10.1038/nature21062 · Cited by 1,480 · 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

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

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

A framework for the interpretation of de novo mutation in human disease

Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3050 · Cited by 979 · see citing works

Epidemiology of Autism Spectrum Disorders in Adults in the Community in England

Brugha, T. S., McManus, S., Bankart, J., Scott, F., Purdon, S., Smith, J., Bebbington, P., Jenkins, R., & Meltzer, H. (2011) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2011.38 · Cited by 903 · 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

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

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.534 · Cited by 667 · see citing works

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Jacquemont, S., Coe, B. P., Hersch, M., Duyzend, M. H., Krumm, N., Bergmann, S., Beckmann, J. S., Rosenfeld, J. A., & Eichler, E. E. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.02.001 · Cited by 605 · see citing works

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

iPSYCH-SSI-Broad Autism Group, Robinson, E. B., St Pourcain, B., Anttila, V., Kosmicki, J. A., Bulik-Sullivan, B., Grove, J., Maller, J., Samocha, K. E., Sanders, S. J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3529 · Cited by 367 · see citing works

De novo genic mutations among a Chinese autism spectrum disorder cohort

Wang, T., Guo, H., Xiong, B., Stessman, H. A. F., Wu, H., Coe, B. P., Turner, T. N., Liu, Y., Zhao, W., Hoekzema, K., et al. (2016) · Nature Communications · doi:10.1038/ncomms13316 · Cited by 359 · 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

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Kosmicki, J. A., Samocha, K. E., Howrigan, D. P., Sanders, S. J., Slowikowski, K., Lek, M., Karczewski, K. J., Cutler, D. J., Devlin, B., Roeder, K., et al. (2017) · Nature Genetics · doi:10.1038/ng.3789 · Cited by 340 · see citing works

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

O'Roak, B. J., Stessman, H. A., Boyle, E. A., Witherspoon, K. T., Martin, B., Lee, C., Vives, L., Baker, C., Hiatt, J. B., Nickerson, D. A., et al. (2014) · Nature Communications · doi:10.1038/ncomms6595 · Cited by 336 · see citing works

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variationPreprint

Hiatt, J. B., Pritchard, C. C., Salipante, S. J., O’Roak, B. J., & Shendure, J. (2013) · Genome Research · doi:10.1101/gr.147686.112 · Cited by 325 · see citing works

Progress toward treatments for synaptic defects in autism

Delorme, R., Ey, E., Toro, R., Leboyer, M., Gillberg, C., & Bourgeron, T. (2013) · Nature Medicine · doi:10.1038/nm.3193 · Cited by 218 · see citing works

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

van Bon, B. W. M., Coe, B. P., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., Kleefstra, T., Willemsen, M. H., Kumar, R., Bosco, P., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.5 · Cited by 204 · see citing works

Prevalence of autism in mainland China, Hong Kong and Taiwan: a systematic review and meta-analysis

Sun, X., Allison, C., Matthews, F. E., Sharp, S. J., Auyeung, B., Baron-Cohen, S., & Brayne, C. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-7 · Cited by 200 · see citing works

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Schaaf, C. P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr243 · Cited by 175 · see citing works

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Geisheker, M. R., Heymann, G., Wang, T., Coe, B. P., Turner, T. N., Stessman, H. A. F., Hoekzema, K., Kvarnung, M., Shaw, M. A., Friend, K. L., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4589 · Cited by 175 · see citing works

Autism traits in the RASopathies

Adviento, B., Corbin, I. L., Widjaja, F., Desachy, G., Enrique, N., Rosser, T., Risi, S., Marco, E. J., Hendren, R. L., Bearden, C. E., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101951 · Cited by 174 · see citing works

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Stessman, H. A. F., Willemsen, M. H., Fencková, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.02.004 · Cited by 155 · see citing works

Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology

Orosco, L. A., Ross, A. P., Cates, S. L., Scott, S. E., Wu, D., Sohn, J., Pleasure, D., Pleasure, S. J., Adamopoulos, I. E., & Zarbalis, K. S. (2014) · Nature Communications · doi:10.1038/ncomms5692 · Cited by 90 · see citing works

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

Tarailo‐Graovac, M., Zhu, J., Matthews, A., van Karnebeek, C., & Wasserman, W. W. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.50 · Cited by 74 · see citing works

Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q

Akshoomoff, N. A., Mattson, S. N., & Grossfeld, P. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.86 · Cited by 73 · see citing works

Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships

Bahi‐Buisson, N., Villeneuve, N., Caietta, E., Jacquette, A., Maurey, H., Matthijs, G., Esch, H. V., Delahaye‐Duriez, A., Moncla, A., Milh, M., et al. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35401 · Cited by 61 · see citing works

Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders

Mitra, I., Lavillaureix, A., Yeh, E., Traglia, M., Tsang, K. M., Bearden, C. E., Rauen, K. A., & Weiss, L. A. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006516 · Cited by 46 · see citing works

NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse

Schuster, S., Rivalan, M., Strauß, U., Stoenica, L., Trimbuch, T., Rademacher, N., Parthasarathy, S., Lajkó, D., Rosenmund, C., Shoichet, S. A., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2015.42 · Cited by 25 · see citing works

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

Stenson, P. D., Mort, M. E., Ball, E. V., Chapman, M., Evans, K., Azevedo, L., Hayden, M., Heywood, S., Millar, D. S., Phillips, A. D., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02199-3 · Cited by 793 · see citing works

Neurodevelopmental Disorders: From Genetics to Functional Pathways

Parenti, I., Rabaneda, L. G., Schoen, H., & Novarino, G. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.05.004 · Cited by 634 · see citing works

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Zhou, X., Feliciano, P., Shu, C., Wang, T., Astrovskaya, I., Hall, J. B., Obiajulu, J. U., Wright, J. R., Murali, S. C., Xu, S. X., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01148-2 · Cited by 453 · see citing works

From cohorts to molecules: adverse impacts of endocrine disrupting mixtures

Caporale, N., Leemans, M., Birgersson, L., Germain, P.-L., Cheroni, C., Borbély, G., Engdahl, E., Lindh, C., Bressan, R. B., Cavallo, F., et al. (2022) · Science · doi:10.1126/science.abe8244 · Cited by 368 · see citing works

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Feliciano, P., Zhou, X., Astrovskaya, I., Turner, T. N., Wang, T., Brueggeman, L., Barnard, R., Hsieh, A., Snyder, L. G., Muzny, D. M., et al. (2019) · npj Genomic Medicine · doi:10.1038/s41525-019-0093-8 · Cited by 247 · 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

Insufficient Evidence for “Autism-Specific” Genes

Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.004 · Cited by 165 · see citing works

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

Turner, T. N., Wilfert, A. B., Bakken, T. E., Bernier, R. A., Pepper, M. R., Zhang, Z., Torene, R. I., Retterer, K., & Eichler, E. E. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.11.003 · Cited by 159 · see citing works

Neurodevelopmental Disorders Associated with PSD-95 and Its Interaction Partners

Levy, A. M., Gómez‐Puertas, P., & Tümer, Z. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23084390 · Cited by 98 · see citing works

Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy

Zhuang, H., Liang, Z., Ma, G., Qureshi, A., Ran, X., Feng, C., Liu, X., Yan, X., & Shen, L. (2024) · MedComm · doi:10.1002/mco2.497 · Cited by 106 · see citing works

Rho GTPase Regulators and Effectors in Autism Spectrum Disorders: Animal Models and Insights for Therapeutics

Guo, D., Yang, X., & Shi, L. (2020) · Cells · doi:10.3390/cells9040835 · Cited by 73 · see citing works

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Aspromonte, M. C., Bellini, M., Gasparini, A., Carraro, M., Bettella, E., Polli, R., Cesca, F., Bigoni, S., Boni, S., Carlet, O., et al. (2019) · Human Mutation · doi:10.1002/humu.23822 · Cited by 64 · see citing works

KDM5A mutations identified in autism spectrum disorder using forward genetics

Hayek, L. E., Tuncay, İ. O., Nijem, N., Russell, J. L., Ludwig, S. M., Kaur, K. J., Li, X., Anderton, P. D., Tang, M., Gerard, A., et al. (2020) · eLife · doi:10.7554/elife.56883 · Cited by 59 · see citing works

DLG4-related synaptopathy: a new rare brain disorder

Rodríguez‐Palmero, A., Boerrigter, M. M., Gómez‐Andrés, D., Aldinger, K. A., Marcos‐Alcalde, Í., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-020-01075-9 · Cited by 64 · see citing works

Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders

Searles, V. B., Wang, B., & State, M. W. (2020) · Neuropsychopharmacology · doi:10.1038/s41386-020-0768-y · Cited by 52 · see citing works

Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing

Michetti, C., Falace, A., Benfenati, F., & Fassio, A. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105856 · Cited by 52 · see citing works

Effects of the l-tyrosine-derived bacterial metabolite p-cresol on colonic and peripheral cells

Blachier, F., & Andriamihaja, M. (2021) · Amino Acids · doi:10.1007/s00726-021-03064-x · Cited by 49 · see citing works

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Mirzaa, G., Chong, J. X., Piton, A., Popp, B., Foss, K., Guo, H., Harripaul, R., Xia, K., Scheck, J., Aldinger, K. A., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0693-9 · Cited by 49 · see citing works

Neuronal α2δ proteins and brain disorders

Ablinger, C., Geisler, S. M., Stanika, R. I., Klein, C., & Obermair, G. J. (2020) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-020-02420-2 · Cited by 46 · see citing works

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

Ward, T. L., Tai, W. C., Morton, S. U., Impens, F., Damme, P. V., Haver, D. V., Timmerman, E., Venturini, G., Zhang, K., Jang, M. Y., et al. (2021) · Circulation Research · doi:10.1161/circresaha.120.316966 · Cited by 45 · see citing works

Vitamin D Deficiency During Pregnancy and Autism Spectrum Disorders Development

Principi, N., & Esposito, S. (2020) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00987 · Cited by 43 · see citing works

Phenotype‐to‐genotype approach reveals head‐circumference‐associated genes in an autism spectrum disorder cohort

Wu, H., Li, H., Bai, T., Han, L., Ou, J., Xun, G., Zhang, Y., Wang, Y., Duan, G., Zhao, N., et al. (2019) · Clinical Genetics · doi:10.1111/cge.13665 · Cited by 42 · see citing works

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Nakashima, M., Kato, M., Matsukura, M., Kira, R., Ngu, L. H., Lichtenbelt, K. D., van Gassen, K. L. I., Mitsuhashi, S., Saitsu, H., & Matsumoto, N. (2020) · Journal of Human Genetics · doi:10.1038/s10038-020-0758-2 · Cited by 41 · see citing works

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, H., Zhang, Q., Dai, R., Yu, B., Hoekzema, K., Tan, J., Tan, S., Jia, X., Chung, W. K., Hernan, R., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.10.002 · Cited by 38 · see citing works

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test

Sheth, F. J., Shah, J., Jain, D. K., Shah, S. N., Patel, H., Patel, K., Solanki, D., Iyer, A. S., Menghani, B., Mhatre, P., et al. (2023) · BMC Neurology · doi:10.1186/s12883-023-03341-0 · Cited by 38 · see citing works

A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling

Qin, Y., Du, Y., Chen, L., Liu, Y., Xu, W., Liu, Y., Li, Y., Leng, J., Wang, Y., Zhang, X., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01539-1 · Cited by 34 · see citing works

Evaluating heterogeneity in <scp>ASD</scp> symptomatology, cognitive ability, and adaptive functioning among 16p11.2 <scp>CNV</scp> carriers

Hudac, C. M., Bove, J., Barber, S., Duyzend, M., Wallace, A., Martin, C. L., Ledbetter, D. H., Hanson, E., Goin‐Kochel, R. P., Green‐Snyder, L., et al. (2020) · Autism Research · doi:10.1002/aur.2332 · Cited by 31 · see citing works

Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes

Rhine, C. L., Neil, C. R., Wang, J., Maguire, S., Buerer, L., Salomon, M., Meremikwu, I. C., Kim, J. E., Strande, N. T., & Fairbrother, W. G. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1009884 · Cited by 31 · see citing works

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

Granadillo, J. L., Stegmann, A. P. A., Guo, H., Xia, K., Angle, B., Bontempo, K., Ranells, J. D., Newkirk, P., Costin, C., Viront, J., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106470 · Cited by 29 · see citing works

High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies

Rafi, S. K., Fernández‐Jaén, A., Álvarez, S., Nadeau, O. W., & Butler, M. G. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20133358 · Cited by 28 · see citing works

What are quantitative traits and how can they be used in autism research?

