Recessive gene disruptions in autism spectrum disorder
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association and large-scale sequencing studies strongly implicate both common variants 2 – 4 and rare de novo variants 5 – 10 in ASD. Recessive mutations have also been implicated 11 – 14 but their contribution remains...
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Published in | Nature genetics Vol. 51; no. 7; pp. 1092 - 1098 |
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Main Authors | , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
Nature Publishing Group US
01.07.2019
Nature Publishing Group |
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Abstract | Autism spectrum disorder (ASD) affects up to 1 in 59 individuals
1
. Genome-wide association and large-scale sequencing studies strongly implicate both common variants
2
–
4
and rare de novo variants
5
–
10
in ASD. Recessive mutations have also been implicated
11
–
14
but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (
CA2
,
DDHD1
,
NSUN2
,
PAH
,
RARB
,
ROGDI
,
SLC1A1
,
USH2A
) as well as other genes not previously implicated in ASD including
FEV
(FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition.
Analysis of whole-exome sequencing data from 2,343 individuals with autism spectrum disorder compared to 5,852 unaffected individuals demonstrates an excess of biallelic, autosomal mutations for both loss-of-function and damaging missense variants. |
---|---|
AbstractList | Autism spectrum disorder (ASD) affects up to 1 in 59 individuals. Genome-wide association and large-scale sequencing studies strongly implicate both common variants and rare de novo variants in ASD. Recessive mutations have also been implicated but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition. Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association and large-scale sequencing studies strongly implicate both common variants 2 – 4 and rare de novo variants 5 – 10 in ASD. Recessive mutations have also been implicated 11 – 14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes ( CA2 , DDHD1 , NSUN2 , PAH , RARB , ROGDI , SLC1A1 , USH2A ) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition. Analysis of whole-exome sequencing data from 2,343 individuals with autism spectrum disorder compared to 5,852 unaffected individuals demonstrates an excess of biallelic, autosomal mutations for both loss-of-function and damaging missense variants. Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1 . Genome-wide association and large-scale sequencing studies strongly implicate both common variants 2 – 4 and rare de novo variants 5 – 10 in ASD. Recessive mutations have also been implicated 11 – 14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to ~5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes ( CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A ) as well as other genes not previously implicated in ASD including the transcription factor FEV , a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating novel biological pathways responsible for this condition. Analysis of whole exome sequencing data from 2,343 individuals with autism spectrum disorder (ASD) compared to 5,852 unaffected individuals demonstrates an excess of biallelic, autosomal mutations for both loss-of-function and damaging missense variants. Autism spectrum disorder (ASD) affects up to 1 in 59 individuals1. Genome-wide association and large-scale sequencing studies strongly implicate both common variants2-4 and rare de novo variants5-10 in ASD. Recessive mutations have also been implicated11-14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition. Autism spectrum disorder (ASD) affects up to 1 in 59 individuals . Genome-wide association and large-scale sequencing studies strongly implicate both common variants and rare de novo variants in ASD. Recessive mutations have also been implicated but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition. |
Author | Betancur, Catalina Walsh, Christopher A. Yu, Timothy W. Overman, Lynne M. Cutler, David J. Soucy, Aubrie Chiocchetti, Andreas G. Daly, Mark J. De Rubeis, Silvia Doan, Ryan N. Buxbaum, Joseph D. Freitag, Christine M. Lim, Elaine T. Goetze, Susanne |
AuthorAffiliation | 6 Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris 75005, France 15 Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 1 Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, Massachusetts, USA, 02115 3 Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 12 Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA 14 Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 13 Howard Hughes Medical Institute, Boston Children’s Hospital, Boston, Massachusetts, 20115 4 Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 5 Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA 10 |
