Whole-genome sequencing of quartet families with autism spectrum disorder
Abstract
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of susceptibility loci. Previous microarray and exome-sequencing studies have examined portions of the genome in simplex families (parents and one ASD-affected child) having presumed sporadic forms of the disorder. We used whole-genome sequencing (WGS) of 85 quartet families (parents and two ASD-affected siblings), consisting of 170 individuals with ASD, to generate a comprehensive data resource encompassing all classes of genetic variation (including noncoding variants) and accompanying phenotypes, in apparently familial forms of ASD. By examining de novo and rare inherited single-nucleotide and structural variations in genes previously reported to be associated with ASD or other neurodevelopmental disorders, we found that some (69.4%) of the affected siblings carried different ASD-relevant mutations. These siblings with discordant mutations tended to demonstrate more clinical variability than those who shared a risk variant. Our study emphasizes that substantial genetic heterogeneity exists in ASD, necessitating the use of WGS to delineate all genic and non-genic susceptibility variants in research and in clinical diagnostics.
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Rare expansion burden was higher in known ASD-risk genes from SFARI (OR=2.51; p=0.03).
“burden of rare tandem repeat expansions was significantly more pronounced in known ASD-risk genes from SFARI40 (OR=2.51; p=0.03)”
From Genome-wide detection of tandem DNA repeats that are expanded in autism (2020) · cites this paper as [40]
Recent findings highlight within family diversity in the de novo and rare inherited genetic mutations linked to sibling ASD.
“Recent findings highlight within family diversity in the de novo and rare inherited genetic mutations linked to sibling ASD [44].”
From Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study (2015) · cites this paper as [44]
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,380 · see citing works
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877 · see citing works
A general framework for estimating the relative pathogenicity of human genetic variants
Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M., & Shendure, J. (2014) · Nature Genetics · doi:10.1038/ng.2892 · Cited by 6,183 · see citing works
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · 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
Self-citationPredicting Deleterious Amino Acid SubstitutionsPreprint
Ng, P. C., & Henikoff, S. (2001) · Genome Research · doi:10.1101/gr.176601 · Cited by 2,667 · 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
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · see citing works
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013 · see citing works
Self-citationStructural 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
Self-citationAssociation 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
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
Tennessen, J. A., Bigham, A. W., O’Connor, T. D., Fu, W., Kenny, E. E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. (2012) · Science · doi:10.1126/science.1219240 · Cited by 1,613 · see citing works
Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study
Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., Bryson, S., Carver, L. J., Constantino, J. N., Dobkins, K., et al. (2011) · Pediatrics · doi:10.1542/peds.2010-2825 · Cited by 1,429 · see citing works
Self-citationMapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402 · see citing works
The Database of Genomic Variants: a curated collection of structural variation in the human genome
MacDonald, J. R., Ziman, R., Yuen, R. K. C., Feuk, L., & Scherer, S. W. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt958 · Cited by 1,346 · see citing works
Self-citationUBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304 · see citing works
The human splicing code reveals new insights into the genetic determinants of disease
Xiong, H. Y., Alipanahi, B., Lee, L. J., Bretschneider, H., Merico, D., Yuen, R. K. C., Hua, Y., Gueroussov, S., Najafabadi, H. S., Hughes, T., et al. (2014) · Science · doi:10.1126/science.1254806 · Cited by 1,225 · see citing works
Self-citationHuman Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010) · Science · doi:10.1126/science.1181498 · Cited by 1,212 · see citing works
Genome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125 · see citing works
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Roach, J. C., Glusman, G., Smit, A. F. A., Huff, C. D., Hubley, R., Shannon, P. T., Rowen, L., Pant, K. P., Goodman, N., Bamshad, M., et al. (2010) · Science · doi:10.1126/science.1186802 · Cited by 1,084 · see citing works
Sandin, S., Lichtenstein, P., Kuja-Halkola, R., Larsson, H., Hultman, C. M., & Reichenberg, A. (2014) · JAMA · doi:10.1001/jama.2014.4144 · Cited by 1,073 · see citing works