Lyall, K. (2023) · Autism Research · doi:10.1002/aur.2937 · Cited by 29 · see citing works

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Padhi, E. M., Hayeck, T. J., Cheng, Z., Chatterjee, S., Mannion, B. J., Byrska‐Bishop, M. S., Willems, M., Pinson, L., Redon, S., Bénech, C., et al. (2021) · Human Genomics · doi:10.1186/s40246-021-00342-3 · Cited by 25 · see citing works

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

Leonardi, E., Bettella, E., Pelizza, M. F., Aspromonte, M. C., Polli, R., Boniver, C., Sartori, S., Milani, D., & Murgia, A. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.593446 · Cited by 25 · see citing works

Identification of de novo Mutations in the Chinese Autism Spectrum Disorder Cohort via Whole-Exome Sequencing Unveils Brain Regions Implicated in Autism

Yuan, B., Wang, M., Wu, X., Cheng, P., Zhang, R., Zhang, R., Yu, S., Zhang, J., Du, Y., Wang, X., et al. (2023) · Neuroscience Bulletin · doi:10.1007/s12264-023-01037-6 · Cited by 26 · see citing works

Autism-associated ANK2 regulates embryonic neurodevelopment

Kawano, S., Baba, M., Fukushima, H., Miura, D., Hashimoto, H., & Nakazawa, T. (2022) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2022.03.058 · Cited by 23 · see citing works

A study of genetic heterogeneity in autism spectrum disorders based on plasma proteomic and metabolomic analysis: multiomics study of autism heterogeneity

Tang, X., Feng, C., Zhao, Y., Zhang, H., Gao, Y. L., Cao, X., Qi, H., Jing, L., Zhuang, H., Feng, Y., et al. (2023) · MedComm · doi:10.1002/mco2.380 · Cited by 24 · see citing works

A de novo variant of CHD8 in a patient with autism spectrum disorder

Alotaibi, M., & Ramzan, K. (2020) · Discoveries · doi:10.15190/d.2020.4 · Cited by 24 · see citing works

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

Dias, C., Pfundt, R., Kleefstra, T., Schuurs-Hoeijmakers, J. H. M., Boon, E. M. J., van Hagen, J. M., Zwijnenburg, P. J. G., Weiss, M. M., Keren, B., Mignot, C., et al. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62254 · Cited by 24 · see citing works

Autism Spectrum Disorder: Genetic Mechanisms and Inheritance Patterns

Monica, I. L., Iorio, M. R. D., Sica, A., Rufino, F., Sotira, C., Pastore, L., & Lombardo, B. (2025) · Genes · doi:10.3390/genes16050478 · Cited by 31 · see citing works

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Velmans, C., O’Donnell‐Luria, A., Argilli, E., Mau‐Them, F. T., Vitobello, A., Chan, M. C. Y., Fung, J. L. F., Rech, M., Abicht, A., Aubert‐Mucca, M., et al. (2021) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2020-107470 · Cited by 23 · see citing works

Counteracting epigenetic mechanisms regulate the structural development of neuronal circuitry in human neurons

Cheon, S. H., Culver, A. M., Bagnell, A. M., Ritchie, F. D., Vacharasin, J. M., McCord, M. M., Papendorp, C. M., Chukwurah, E., Smith, A. J., Cowen, M. H., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01474-1 · Cited by 27 · see citing works

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder

Kim, I. B., Lee, T., Lee, J., Kim, J., Lee, S., Koh, I. G., Kim, J. H., An, J., Lee, H., Kim, W. K., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01697-2 · Cited by 26 · see citing works

An evolutionary perspective on complex neuropsychiatric disease

McClellan, J., Zoghbi, A. W., Buxbaum, J. D., Cappi, C., Crowley, J. J., Jonathan Flint, C., Grice, D. E., Gülsüner, S., Iyegbe, C. O., Jain, S., et al. (2023) · Neuron · doi:10.1016/j.neuron.2023.10.037 · Cited by 23 · see citing works

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Dyment, D. A., O’Donnell‐Luria, A., Agrawal, P. B., Coban‐Akdemir, Z., Aleck, K. A., Antaki, D., Alsharhan, H., Au, P. Y. B., Aydın, H., Beggs, A. H., et al. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61926 · Cited by 21 · see citing works