AuthorAffiliation_xml | – name: 6 Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris 75005, France – name: 8 Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University, 60528 Frankfurt, Germany – name: 9 Human Developmental Biology Resource, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ – name: 3 Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA – name: 10 For full list of ASC members, see Supplementary Information – name: 15 Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA – name: 11 The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA – name: 14 Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA – name: 16 Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA – name: 13 Howard Hughes Medical Institute, Boston Children’s Hospital, Boston, Massachusetts, 20115 – name: 5 Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA – name: 4 Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA – name: 7 Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA – name: 2 Harvard Medical School, Boston, Massachusetts, USA, 02115 – name: 1 Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, Massachusetts, USA, 02115 – name: 12 Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA |
Author_xml | – sequence: 1 givenname: Ryan N. surname: Doan fullname: Doan, Ryan N. organization: Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School – sequence: 2 givenname: Elaine T. orcidid: 0000-0003-3651-0654 surname: Lim fullname: Lim, Elaine T. organization: Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School – sequence: 3 givenname: Silvia surname: De Rubeis fullname: De Rubeis, Silvia organization: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai – sequence: 4 givenname: Catalina orcidid: 0000-0002-3327-4804 surname: Betancur fullname: Betancur, Catalina organization: Neuroscience Paris Seine, Institut de Biologie Paris Seine, Sorbonne Université, INSERM, CNRS – sequence: 5 givenname: David J. surname: Cutler fullname: Cutler, David J. organization: Department of Human Genetics, Emory University School of Medicine – sequence: 6 givenname: Andreas G. surname: Chiocchetti fullname: Chiocchetti, Andreas G. organization: Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University – sequence: 7 givenname: Lynne M. surname: Overman fullname: Overman, Lynne M. organization: Human Developmental Biology Resource, Institute of Genetic Medicine, Newcastle University, International Centre for Life – sequence: 8 givenname: Aubrie orcidid: 0000-0001-8633-0032 surname: Soucy fullname: Soucy, Aubrie organization: Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital – sequence: 9 givenname: Susanne surname: Goetze fullname: Goetze, Susanne organization: Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital – sequence: 11 givenname: Christine M. surname: Freitag fullname: Freitag, Christine M. organization: Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Autism Research and Intervention Center of Excellence, University Hospital Frankfurt, Goethe University – sequence: 12 givenname: Mark J. orcidid: 0000-0002-0949-8752 surname: Daly fullname: Daly, Mark J. organization: Harvard Medical School, The Broad Institute of MIT and Harvard, Center for Human Genetic Research, Department of Medicine, Massachusetts General Hospital – sequence: 13 givenname: Christopher A. orcidid: 0000-0002-0156-2238 surname: Walsh fullname: Walsh, Christopher A. organization: Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, The Broad Institute of MIT and Harvard, Howard Hughes Medical Institute, Boston Children’s Hospital – sequence: 14 givenname: Joseph D. surname: Buxbaum fullname: Buxbaum, Joseph D. organization: Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, Department of Neuroscience, Icahn School of Medicine at Mount Sinai, Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai – sequence: 15 givenname: Timothy W. orcidid: 0000-0003-2988-7701 surname: Yu fullname: Yu, Timothy W. email: timothy.yu@childrens.harvard.edu organization: Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, The Broad Institute of MIT and Harvard |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31209396$$D View this record in MEDLINE/PubMed https://inserm.hal.science/inserm-03134922$$DView record in HAL |
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Cites_doi | 10.1016/j.neuron.2011.05.015 10.1016/j.neuron.2012.04.009 10.1016/S0896-6273(02)01167-4 10.1016/0026-0495(74)90108-5 10.1523/JNEUROSCI.23-06-02040.2003 10.1038/ng.3039 10.5607/en.2016.25.1.33 10.1007/s00018-013-1484-0 10.1242/dev.122820 10.1038/nn.2623 10.1523/JNEUROSCI.19-23-10348.1999 10.1016/j.ajhg.2014.02.001 10.1016/0896-6273(94)90038-8 10.1523/JNEUROSCI.21-21-08328.2001 10.1101/gr.092619.109 10.1093/nar/gkr407 10.1007/BF00291178 10.1038/ng.3863 10.1523/JNEUROSCI.4845-09.2009 10.1111/j.1469-7580.2010.01290.x 10.1371/journal.pone.0056516 10.1016/j.neuint.2010.12.012 10.1128/MCB.22.10.3358-3372.2002 10.1172/JCI44474 10.1371/journal.pgen.1001154 10.1056/NEJMoa075974 10.1038/nature19057 10.1086/521987 10.1371/journal.pgen.1002635 10.1016/S0006-3223(98)00139-5 10.1093/emboj/16.13.3822 10.1016/j.neuroscience.2015.11.010 10.1007/s00439-017-1779-6 10.1371/journal.pone.0044975 10.1126/science.1157657 10.1038/nrg3585 10.1038/ng.3529 10.1016/j.neuron.2012.12.029 10.1038/nmeth0410-248 10.1038/nature10945 10.1073/pnas.1211070110 10.1111/j.1471-4159.2006.03978.x 10.1038/nmeth0810-575 10.1016/j.neuron.2012.12.008 10.1016/j.neulet.2003.12.086 10.1093/nar/gkg509 10.1093/nar/gkq603 10.1016/j.neuron.2012.11.002 10.1016/j.cub.2016.02.009 10.1038/ng.3303 10.1111/j.2042-7158.2011.01404.x 10.1038/nature13772 10.1002/syn.20178 10.1016/j.brainres.2010.11.078 10.1242/dmm.009944 10.1002/hipo.20600 |