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.018 · Cited by 969 · see citing works
Self-citationBetancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954 · see citing works
De novo mutations in human genetic disease
Veltman, J. A., & Brunner, H. G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3241 · Cited by 845 · see citing works
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Köhler, S., Doelken, S., Mungall, C. J., Bauer, S., Firth, H., Bailleul-Forestier, I., Black, G., Brown, D. L., Brudno, M., Campbell, J., et al. (2013) · Nucleic Acids Res. · doi:10.1093/nar/gkt1026 · Cited by 840 · see citing works
Richards, C. S., Bale, S., Bellissimo, D. B., Das, S., Grody, W. W., Hegde, M. R., Lyon, E., & Ward, B. E. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31816b5cae · Cited by 832 · see citing works
A Genomic Screen of Autism: Evidence for a Multilocus Etiology
Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302497 · Cited by 684 · 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
Autism spectrum disorders and autistic traits: A decade of new twin studies
Ronald, A., & Hoekstra, R. A. (2011) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31159 · Cited by 616 · see citing works
Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
Keinan, A., & Clark, A. G. (2012) · Science · doi:10.1126/science.1217283 · Cited by 548 · see citing works
Genetic architecture in autism spectrum disorder
Devlin, B., & Scherer, S. W. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.03.002 · Cited by 545 · see citing works
Self-citationJiang, Y.-H., Yuen, R. K. C., Jin, X., Wang, M., Chen, N., Wu, X., Ju, J., Mei, J., Shi, Y., He, M., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.06.012 · Cited by 474 · see citing works
Self-citationRosenhall, U., Nordin, V., Sandström, M., Ahlsén, G., & Gillberg, C. (1999) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1023022709710 · Cited by 403 · see citing works
A Mutation in the Thyroid Hormone Receptor Alpha Gene
Bochukova, E., Schoenmakers, N., Agostini, M., Schoenmakers, E., Rajanayagam, O., Keogh, J. M., Henning, E., Reinemund, J., Gevers, E., Sarri, M., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1110296 · Cited by 379 · see citing works
Individual common variants exert weak effects on the risk for autism spectrum disorders
Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds301 · Cited by 375 · see citing works
Self-citationDNA methylation signatures in development and aging of the human prefrontal cortex
Numata, S., Ye, T., Hyde, T. M., Guitart-Navarro, X., Tao, R., Wininger, M., Colantuoni, C., Weinberger, D. R., Kleinman, J. E., & Lipska, B. K. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.020 · Cited by 364 · see citing works
A Mutation in the Thyroid Hormone Receptor Alpha Gene
Bochukova, E. G., Schoenmakers, N. A., Agostini, M., Schoenmakers, E., Rajanayagam, O., Keogh, J. M., Henning, E., Reinemund, J., Gevers, E. F., Sarri, M., et al. (2012) · UCL Discovery (University College London) · Cited by 327 · see citing works
A unified genetic theory for sporadic and inherited autism
Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., Law, P., Qiu, S., Lord, C., Sebat, J., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705803104 · Cited by 319 · see citing works
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
Piton, A., Gauthier, J., Hamdan, F. F., Lafrenière, R. G., Yang, Y., Henrion, É., Laurent, S. B., Noreau, A., Thibodeau, P., Karemera, L., et al. (2010) · Molecular Psychiatry · doi:10.1038/mp.2010.54 · Cited by 312 · see citing works
Determinants of protein function revealed by combinatorial entropy optimization
Reva, B. A., Antipin, Y., & Sander, C. (2007) · Genome biology · doi:10.1186/gb-2007-8-11-r232 · Cited by 309 · see citing works
Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
Campbell, I. M., Yuan, B., Robberecht, C., Pfundt, R., Szafrański, P., McEntagart, M., Nagamani, S. C. S., Erez, A., Bartnik, M., Wiśniowiecka‐Kowalnik, B., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.07.003 · Cited by 274 · see citing works
Lim, E. T., Raychaudhuri, S., Sanders, S. J., Stevens, C., Sabo, A., MacArthur, D. G., Neale, B. M., Kirby, A., Ruderfer, D. M., Fromer, M., et al. (2013) · Neuron · doi:10.1016/j.neuron.2012.12.029 · Cited by 266 · see citing works
Bae, B.-I., Tietjen, I., Atabay, K. D., Evrony, G. D., Johnson, M. B., Asare, E., Wang, P. P., Murayama, A. Y., Im, K., Lisgo, S. N., et al. (2014) · Science · doi:10.1126/science.1244392 · Cited by 229 · see citing works
Clinical Phenotype and Mutant TRα1
van Mullem, A. A., van Heerebeek, R., Chrysis, D., Visser, W. E., Medici, M., Andrikoula, M., Tsatsoulis, A. A., Peeters, R. P., & Visser, T. J. (2012) · New England Journal of Medicine · doi:10.1056/nejmc1113940 · Cited by 221 · see citing works
The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse
Blake, J. A., Bult, C. J., Eppig, J. T., Kadin, J. A., Richardson, J. E., & The Mouse Genome Database Group (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1225 · Cited by 210 · see citing works
Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., et al. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3001267 · Cited by 193 · see citing works
Self-citationBuxbaum, J. D., Daly, M. J., Devlin, B., Lehner, T., Roeder, K., & State, M. W. (2012) · Neuron · doi:10.1016/j.neuron.2012.12.008 · Cited by 185 · see citing works
Gene and miRNA expression profiles in autism spectrum disorders
Seno, M. M. G., Hu, P., Gwadry, F. G., Pinto, D., Marshall, C. R., Casallo, G., & Scherer, S. W. (2010) · Brain Research · doi:10.1016/j.brainres.2010.09.046 · Cited by 175 · see citing works
Self-citationUddin, M., Tammimies, K., Pellecchia, G., Alipanahi, B., Hu, P., Wang, Z., Pinto, D., Lau, L., Nalpathamkalam, T., Marshall, C. R., et al. (2014) · Nature Genetics · doi:10.1038/ng.2980 · Cited by 163 · see citing works
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Kerin, T., Ramanathan, A., Rivas, K. L., Grepo, N., Coetzee, G. A., & Campbell, D. B. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003479 · Cited by 149 · see citing works
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Smith, R. J., Shearer, A. E., Hildebrand, M. S., et al. (2014) · Cited by 142 · see citing works
Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD
Constantino, J. N., Todorov, A., Hilton, C., Law, P., Zhang, Y., Molloy, E., Fitzgerald, R., & Geschwind, D. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.9 · Cited by 134 · see citing works
Moran, C., Agostini, M., Visser, W. E., Schoenmakers, E., Schoenmakers, N., Offiah, A. C., Poole, K., Rajanayagam, O., Lyons, G., Halsall, D., et al. (2014) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(14)70111-1 · Cited by 127 · see citing works
Solomon, B., Nguyen, A., Bear, K., & Wolfsberg, T. (2013) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.1302575110 · Cited by 123 · see citing works
Toma, C., Torrico, B., Hervás, A., Valdés-Mas, R., Tristán-Noguero, A., Padillo, V, Maristany, M., Salgado, M., Arenas, C., Puente, X. S., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.106 · Cited by 114 · see citing works
Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads
Carnevali, P., Baccash, J., Halpern, A., Nazarenko, I., Nilsen, G. B., Pant, K., Ebert, J. C., Brownley, A., Morenzoni, M., Karpinchyk, V., et al. (2012) · J. Comput. Biol. · doi:10.1089/cmb.2011.0201 · Cited by 95 · see citing works
Campbell, I. M., Yatsenko, S. A., Hixson, P. M., Reimschisel, T. E., Thomas, M., Wilson, W. G., Dayal, U., Wheless, J. W., Crunk, A. E., Curry, C. J., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.2012.65 · Cited by 61 · see citing works
Pang, A. W. C., MacDonald, J. R., Yuen, R. K. C., Hayes, V. M., & Scherer, S. W. (2013) · G3 Genes Genomes Genetics · doi:10.1534/g3.113.008797 · Cited by 38 · see citing works
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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
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Roberts, N. J., Norris, A. L., Petersen, G. M., Bondy, M. L., Brand, R., Gallinger, S., Kurtz, R. C., Olson, S. H., Rustgi, A. K., Schwartz, A. G., et al. (2016) · Cancer Discovery · doi:10.1158/2159-8290.cd-15-0402 · Cited by 361 · see citing works
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
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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
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Self-citationTrost, B., Walker, S., Wang, Z., Thiruvahindrapuram, B., MacDonald, J. R., Sung, W. W. L., Pereira, S. L., Whitney, J., Chan, A. J. S., Pellecchia, G., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.12.007 · Cited by 191 · see citing works
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Frye, R. E. (2020) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2020.100829 · Cited by 161 · see citing works
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Wilfert, A. B., Sulovari, A., Turner, T. N., Coe, B. P., & Eichler, E. E. (2017) · Genome Medicine · doi:10.1186/s13073-017-0498-x · Cited by 144 · see citing works
Sestan, N., & State, M. W. (2018) · Neuron · doi:10.1016/j.neuron.2018.10.015 · Cited by 127 · see citing works
Epigenetics of Autism Spectrum Disorder
Siu, M. T., & Weksberg, R. (2017) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-53889-1_4 · Cited by 121 · see citing works
Self-citationFrequency and complexity of de novo structural mutation in autism
Brandler, W. M., Antaki, D., Gujral, M., Noor, A., Rosanio, G., Chapman, T. R., Barrera, D. J., Lin, G. N., Malhotra, D., Watts, A. C., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.02.018 · Cited by 104 · see citing works