Knockout of Katnal2 Leads to Autism-like Behaviors and Developmental Delay in Zebrafish

Zheng, J., Long, F., Cao, X., Xiong, B., & Li, Y. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23158389 · Cited by 21 · 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

An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development

Zhang, R., He, H., Yuan, B., Wu, Z., Wang, X., Du, Y., Chen, Y., & Qiu, Z. (2021) · Neuroscience Bulletin · doi:10.1007/s12264-021-00685-w · Cited by 19 · see citing works

Transition from Animal-Based to Human Induced Pluripotent Stem Cells (iPSCs)-Based Models of Neurodevelopmental Disorders: Opportunities and Challenges

Guerreiro, S. R., & Maciel, P. (2023) · Cells · doi:10.3390/cells12040538 · Cited by 20 · see citing works

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder

Caumes, R., Smol, T., Thuillier, C., Balerdi, M., Roche‐Lestienne, C., Manouvrier‐Hanu, S., & Ghoumid, J. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104072 · Cited by 19 · see citing works

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings

Dhaliwal, J., Qiao, Y., Calli, K., Martell, S., Race, S., Chijiwa, C., Glodjo, A., Jones, S. J. M., Rajcan‐Separovic, E., Scherer, S. W., et al. (2021) · Genes · doi:10.3390/genes12071053 · Cited by 18 · see citing works

Genetic advances in neurodevelopmental disorders

Gao, S., Shan, C., Zhang, R., & Wang, T. (2024) · Medical Review · doi:10.1515/mr-2024-0040 · Cited by 19 · see citing works

Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy

Feng, W., Fang, F., Wang, X., Chen, C., Lu, J., & Deng, J. (2022) · Pediatric Investigation · doi:10.1002/ped4.12321 · Cited by 17 · see citing works

FMRP binding to a ranked subset of long genes is revealed by coupled CLIP and TRAP in specific neuronal cell typesPreprint

Driesche, S. J. V., Sawicka, K., Zhang, C., Hung, K. Y. S., Park, C. Y., Fak, J. J., Yang, C., Darnell, R. B., & Darnell, J. C. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/762500 · Cited by 17 · see citing works

ASH1L mutation caused seizures and intellectual disability in twin sisters

Liu, H., Liu, D.-T., Lan, S., Yang, Y., Huang, J., Huang, J., & Fang, L. (2021) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2021.06.038 · Cited by 16 · see citing works

Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis

Chen, G., Han, L., Tan, S., Jia, X., Wu, H., Quan, Y., Zhang, Q., Yu, B., Hu, Z., Xia, K., et al. (2022) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2022.03.004 · Cited by 17 · see citing works

Pilot Study of Maternal Autoantibody–Related Autism

Angkustsiri, K., Fussell, J. J., Bennett, A., Schauer, J. D., Ramirez-Celis, A., Hansen, R. L., & de Water, J. V. (2022) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0000000000001100 · Cited by 16 · see citing works

A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder

Iwafuchi, S., Kikuchi, A., Endo, W., Inui, T., Aihara, Y., Satou, K., Kaname, T., & Kure, S. (2020) · Brain and Development · doi:10.1016/j.braindev.2020.09.015 · Cited by 15 · see citing works

Alterations of presynaptic proteins in autism spectrum disorder

Yeo, X. Y., Lim, Y. T., Chae, W. R., Park, C., Park, H., & Jung, S. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.1062878 · Cited by 15 · see citing works

Neuronal knockdown of Cullin3 as a Drosophila model of autism spectrum disorder

Tener, S. J., Lin, Z., Park, S. J., Oraedu, K., Ulgherait, M., van Beek, E., Martínez-Muñiz, A., Pantalia, M., Gatto, J. A., Volpi, J., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-51657-9 · Cited by 15 · see citing works

The autism-associated loss of δ-catenin functions disrupts social behavior

Mendez-Vazquez, H., Roach, R. L., Nip, K., Chanda, S., Sathler, M. F., Garver, T., Danzman, R. A., Moseley, M. C., Roberts, J. P., Koch, O. N., et al. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2300773120 · Cited by 14 · see citing works

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders

Jauss, R., Schließke, S., & Jamra, R. A. (2022) · Genes · doi:10.3390/genes13122305 · Cited by 14 · see citing works

Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders

Chen, M., Quan, Y., Duan, G., Wu, H., Bai, T., Wang, Y., Zhou, S., Ou, J., Shen, Y., Hu, Z., et al. (2021) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2021.104200 · Cited by 14 · see citing works

Psychiatric disorders in China: strengths and challenges of contemporary research and clinical services

Chang, X., Gong, Q., Li, C., Yue, W., Yu, X., Yao, S., & Feng, J. (2021) · Psychological Medicine · doi:10.1017/s0033291721002816 · Cited by 14 · see citing works

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder

Wang, L., Zhang, Y., Li, K., Wang, Z., Wang, X., Li, B., Zhao, G., Fang, Z., Ling, Z., Luo, T., et al. (2020) · Molecular Autism · doi:10.1186/s13229-020-00382-x · Cited by 12 · see citing works

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

Sorrentino, U., Boesch, S., Doummar, D., Ravelli, C., Serranová, T., Indelicato, E., Winkelmann, J., Bürglen, L., Jech, R., & Zech, M. (2024) · Journal of Neurology · doi:10.1007/s00415-024-12271-x · Cited by 12 · see citing works

Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice

Kang, R., Kim, K., Jung, Y., Choi, S., Lee, C., Im, G. H., Shin, M., Ryu, K., Choi, S., Yang, E., et al. (2024) · PLoS Biology · doi:10.1371/journal.pbio.3002596 · Cited by 12 · see citing works

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

Levchenko, O. A., Леонидовна, Д. Е., Бессонова, Л. А., Demina, N., Rudenskaya, G. E., Matyushchenko, G., Маркова, Т. В., Anisimova, I. V., Semenova, N. A., Shchagina, O., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23147764 · Cited by 11 · see citing works

Neural activation, cognitive control, and attention deficit hyperactivity disorder: Evaluating three competing etiological models

Peisch, V. D., & Arnett, A. B. (2022) · Development and Psychopathology · doi:10.1017/s095457942200116x · Cited by 11 · see citing works

Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder

Doddato, G., Fabbiani, A., Scandurra, V., Canitano, R., Mencarelli, M. A., Renieri, A., & Ariani, F. (2022) · Genes · doi:10.3390/genes13040688 · Cited by 11 · see citing works

WDFY3 mutation alters laminar position and morphology of cortical neurons

Schaaf, Z. A., Tat, L., Cannizzaro, N., Panoutsopoulos, A. A., Green, R., Rülicke, T., Hippenmeyer, S., & Zarbalis, K. S. (2022) · Molecular Autism · doi:10.1186/s13229-022-00508-3 · Cited by 10 · see citing works

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort

Ben‐Mahmoud, A., Gupta, V. R., Aleem, A. K. A., Thompson, I. R., Aden, A., Mbarek, H., Saad, C., Tolefat, M., Alshaban, F. A. W., Stanton, L. W., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252111551 · Cited by 12 · see citing works

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders

Zhang, Y., Wang, T., Wang, Y., Xia, K., Li, J., & Sun, Z. S. (2021) · Molecular Neurobiology · doi:10.1007/s12035-021-02377-y · Cited by 9 · see citing works

Brain region and gene dosage-differential transcriptomic changes in Shank2-mutant mice

Yoo, Y.-E., Yoo, T., Kang, H., & Kim, E. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.977305 · Cited by 9 · see citing works

Characterizing the Expression Patterns of Parkinson’s Disease Associated Genes

Li, B., Zhao, G., Li, K., Wang, Z., Fang, Z., Wang, X., Luo, T., Zhang, Y., Wang, Y., Chen, Q., et al. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.629156 · Cited by 9 · see citing works

Editorial overview: Rare CNV disorders and neuropsychiatric phenotypes: opportunities, challenges, solutions

Mullé, J. G., Sullivan, P. F., & Hjerling‐Leffler, J. (2021) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2021.05.002 · Cited by 9 · see citing works

Behavioral and Sensory Deficits Associated with Dysfunction of GABAergic System in a Novel shank2-Deficient Zebrafish Model

Wang, Y., Liu, C., Deng, J., Xu, Q., Lin, J., Li, H., Hu, M., Hu, C., Li, Q., & Xu, X. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24032208 · Cited by 9 · see citing works