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Copyright | The Author(s), under exclusive licence to Springer Nature America, Inc. 2019 Copyright Nature Publishing Group Jul 2019 Distributed under a Creative Commons Attribution 4.0 International License |
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Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 PMCID: PMC6629034 AUTHOR CONTRIBUTIONS T.W.Y., R.N.D., E.T.L., and M.J.D. designed the study, with important additional contributions by C.B., D.J.C, C.A.W., and J.D.B.; R.N.D., E.T.L., and A.S. performed the data analyses; S.D.R. and S.G. performed Sanger validation; A.C. and C.F. characterized the FEV family; S.G. and T.W.Y. designed the in situ expression analyses; R.N.D. and T.W.Y. wrote the manuscript and all authors reviewed and approved the manuscript. |
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PublicationTitle | Nature genetics |
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References | Weiss (CR21) 2008; 358 Park, Littleton, Park, Lee (CR23) 2016; 25 Liu (CR41) 2010; 13 Rothstein (CR27) 1994; 13 Teijema, van Gelderen, Giesberts, Laurent de Angulo (CR25) 1974; 23 Bianchi, Bardelli, Chiu, Bussolati (CR31) 2014; 71 Bailey (CR24) 2011; 121 Gaugler (CR3) 2014; 46 Gerrelli, Lisgo, Copp, Lindsay (CR56) 2015; 142 De Rubeis (CR6) 2014; 515 Robinson, Lichtenstein, Anckarsäter, Happé, Ronald (CR20) 2013; 110 Buxbaum (CR15) 2012; 76 Lim (CR14) 2013; 77 Cheng (CR47) 2012; 7 Browning, Browning (CR55) 2007; 81 Iyo, Porter, Deneris, Austin (CR42) 2005; 57 Blaker-Lee, Gupta, McCammon, De Rienzo, Sive (CR22) 2012; 5 Cao (CR44) 2013; 8 Peghini, Janzen, Stoffel (CR35) 1997; 16 Stafford, Brown, Mishra, Stanwood, Mathews (CR32) 2010; 20 Diamond (CR30) 2001; 21 Huang, Lee, Marcotte, Hurles (CR16) 2010; 6 Schwarz, Rödelsperger, Schuelke, Seelow (CR52) 2010; 7 Stenson (CR49) 2017; 136 Adzhubei (CR51) 2010; 7 Weiner (CR4) 2017; 49 Muller, Anacker, Veenstra-VanderWeele (CR38) 2016; 321 Reva, Antipin, Sander (CR53) 2011; 39 Chun, Fay (CR54) 2009; 19 Sanders (CR8) 2012; 485 Mathews, Diamond (CR33) 2003; 23 Yu (CR13) 2013; 77 Iossifov (CR9) 2012; 74 Hendricks, Francis, Fyodorov, Deneris (CR39) 1999; 19 Hendricks (CR40) 2003; 37 Kerwin (CR57) 2010; 217 Wang, Li, Hakonarson (CR48) 2010; 38 Poon, Mitchell, Kondo, Cheng, Harvey (CR46) 2016; 26 Shao, Halachmi, Brown (CR45) 2002; 22 Baio (CR1) 2014; 63 Chahrour (CR12) 2012; 8 Maurer (CR43) 2004; 357 Betancur (CR18) 2011; 1380 Ronemus, Iossifov, Levy, Wigler (CR10) 2014; 15 Ross, Porter, Buckley, Eberwine, Robinson (CR28) 2011; 58 Ng, Henikoff (CR50) 2003; 31 Morrow (CR11) 2008; 321 Swarna, Rao, Reddy (CR26) 1989; 82 Lucki (CR37) 1998; 44 Robinson (CR2) 2016; 48 Lek (CR17) 2016; 536 Krumm (CR5) 2015; 47 Jacquemont (CR19) 2014; 94 Lee, Park, Zuo (CR36) 2012; 64 Levy (CR7) 2011; 70 Scimemi, Tian, Diamond (CR34) 2009; 29 Nieoullon (CR29) 2006; 98 MG Bianchi (433_CR31) 2014; 71 JS Diamond (433_CR30) 2001; 21 MH Chahrour (433_CR12) 2012; 8 T Gaugler (433_CR3) 2014; 46 T Hendricks (433_CR39) 1999; 19 CL Muller (433_CR38) 2016; 321 SJ Sanders (433_CR8) 2012; 485 J Baio (433_CR1) 2014; 63 YZ Cheng (433_CR47) 2012; 7 B Reva (433_CR53) 2011; 39 TW Yu (433_CR13) 2013; 77 M Swarna (433_CR26) 1989; 82 PD Stenson (433_CR49) 2017; 136 A Nieoullon (433_CR29) 2006; 98 A Scimemi (433_CR34) 2009; 29 C Liu (433_CR41) 2010; 13 EB Robinson (433_CR2) 2016; 48 IA Adzhubei (433_CR51) 2010; 7 TJ Hendricks (433_CR40) 2003; 37 DJ Weiner (433_CR4) 2017; 49 EM Morrow (433_CR11) 2008; 321 GC Mathews (433_CR33) 2003; 23 JM Schwarz (433_CR52) 2010; 7 S De Rubeis (433_CR6) 2014; 515 AH Iyo (433_CR42) 2005; 57 SR Browning (433_CR55) 2007; 81 JD Rothstein (433_CR27) 1994; 13 S Jacquemont (433_CR19) 2014; 94 H Cao (433_CR44) 2013; 8 JD Buxbaum (433_CR15) 2012; 76 CG Bailey (433_CR24) 2011; 121 I Lucki (433_CR37) 1998; 44 M Ronemus (433_CR10) 2014; 15 D Gerrelli (433_CR56) 2015; 142 C Betancur (433_CR18) 2011; 1380 A Blaker-Lee (433_CR22) 2012; 5 MM Stafford (433_CR32) 2010; 20 M Lek (433_CR17) 2016; 536 ET Lim (433_CR14) 2013; 77 HL Teijema (433_CR25) 1974; 23 CLC Poon (433_CR46) 2016; 26 N Krumm (433_CR5) 2015; 47 J Kerwin (433_CR57) 2010; 217 P Maurer (433_CR43) 2004; 357 I Iossifov (433_CR9) 2012; 74 P Peghini (433_CR35) 1997; 16 SM Park (433_CR23) 2016; 25 S Chun (433_CR54) 2009; 19 EB Robinson (433_CR20) 2013; 110 S Lee (433_CR36) 2012; 64 W Shao (433_CR45) 2002; 22 K Wang (433_CR48) 2010; 38 D Levy (433_CR7) 2011; 70 JR Ross (433_CR28) 2011; 58 PC Ng (433_CR50) 2003; 31 LA Weiss (433_CR21) 2008; 358 N Huang (433_CR16) 2010; 6 |