Gur, R. E., Bassett, A. S., McDonald-McGinn, D. M., Bearden, C. E., Chow, E., Emanuel, B. S., Owen, M., Swillen, A., Van den Bree, M., Vermeesch, J., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.161 · Cited by 93 · see citing works
Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings
Palmer, N., Beam, A., Agniel, D., Eran, A., Manrai, A., Spettell, C., Steinberg, G., Mandl, K., Fox, K., Nelson, S. F., et al. (2017) · JAMA Pediatrics · doi:10.1001/jamapediatrics.2017.2832 · Cited by 89 · see citing works
Gazzellone, M. J., Zarrei, M., Burton, C. L., Walker, S., Uddin, M., Shaheen, S. M., Coste, J., Rajendram, R., Schachter, R. J., Colasanto, M., et al. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9170-9 · Cited by 77 · see citing works
Self-citationWang, W., Corominas, R., & Lin, G. N. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00258 · Cited by 70 · see citing works
A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone
Espiard, S., Savagner, F., Flamant, F., Vlaeminck-Guillem, V., Guyot, R., Munier, M., d'Herbomez, M., Bourguet, W., Pinto, G., Rose, C., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-1120 · Cited by 75 · see citing works
Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypes
Uddin, M., Woodbury-Smith, M., Chan, A., Brunga, L., Lamoureux, S., Pellecchia, G., Yuen, R. K. C., Faheem, M., Stavropoulos, D. J., Drake, J., et al. (2017) · Neurology Genetics · doi:10.1212/nxg.0000000000000199 · Cited by 57 · see citing works
Self-citationInherited risk for autism through maternal and paternal lineage
Bai, D., Marrus, N., Yip, B. H. K., Reichenberg, A., Constantino, J. N., & Sandin, S. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.03.013 · Cited by 45 · see citing works
Torrico, B., Shaw, A. D., Mosca, R., Vivó-Luque, N., Hervás, A., Fernàndez-Castillo, N., Aloy, P., Bayés, M., Fullerton, J. M., Cormand, B., et al. (2019) · Journal of Psychiatry and Neuroscience · doi:10.1503/jpn.180184 · Cited by 34 · see citing works
Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders
Hoang, N., Buchanan, J. A., & Scherer, S. W. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0066-3 · Cited by 26 · see citing works
Self-citationMolecular subtyping and improved treatment of neurodevelopmental disease
Stessman, H. A. F., Turner, T. N., & Eichler, E. E. (2016) · Genome Medicine · doi:10.1186/s13073-016-0278-z · Cited by 25 · see citing works
Thyroid hormone resistance: mechanisms and therapeutic development
Yao, B., Yang, C., Pan, C., & Li, Y. (2022) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2022.111679 · Cited by 26 · see citing works
Fein, D., & Helt, M. (2017) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617717001096 · Cited by 20 · see citing works
The Genetics of Autism Spectrum Disorders
Yuen, R. K. C., Szatmari, P., & Vorstman, J. A. S. (2019) · Autism and Pervasive Developmental Disorders · doi:10.1017/9781108297769.006 · Cited by 19 · see citing works
Self-citationDSM-5 and Psychiatric Genetics — Round Hole, Meet Square Peg
Buxbaum, J. D. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.02.031 · Cited by 9 · see citing works
Quo Vadis clinical genomics of ASD?
Tammimies, K., Falck-Ytter, T., & Bölte, S. (2016) · Autism · doi:10.1177/1362361316635798 · Cited by 5 · see citing works
Self-citation
- Authors
- Yuen, R. K. C., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., Chrysler, C., Nalpathamkalam, T., Pellecchia, G., Liu, Y., Gazzellone, M. J., D'Abate, L., Deneault, E., Howe, J. L., Liu, R. S. C., Thompson, A., Zarrei, M., Uddin, M., Marshall, C. R., Ring, R. H., Zwaigenbaum, L., Ray, P. N., Weksberg, R., Carter, M. T., Fernandez, B. A., Roberts, W., Szatmari, P., & Scherer, S. W.
- Affiliations
- Hospital for Sick Children (CA)
- University of Toronto (CA)
- McMaster University (CA)
- Shandong University (CN)
- Autism Speaks (US)
- University of Alberta (CA)
- Memorial University of Newfoundland (CA)
- Corresponding author
- Scherer, Stephen W
- ORCID
- Venue
- Nature Medicine
- Published
- 2015-01-26
- Volume
- 21
- Issue
- 2
- Pages
- 185-191
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W1999204296
- Semantic Scholar
- 2b4ba8636a1a3d8fdb20ab19652d16203050230e
- Cited by
- 514
- References
- 61
- Citations by year
- 2026: 12 · 2025: 12 · 2024: 38 · 2023: 21 · 2022: 35 · 2021: 35 · 2020: 51 · 2019: 54 · 2018: 63 · 2017: 80 · 2016: 74 · 2015: 38
- FWCI
- 50.73
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Autism Speaks
- Canadian Institutes of Health Research
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- autism spectrum disorder, genetic heterogeneity, de novo mutations, structural variants, single nucleotide variants, non-coding variants, clinical heterogeneity, neurodevelopmental disorders, genetic susceptibility loci
- MeSH terms
- Adult, Child, Child Development Disorders, Pervasive, Female, Humans, Male, Parents, Sequence Analysis, DNA, Genetic Predisposition to Disease, Siblings
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