Loss of the polarity protein Par3 promotes dendritic spine neoteny and enhances learning and memory

Voglewede, M. M., Ozsen, E. N., Ivak, N. A., Bernabucci, M., Tang, R., Sun, M., Pang, Z. P., & Zhang, H. (2024) · iScience · doi:10.1016/j.isci.2024.110308 · Cited by 7 · see citing works

KMT5B is required for early motor development

Hulen, J., Kenny, D., Black, R., Hallgren, J., Hammond, K. G., Bredahl, E. C., Wickramasekara, R. N., Abel, P. W., & Stessman, H. A. F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.901228 · Cited by 9 · see citing works

Characterization of Intellectual disability and Autism comorbidity through gene panel sequencingPreprint

Aspromonte, M. C., Bellini, M., Gasparini, A., Carraro, M., Bettella, E., Polli, R., Cesca, F., Bigoni, S., Boni, S., Carlet, O., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/545772 · Cited by 8 · see citing works

seGMM: A New Tool for Gender Determination From Massively Parallel Sequencing Data

Liu, S., Zeng, Y., Wang, C., Zhang, Q., Chen, M., Wang, X., Wang, L., Lu, Y., Guo, H., & Bu, F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.850804 · Cited by 7 · see citing works

Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits

Hessenberger, M., Haddad, S., & Obermair, G. J. (2023) · Handbook of experimental pharmacology · doi:10.1007/164_2022_630 · Cited by 7 · see citing works

Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman

Gupta, V. R., Ben‐Mahmoud, A., Idris, A. B., Hottenga, J., Habbab, W., Alsayegh, A., Kim, H., Al-Mamari, W. S., & Stanton, L. W. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252413700 · Cited by 7 · see citing works

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder

Xie, Y., Wang, H., Hu, B., Zhang, X., Liu, A., Cai, C., Li, S., Chen, C., Wang, Z., Yin, Z., et al. (2022) · Children · doi:10.3390/children10010080 · Cited by 7 · see citing works

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

Ben‐Mahmoud, A., Jun, K. R., Gupta, V. R., Shastri, P., de la Fuente, A., Park, Y., Shin, K. C., Kim, C. A., da Cruz, A. D., Pinto, I. P., et al. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.979061 · Cited by 7 · see citing works

Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan

Perfilyeva, A. V., Беспалова, К., Perfilyeva, Y. V., Skvortsova, L., Musralina, L., Zhunussova, G., Khussainova, E., Iskakova, U., Bekmanov, B., & Djansugurova, L. (2022) · Disease Markers · doi:10.1155/2022/1509994 · Cited by 6 · see citing works

Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder

Schwarz, M., Géryk, J., Havlovičová, M., Mihulová, M., Turnovec, M., Ryba, L., Martinková, J., Maçek, M., Palmer, R., Kočandrlová, K., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-60376-0 · Cited by 6 · see citing works

The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism

Vanzo, R. J., Prasad, A., Staunch, L., Hensel, C. H., Serrano, M. A., Wassman, E. R., Kaplun, A., Grandin, T., & Boles, R. G. (2020) · Journal of Personalized Medicine · doi:10.3390/jpm11010021 · Cited by 6 · see citing works

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome

Ben‐Mahmoud, A., Kishikawa, S., Gupta, V. R., Leach, N. T., Shen, Y., Moldovan, O., Goel, H., Hopper, B., Ranguin, K., Gruchy, N., et al. (2023) · Scientific Reports · doi:10.1038/s41598-023-40037-4 · Cited by 5 · see citing works

Prenatal exposure to valproic acid reduces synaptic δ-catenin levels and disrupts ultrasonic vocalization in neonates

Roh, S. H., Mendez-Vazquez, H., Sathler, M. F., Doolittle, M. J., Zaytseva, A., Brown, H., Sainsbury, M., & Kim, S. (2023) · Neuropharmacology · doi:10.1016/j.neuropharm.2024.109963 · Cited by 6 · see citing works

Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease

Shennib, O., Raines, O., Karamian, A. G. S., & Williams, M. E. (2025) · Frontiers in Neurology · doi:10.3389/fneur.2025.1662931 · Cited by 5 · see citing works