References_xml | – volume: 63 start-page: 1 year: 2014 end-page: 22 ident: CR1 article-title: Prevalence of autism spectrum disorder among children aged 8 years. Autism and developmental disabilities monitoring network, 11 sites, United States, 2014. publication-title: MMWR Surveill. Summ. contributor: fullname: Baio – volume: 70 start-page: 886 year: 2011 end-page: 897 ident: CR7 article-title: Rare de novo and transmitted copy-number variation in autistic spectrum disorders. publication-title: Neuron doi: 10.1016/j.neuron.2011.05.015 contributor: fullname: Levy – volume: 74 start-page: 285 year: 2012 end-page: 299 ident: CR9 article-title: De novo gene disruptions in children on the autistic spectrum. publication-title: Neuron doi: 10.1016/j.neuron.2012.04.009 contributor: fullname: Iossifov – volume: 37 start-page: 233 year: 2003 end-page: 247 ident: CR40 article-title: ETS gene plays a critical role in 5-HT neuron development and is required for normal anxiety-like and aggressive behavior publication-title: Neuron doi: 10.1016/S0896-6273(02)01167-4 contributor: fullname: Hendricks – volume: 23 start-page: 115 year: 1974 end-page: 123 ident: CR25 article-title: Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia publication-title: Metab. Clin. Exp. doi: 10.1016/0026-0495(74)90108-5 contributor: fullname: Laurent de Angulo – volume: 23 start-page: 2040 year: 2003 end-page: 2048 ident: CR33 article-title: Neuronal glutamate uptake contributes to GABA synthesis and inhibitory synaptic strength publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.23-06-02040.2003 contributor: fullname: Diamond – volume: 46 start-page: 881 year: 2014 end-page: 885 ident: CR3 article-title: Most genetic risk for autism resides with common variation publication-title: Nat. Genet. doi: 10.1038/ng.3039 contributor: fullname: Gaugler – volume: 25 start-page: 33 year: 2016 end-page: 39 ident: CR23 article-title: homolog of human KIF22 at the autism-linked 16p11.2 loci influences synaptic connectivity at larval neuromuscular junctions publication-title: Exp. Neurobiol. doi: 10.5607/en.2016.25.1.33 contributor: fullname: Lee – volume: 71 start-page: 2001 year: 2014 end-page: 2015 ident: CR31 article-title: Changes in the expression of the glutamate transporter EAAT3/EAAC1 in health and disease publication-title: Cell. Mol. Life Sci. doi: 10.1007/s00018-013-1484-0 contributor: fullname: Bussolati – volume: 142 start-page: 3073 year: 2015 end-page: 3076 ident: CR56 article-title: Enabling research with human embryonic and fetal tissue resources publication-title: Development doi: 10.1242/dev.122820 contributor: fullname: Lindsay – volume: 13 start-page: 1190 year: 2010 end-page: 1198 ident: CR41 article-title: is required across different stages of life to regulate serotonergic function publication-title: Nat. Neurosci. doi: 10.1038/nn.2623 contributor: fullname: Liu – volume: 19 start-page: 10348 year: 1999 end-page: 10356 ident: CR39 article-title: The ETS domain factor Pet-1 is an early and precise marker of central serotonin neurons and interacts with a conserved element in serotonergic genes publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.19-23-10348.1999 contributor: fullname: Deneris – volume: 94 start-page: 415 year: 2014 end-page: 425 ident: CR19 article-title: A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2014.02.001 contributor: fullname: Jacquemont – volume: 13 start-page: 713 year: 1994 end-page: 725 ident: CR27 article-title: Localization of neuronal and glial glutamate transporters. publication-title: Neuron doi: 10.1016/0896-6273(94)90038-8 contributor: fullname: Rothstein – volume: 21 start-page: 8328 year: 2001 end-page: 8338 ident: CR30 article-title: Neuronal glutamate transporters limit activation of NMDA receptors by neurotransmitter spillover on CA1 pyramidal cells publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.21-21-08328.2001 contributor: fullname: Diamond – volume: 19 start-page: 1553 year: 2009 end-page: 1561 ident: CR54 article-title: Identification of deleterious mutations within three human genomes publication-title: Genome Res. doi: 10.1101/gr.092619.109 contributor: fullname: Fay – volume: 39 start-page: e118 year: 2011 ident: CR53 article-title: Predicting the functional impact of protein mutations: application to cancer genomics publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkr407 contributor: fullname: Sander – volume: 82 start-page: 299 year: 1989 end-page: 300 ident: CR26 article-title: Dicarboxylic aminoaciduria associated with mental retardation publication-title: Hum. Genet. doi: 10.1007/BF00291178 contributor: fullname: Reddy – volume: 20 start-page: 134 year: 2010 end-page: 144 ident: CR32 article-title: Glutamate spillover augments GABA synthesis and release from axodendritic synapses in rat hippocampus publication-title: Hippocampus contributor: fullname: Mathews – volume: 49 start-page: 978 year: 2017 end-page: 985 ident: CR4 article-title: Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders publication-title: Nat. Genet. doi: 10.1038/ng.3863 contributor: fullname: Weiner – volume: 29 start-page: 14581 year: 2009 end-page: 14595 ident: CR34 article-title: Neuronal transporters regulate glutamate clearance, NMDA receptor activation, and synaptic plasticity in the hippocampus publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.4845-09.2009 contributor: fullname: Diamond – volume: 217 start-page: 289 year: 2010 end-page: 299 ident: CR57 article-title: The HUDSEN Atlas: a three-dimensional (3D) spatial framework for studying gene expression in the developing human brain publication-title: J. Anat. doi: 10.1111/j.1469-7580.2010.01290.x contributor: fullname: Kerwin – volume: 8 start-page: e56516 year: 2013 ident: CR44 article-title: FCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro publication-title: PLoS ONE doi: 10.1371/journal.pone.0056516 contributor: fullname: Cao – volume: 58 start-page: 366 year: 2011 end-page: 375 ident: CR28 article-title: mRNA for the EAAC1 subtype of glutamate transporter is present in neuronal dendrites in vitro and dramatically increases in vivo after a seizure publication-title: Neurochem. Int. doi: 10.1016/j.neuint.2010.12.012 contributor: fullname: Robinson – volume: 22 start-page: 3358 year: 2002 end-page: 3372 ident: CR45 article-title: ERAP140, a conserved tissue-specific nuclear receptor coactivator publication-title: Mol. Cell. Biol. doi: 10.1128/MCB.22.10.3358-3372.2002 contributor: fullname: Brown – volume: 121 start-page: 446 year: 2011 end-page: 453 ident: CR24 article-title: Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria publication-title: J. Clin. Invest. doi: 10.1172/JCI44474 contributor: fullname: Bailey – volume: 6 start-page: e1001154 year: 2010 ident: CR16 article-title: Characterising and predicting haploinsufficiency in the human genome publication-title: PLoS Genet. doi: 10.1371/journal.pgen.1001154 contributor: fullname: Hurles – volume: 358 start-page: 667 year: 2008 end-page: 675 ident: CR21 article-title: Association between microdeletion and microduplication at 16p11.2 and autism. publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa075974 contributor: fullname: Weiss – volume: 536 start-page: 285 year: 2016 end-page: 291 ident: CR17 article-title: Analysis of protein-coding genetic variation in 60,706 humans publication-title: Nature doi: 10.1038/nature19057 contributor: fullname: Lek – volume: 81 start-page: 1084 year: 2007 end-page: 1097 ident: CR55 article-title: Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering publication-title: Am. J. Hum. Genet. doi: 10.1086/521987 contributor: fullname: Browning – volume: 8 start-page: e1002635 year: 2012 ident: CR12 article-title: Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism publication-title: PLoS Genet. doi: 10.1371/journal.pgen.1002635 contributor: fullname: Chahrour – volume: 44 start-page: 151 year: 1998 end-page: 162 ident: CR37 article-title: The spectrum of behaviors influenced by serotonin publication-title: Biol. Psychiatry doi: 10.1016/S0006-3223(98)00139-5 contributor: fullname: Lucki – volume: 16 start-page: 3822 year: 1997 end-page: 3832 ident: CR35 article-title: Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration publication-title: EMBO J. doi: 10.1093/emboj/16.13.3822 contributor: fullname: Stoffel – volume: 321 start-page: 24 year: 2016 end-page: 41 ident: CR38 article-title: The serotonin system in autism spectrum disorder: from biomarker to animal models publication-title: Neuroscience doi: 10.1016/j.neuroscience.2015.11.010 contributor: fullname: Veenstra-VanderWeele – volume: 136 start-page: 665 year: 2017 end-page: 677 ident: CR49 article-title: The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies publication-title: Hum. Genet. doi: 10.1007/s00439-017-1779-6 contributor: fullname: Stenson – volume: 7 start-page: e44975 year: 2012 ident: CR47 article-title: Investigating embryonic expression patterns and evolution of and genes, implicated in Joubert syndrome publication-title: PLoS ONE doi: 10.1371/journal.pone.0044975 contributor: fullname: Cheng – volume: 321 start-page: 218 year: 2008 end-page: 223 ident: CR11 article-title: Identifying autism loci and genes by tracing recent shared ancestry publication-title: Science doi: 10.1126/science.1157657 contributor: fullname: Morrow – volume: 15 start-page: 133 year: 2014 end-page: 141 ident: CR10 article-title: The role of de novo mutations in the genetics of autism spectrum disorders publication-title: Nat. Rev. Genet. doi: 10.1038/nrg3585 contributor: fullname: Wigler – volume: 48 start-page: 552 year: 2016 end-page: 555 ident: CR2 article-title: Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population publication-title: Nat. Genet. doi: 10.1038/ng.3529 contributor: fullname: Robinson – volume: 77 start-page: 235 year: 2013 end-page: 242 ident: CR14 article-title: Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. publication-title: Neuron doi: 10.1016/j.neuron.2012.12.029 contributor: fullname: Lim – volume: 7 start-page: 248 year: 2010 end-page: 249 ident: CR51 article-title: A method and server for predicting damaging missense mutations publication-title: Nat. Methods doi: 10.1038/nmeth0410-248 contributor: fullname: Adzhubei – volume: 485 start-page: 237 year: 2012 end-page: 241 ident: CR8 article-title: De novo mutations revealed by whole-exome sequencing are strongly associated with autism publication-title: Nature doi: 10.1038/nature10945 contributor: fullname: Sanders – volume: 110 start-page: 5258 year: 2013 end-page: 5262 ident: CR20 article-title: Examining and interpreting the female protective effect against autistic behavior publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.1211070110 contributor: fullname: Ronald – volume: 98 start-page: 1007 year: 2006 end-page: 1018 ident: CR29 article-title: The neuronal excitatory amino acid transporter EAAC1/EAAT3: does it represent a major actor at the brain excitatory synapse? publication-title: J. Neurochem. doi: 10.1111/j.1471-4159.2006.03978.x contributor: fullname: Nieoullon – volume: 7 start-page: 575 year: 2010 end-page: 576 ident: CR52 article-title: MutationTaster evaluates disease-causing potential of sequence alterations publication-title: Nat. Methods doi: 10.1038/nmeth0810-575 contributor: fullname: Seelow – volume: 76 start-page: 1052 year: 2012 end-page: 1056 ident: CR15 article-title: The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. publication-title: Neuron doi: 10.1016/j.neuron.2012.12.008 contributor: fullname: Buxbaum – volume: 357 start-page: 215 year: 2004 end-page: 218 ident: CR43 article-title: The Ets transcription factor Fev is specifically expressed in the human central serotonergic neurons publication-title: Neurosci. Lett. doi: 10.1016/j.neulet.2003.12.086 contributor: fullname: Maurer – volume: 31 start-page: 3812 year: 2003 end-page: 3814 ident: CR50 article-title: SIFT: predicting amino acid changes that affect protein function publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkg509 contributor: fullname: Henikoff – volume: 38 start-page: e164 year: 2010 ident: CR48 article-title: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkq603 contributor: fullname: Hakonarson – volume: 77 start-page: 259 year: 2013 end-page: 273 ident: CR13 article-title: Using whole-exome sequencing to identify inherited causes of autism. publication-title: Neuron doi: 10.1016/j.neuron.2012.11.002 contributor: fullname: Yu – volume: 26 start-page: 1034 year: 2016 end-page: 1042 ident: CR46 article-title: The Hippo pathway regulates neuroblasts and brain size in publication-title: Curr. Biol. doi: 10.1016/j.cub.2016.02.009 contributor: fullname: Harvey – volume: 47 start-page: 582 year: 2015 end-page: 588 ident: CR5 article-title: Excess of rare, inherited truncating mutations in autism publication-title: Nat. Genet. doi: 10.1038/ng.3303 contributor: fullname: Krumm – volume: 64 start-page: 302 year: 2012 end-page: 307 ident: CR36 article-title: Effects of isoflurane on learning and memory functions of wild-type and glutamate transporter type 3 knockout mice publication-title: J. Pharm. Pharmacol. doi: 10.1111/j.2042-7158.2011.01404.x contributor: fullname: Zuo – volume: 515 start-page: 209 year: 2014 end-page: 215 ident: CR6 article-title: Synaptic, transcriptional and chromatin genes disrupted in autism publication-title: Nature doi: 10.1038/nature13772 contributor: fullname: De Rubeis – volume: 57 start-page: 223 year: 2005 end-page: 228 ident: CR42 article-title: Regional distribution and cellular localization of the ETS-domain transcription factor, FEV, mRNA in the human postmortem brain publication-title: Synapse doi: 10.1002/syn.20178 contributor: fullname: Austin – volume: 1380 start-page: 42 year: 2011 end-page: 77 ident: CR18 article-title: Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting publication-title: Brain Res. doi: 10.1016/j.brainres.2010.11.078 contributor: fullname: Betancur – volume: 5 start-page: 834 year: 2012 end-page: 851 ident: CR22 article-title: Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes publication-title: Dis. Model. Mech. doi: 10.1242/dmm.009944 contributor: fullname: Sive – volume: 515 start-page: 209 year: 2014 ident: 433_CR6 publication-title: Nature doi: 10.1038/nature13772 contributor: fullname: S De Rubeis – volume: 44 start-page: 151 year: 1998 ident: 433_CR37 publication-title: Biol. Psychiatry doi: 