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes

Kim, I. B., Kim, M.-H., Jung, S., Kim, W. K., Lee, J., Ju, Y. S., Webster, M. J., Kim, J. H., Kim, J., Kim, H. J., et al. (2024) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01284-1 · Cited by 5 · see citing works

Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns

Silver, H., Greenberg, R., Siper, P. M., Zweifach, J., Soufer, R., Şahin, M., Berry‐Kravis, E., Soorya, L. V., Thurm, A., Bernstein, J. A., et al. (2025) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-025-09600-0 · Cited by 4 · see citing works

The BEHAVE application as a tool to monitor inclusive interventions for subjects with neurodevelopmental disorders

Merlo, G., Chifari, A., Chiazzese, G., Denaro, P., Firrera, N., Savio, N. L., Patti, S., Palmegiano, L., Taibi, D., & Seta, L. (2023) · Frontiers in Psychology · doi:10.3389/fpsyg.2022.943370 · Cited by 5 · see citing works

Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila

Chen, E., Schmitt, J., McIntosh, G., Young, B. P., Lian, T., Liu, J., Chen, K. K., Liston, J. B., MacDonald, L., Wang, B., et al. (2025) · Genetics · doi:10.1093/genetics/iyaf121 · Cited by 5 · see citing works

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation

Zhang, Q., Wang, Y., Zhou, J., Zhou, R., Liu, A., Meng, L., Ji, X., Hu, P., & Xu, Z. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2248 · Cited by 5 · see citing works

Identification of novel SHANK2 variants in two Chinese families via exome and RNA sequencing

Wu, Y., Li, W., Tan, B., & Luo, S. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1275421 · Cited by 5 · see citing works

Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder

Regev, O., Shil, A., Bronshtein, T., Hadar, A., Meiri, G., Zigdon, D., Michaelovski, A., Dinstein, I., Hershkovitz, R., & Menashe, I. (2024) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-024-09573-6 · Cited by 4 · see citing works

Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant

Paprocka, J., Ziętkiewicz, S., Kosińska, J., Kaczorowska, E., & Płoski, R. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.735292 · Cited by 4 · see citing works

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: Evidence supporting whole exome sequencing as first tier testPreprint

Sheth, F. J., Shah, J., Jain, D. K., Shah, S. N., Patel, H., Patel, K., Solanki, D., Iyer, A. S., Menghani, B., Mhatre, P., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-2888202/v1 · Cited by 4 · see citing works

Proteome-Wide Assessment of Clustering of Missense Variants in Neurodevelopmental Disorders Versus CancerPreprint

Ng, J. K., Chen, Y., Akinwe, T. M., Heins, H. B., Mehinovic, E., Chang, Y., Payne, Z. L., Manuel, J. G., Karchin, R., & Turner, T. N. (2024) · medRxiv · doi:10.1101/2024.02.02.24302238 · Cited by 4 · see citing works

Recent ultra-rare inherited mutations identify novel autism candidate risk genesPreprint

Wilfert, A. B., Turner, T. N., Murali, S. C., Hsieh, P., Sulovari, A., Wang, T., Coe, B. P., Guo, H., Hoekzema, K., Bakken, T. E., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.10.932327 · Cited by 14 · see citing works

Additional file 14: of Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Guo, H., Wang, T., Wu, H., Long, M., Coe, B. P., Li, H., Xun, G., Ou, J., Chen, B., Duan, G., et al. (2018) · Figshare · doi:10.6084/m9.figshare.7465655

De novo genic mutations among a Chinese autism spectrum disorder cohort

Wang, T., Guo, H., Xiong, B., Stessman, H. A. F., Wu, H., Coe, B. P., Turner, T. N., Liu, Y., Zhao, W., Hoekzema, K., et al. (2016) · Nature Communications · doi:10.1038/ncomms13316 · Cited by 359 · see citing works

Additional file 13: of Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Guo, H., Wang, T., Wu, H., Long, M., Coe, B. P., Li, H., Xun, G., Ou, J., Chen, B., Duan, G., et al. (2018) · Figshare · doi:10.6084/m9.figshare.7465643

Additional file 10: of Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

Guo, H., Wang, T., Wu, H., Long, M., Coe, B. P., Li, H., Xun, G., Ou, J., Chen, B., Duan, G., et al. (2018) · Figshare · doi:10.6084/m9.figshare.7465622