10.1016/S0006-3223(98)00139-5 contributor: fullname: I Lucki – volume: 16 start-page: 3822 year: 1997 ident: 433_CR35 publication-title: EMBO J. doi: 10.1093/emboj/16.13.3822 contributor: fullname: P Peghini – volume: 136 start-page: 665 year: 2017 ident: 433_CR49 publication-title: Hum. Genet. doi: 10.1007/s00439-017-1779-6 contributor: fullname: PD Stenson – volume: 217 start-page: 289 year: 2010 ident: 433_CR57 publication-title: J. Anat. doi: 10.1111/j.1469-7580.2010.01290.x contributor: fullname: J Kerwin – volume: 49 start-page: 978 year: 2017 ident: 433_CR4 publication-title: Nat. Genet. doi: 10.1038/ng.3863 contributor: fullname: DJ Weiner – volume: 81 start-page: 1084 year: 2007 ident: 433_CR55 publication-title: Am. J. Hum. Genet. doi: 10.1086/521987 contributor: fullname: SR Browning – volume: 21 start-page: 8328 year: 2001 ident: 433_CR30 publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.21-21-08328.2001 contributor: fullname: JS Diamond – volume: 23 start-page: 2040 year: 2003 ident: 433_CR33 publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.23-06-02040.2003 contributor: fullname: GC Mathews – volume: 46 start-page: 881 year: 2014 ident: 433_CR3 publication-title: Nat. Genet. doi: 10.1038/ng.3039 contributor: fullname: T Gaugler – volume: 22 start-page: 3358 year: 2002 ident: 433_CR45 publication-title: Mol. Cell. Biol. doi: 10.1128/MCB.22.10.3358-3372.2002 contributor: fullname: W Shao – volume: 6 start-page: e1001154 year: 2010 ident: 433_CR16 publication-title: PLoS Genet. doi: 10.1371/journal.pgen.1001154 contributor: fullname: N Huang – volume: 47 start-page: 582 year: 2015 ident: 433_CR5 publication-title: Nat. Genet. doi: 10.1038/ng.3303 contributor: fullname: N Krumm – volume: 142 start-page: 3073 year: 2015 ident: 433_CR56 publication-title: Development doi: 10.1242/dev.122820 contributor: fullname: D Gerrelli – volume: 94 start-page: 415 year: 2014 ident: 433_CR19 publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2014.02.001 contributor: fullname: S Jacquemont – volume: 82 start-page: 299 year: 1989 ident: 433_CR26 publication-title: Hum. Genet. doi: 10.1007/BF00291178 contributor: fullname: M Swarna – volume: 13 start-page: 1190 year: 2010 ident: 433_CR41 publication-title: Nat. Neurosci. doi: 10.1038/nn.2623 contributor: fullname: C Liu – volume: 76 start-page: 1052 year: 2012 ident: 433_CR15 publication-title: Neuron doi: 10.1016/j.neuron.2012.12.008 contributor: fullname: JD Buxbaum – volume: 7 start-page: 575 year: 2010 ident: 433_CR52 publication-title: Nat. Methods doi: 10.1038/nmeth0810-575 contributor: fullname: JM Schwarz – volume: 5 start-page: 834 year: 2012 ident: 433_CR22 publication-title: Dis. Model. Mech. doi: 10.1242/dmm.009944 contributor: fullname: A Blaker-Lee – volume: 20 start-page: 134 year: 2010 ident: 433_CR32 publication-title: Hippocampus doi: 10.1002/hipo.20600 contributor: fullname: MM Stafford – volume: 77 start-page: 235 year: 2013 ident: 433_CR14 publication-title: Neuron doi: 10.1016/j.neuron.2012.12.029 contributor: fullname: ET Lim – volume: 57 start-page: 223 year: 2005 ident: 433_CR42 publication-title: Synapse doi: 10.1002/syn.20178 contributor: fullname: AH Iyo – volume: 63 start-page: 1 year: 2014 ident: 433_CR1 publication-title: MMWR Surveill. Summ. contributor: fullname: J Baio – volume: 70 start-page: 886 year: 2011 ident: 433_CR7 publication-title: Neuron doi: 10.1016/j.neuron.2011.05.015 contributor: fullname: D Levy – volume: 7 start-page: 248 year: 2010 ident: 433_CR51 publication-title: Nat. Methods doi: 10.1038/nmeth0410-248 contributor: fullname: IA Adzhubei – volume: 58 start-page: 366 year: 2011 ident: 433_CR28 publication-title: Neurochem. Int. doi: 10.1016/j.neuint.2010.12.012 contributor: fullname: JR Ross – volume: 358 start-page: 667 year: 2008 ident: 433_CR21 publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa075974 contributor: fullname: LA Weiss – volume: 39 start-page: e118 year: 2011 ident: 433_CR53 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkr407 contributor: fullname: B Reva – volume: 77 start-page: 259 year: 2013 ident: 433_CR13 publication-title: Neuron doi: 10.1016/j.neuron.2012.11.002 contributor: fullname: TW Yu – volume: 48 start-page: 552 year: 2016 ident: 433_CR2 publication-title: Nat. Genet. doi: 10.1038/ng.3529 contributor: fullname: EB Robinson – volume: 64 start-page: 302 year: 2012 ident: 433_CR36 publication-title: J. Pharm. Pharmacol. doi: 10.1111/j.2042-7158.2011.01404.x contributor: fullname: S Lee – volume: 7 start-page: e44975 year: 2012 ident: 433_CR47 publication-title: PLoS ONE doi: 10.1371/journal.pone.0044975 contributor: fullname: YZ Cheng – volume: 29 start-page: 14581 year: 2009 ident: 433_CR34 publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.4845-09.2009 contributor: fullname: A Scimemi – volume: 19 start-page: 10348 year: 1999 ident: 433_CR39 publication-title: J. Neurosci. doi: 10.1523/JNEUROSCI.19-23-10348.1999 contributor: fullname: T Hendricks – volume: 26 start-page: 1034 year: 2016 ident: 433_CR46 publication-title: Curr. Biol. doi: 10.1016/j.cub.2016.02.009 contributor: fullname: CLC Poon – volume: 31 start-page: 3812 year: 2003 ident: 433_CR50 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkg509 contributor: fullname: PC Ng – volume: 8 start-page: e56516 year: 2013 ident: 433_CR44 publication-title: PLoS ONE doi: 10.1371/journal.pone.0056516 contributor: fullname: H Cao – volume: 98 start-page: 1007 year: 2006 ident: 433_CR29 publication-title: J. Neurochem. doi: 10.1111/j.1471-4159.2006.03978.x contributor: fullname: A Nieoullon – volume: 485 start-page: 237 year: 2012 ident: 433_CR8 publication-title: Nature doi: 10.1038/nature10945 contributor: fullname: SJ Sanders – volume: 121 start-page: 446 year: 2011 ident: 433_CR24 publication-title: J. Clin. Invest. doi: 10.1172/JCI44474 contributor: fullname: CG Bailey – volume: 74 start-page: 285 year: 2012 ident: 433_CR9 publication-title: Neuron doi: 10.1016/j.neuron.2012.04.009 contributor: fullname: I Iossifov – volume: 321 start-page: 218 year: 2008 ident: 433_CR11 publication-title: Science doi: 10.1126/science.1157657 contributor: fullname: EM Morrow – volume: 25 start-page: 33 year: 2016 ident: 433_CR23 publication-title: Exp. Neurobiol. doi: 10.5607/en.2016.25.1.33 contributor: fullname: SM Park – volume: 15 start-page: 133 year: 2014 ident: 433_CR10 publication-title: Nat. Rev. Genet. doi: 10.1038/nrg3585 contributor: fullname: M Ronemus – volume: 1380 start-page: 42 year: 2011 ident: 433_CR18 publication-title: Brain Res. doi: 10.1016/j.brainres.2010.11.078 contributor: fullname: C Betancur – volume: 110 start-page: 5258 year: 2013 ident: 433_CR20 publication-title: Proc. Natl Acad. Sci. USA doi: 10.1073/pnas.1211070110 contributor: fullname: EB Robinson – volume: 13 start-page: 713 year: 1994 ident: 433_CR27 publication-title: Neuron doi: 10.1016/0896-6273(94)90038-8 contributor: fullname: JD Rothstein – volume: 38 start-page: e164 year: 2010 ident: 433_CR48 publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkq603 contributor: fullname: K Wang – volume: 536 start-page: 285 year: 2016 ident: 433_CR17 publication-title: Nature doi: 10.1038/nature19057 contributor: fullname: M Lek – volume: 23 start-page: 115 year: 1974 ident: 433_CR25 publication-title: Metab. Clin. Exp. doi: 10.1016/0026-0495(74)90108-5 contributor: fullname: HL Teijema – volume: 19 start-page: 1553 year: 2009 ident: 433_CR54 publication-title: Genome Res. doi: 10.1101/gr.092619.109 contributor: fullname: S Chun – volume: 71 start-page: 2001 year: 2014 ident: 433_CR31 publication-title: Cell. Mol. Life Sci. doi: 10.1007/s00018-013-1484-0 contributor: fullname: MG Bianchi – volume: 37 start-page: 233 year: 2003 ident: 433_CR40 publication-title: Neuron doi: 10.1016/S0896-6273(02)01167-4 contributor: fullname: TJ Hendricks – volume: 357 start-page: 215 year: 2004 ident: 433_CR43 publication-title: Neurosci. Lett. doi: 10.1016/j.neulet.2003.12.086 contributor: fullname: P Maurer – volume: 8 start-page: e1002635 year: 2012 ident: 433_CR12 publication-title: PLoS Genet. doi: 10.1371/journal.pgen.1002635 contributor: fullname: MH Chahrour – volume: 321 start-page: 24 year: 2016 ident: 433_CR38 publication-title: Neuroscience doi: 10.1016/j.neuroscience.2015.11.010 contributor: fullname: CL Muller |
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Snippet | Autism spectrum disorder (ASD) affects up to 1 in 59 individuals
1
. Genome-wide association and large-scale sequencing studies strongly implicate both common... Autism spectrum disorder (ASD) affects up to 1 in 59 individuals . Genome-wide association and large-scale sequencing studies strongly implicate both common... Autism spectrum disorder (ASD) affects up to 1 in 59 individuals. Genome-wide association and large-scale sequencing studies strongly implicate both common... Autism spectrum disorder (ASD) affects up to 1 in 59 individuals1. Genome-wide association and large-scale sequencing studies strongly implicate both common... |
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SubjectTerms | 45 45/23 631/208/2489 631/208/366/1373 Agriculture Allelic Imbalance Animal Genetics and Genomics Autism Autism Spectrum Disorder Autism Spectrum Disorder - genetics Biomedical and Life Sciences Biomedicine Brain research Cancer Research Case-Control Studies Circuits Cohort Studies Disruption ETS protein Exome Sequencing Female Females Gene expression Gene Function Gene sequencing Genes Genes, Recessive Genes, Recessive - genetics Genetic Predisposition to Disease Genome, Human Genomes Genomics Haplotypes Human Genetics Humans Letter Life Sciences Male Missense mutation Mutation Mutation, Missense Transcription factors USH2A protein Whole Exome Sequencing |
Title | Recessive gene disruptions in autism spectrum disorder |
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