Baio J.

Wiggins L.

Christensen D.L.

Maenner M.J.

Daniels J.

Warren Z.

Kurzius-Spencer M.

Zahorodny W.

Robinson Rosenberg C.

White T.

et al. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014. MMWR Surveill Summ. 67 : 1-23 View in Article Scopus (813)

PubMed

Crossref

Google Scholar

Battle A.

Brown C.D.

Engelhardt B.E.

Montgomery S.B.

GTEx Consortium

Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group

Statistical Methods groups—Analysis Working Group

Enhancing GTEx (eGTEx) groups

NIH Common Fund

NIH/NCI

NIH/NHGRI

NIH/NIMH

NIH/NIDA

Biospecimen Collection Source Site—NDRI

Biospecimen Collection Source Site—RPCI

Biospecimen Core Resource—VARI

Brain Bank Repository—University of Miami Brain Endowment Bank

Leidos Biomedical—Project Management

ELSI Study

Genome Browser Data Integration &Visualization—EBI

Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz

Lead analysts

Laboratory, Data Analysis &Coordinating Center (LDACC)

NIH program management

Biospecimen collection

Pathology

eQTL manuscript working group Genetic effects on gene expression across human tissues. Nature. 550 : 204-213 View in Article Scopus (674)

PubMed

Crossref

Google Scholar

Birney E.

Stamatoyannopoulos J.A.

Dutta A.

Guigó R.

Gingeras T.R.

Margulies E.H.

Weng Z.

Snyder M.

Dermitzakis E.T.

Thurman R.E.

et al.

ENCODE Project Consortium

NISC Comparative Sequencing Program

Baylor College of Medicine Human Genome Sequencing Center

Washington University Genome Sequencing Center

Broad Institute

Children’s Hospital Oakland Research Institute Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 447 : 799-816 View in Article Scopus (3593)

PubMed

Crossref

Google Scholar

Chen J.

Bardes E.E.

Aronow B.J.

Jegga A.G. ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucleic Acids Res. 37 ( ) View in Article Scopus (1034)

Crossref

Google Scholar

Chen E.Y.

Tan C.M.

Kou Y.

Duan Q.

Wang Z.

Meirelles G.V.

Clark N.R.

Ma’ayan A. Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool. BMC Bioinformatics. 14 : 128 View in Article Scopus (1156)

PubMed

Crossref

Google Scholar

Chen L.

Jensik P.J.

Alaimo J.T.

Walkiewicz M.

Berger S.

Roeder E.

Faqeih E.A.

Bernstein J.A.

Smith A.C.M.

Mullegama S.V.

et al. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Hum. Mutat. 38 : 1774-1785 View in Article Scopus (7)

PubMed

Crossref

Google Scholar

Christensen D.L.

Baio J.

Van Naarden Braun K.

Bilder D.

Charles J.

Constantino J.N.

Daniels J.

Durkin M.S.

Fitzgerald R.T.

Kurzius-Spencer M.

et al.

Centers for Disease Control and Prevention (CDC) Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years--Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. MMWR Surveill. Summ. 65 : 1-23 View in Article PubMed

Crossref

Google Scholar

Coe B.P.

Witherspoon K.

Rosenfeld J.A.

van Bon B.W.

Vulto-van Silfhout A.T.

Bosco P.

Friend K.L.

Baker C.

Buono S.

Vissers L.E.

et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat. Genet. 46 : 1063-1071 View in Article Scopus (253)

PubMed

Crossref

Google Scholar

Cooper G.M.

Coe B.P.

Girirajan S.

Rosenfeld J.A.

Vu T.H.

Baker C.

Williams C.

Stalker H.

Hamid R.

Hannig V.

et al. A copy number variation morbidity map of developmental delay. Nat. Genet. 43 : 838-846 View in Article Scopus (755)

PubMed

Crossref

Google Scholar

Cotney J.

Muhle R.A.

Sanders S.J.

Liu L.

Willsey A.J.

Niu W.

Liu W.

Klei L.

Lei J.

Yin J.

et al. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat. Commun. 6 : 6404 View in Article Scopus (125)

PubMed

Crossref

Google Scholar

De Rubeis S.

He X.

Goldberg A.P.

Poultney C.S.

Samocha K.

Cicek A.E.

Kou Y.

Liu L.

Fromer M.

Walker S.

et al.

DDD Study

Homozygosity Mapping Collaborative for Autism

UK10K Consortium Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515 : 209-215 View in Article Scopus (1001)

PubMed

Crossref

Google Scholar

Demontis D.

Walters R.K.

Martin J.

Mattheisen M.

Als T.D.

Agerbo E.

Baldursson G.

Belliveau R.

Bybjerg-Grauholm J.

Bækvad-Hansen M.

et al.

ADHD Working Group of the Psychiatric Genomics Consortium (PGC)

Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium

23andMe Research Team Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nat. Genet. 51 : 63-75 View in Article Scopus (188)

PubMed

Crossref

Google Scholar

Dittwald P.

Gambin T.

Szafranski P.

Li J.

Amato S.

Divon M.Y.

Rodríguez Rojas L.X.

Elton L.E.

Scott D.A.

Schaaf C.P.

et al. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 23 : 1395-1409 View in Article Scopus (76)

PubMed

Crossref

Google Scholar

Efron B. Large-scale inference: empirical Bayes methods for estimation, testing, and prediction. Cambridge University Press , View in Article Google Scholar

Elliott C.D. Differential Ability Scales. Second Edition. Harcourt Assessment , View in Article Google Scholar

Falconer D.S. The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann. Hum. Genet. 29 : 51-76 View in Article Crossref

Google Scholar

Gandal M.J.

Haney J.R.

Parikshak N.N.

Leppa V.

Ramaswami G.

Hartl C.

Schork A.J.

Appadurai V.

Buil A.

Werge T.M.

et al.

CommonMind Consortium

PsychENCODE Consortium

iPSYCH-BROAD Working Group Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap. Science. 359 : 693-697 View in Article Scopus (216)

PubMed

Crossref

Google Scholar

Gandal M.J.

Zhang P.

Hadjimichael E.

Walker R.L.

Chen C.

Liu S.

Won H.

Van Bakel H.

Varghese M.

Wang Y.

Shieh A.W.

et al. Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder. Science. 362 : eaat8127 View in Article Scopus (79)

PubMed

Crossref

Google Scholar

Gaugler T.

Klei L.

Sanders S.J.

Bodea C.A.

Goldberg A.P.

Lee A.B.

Mahajan M.

Manaa D.

Pawitan Y.

Reichert J.

et al. Most genetic risk for autism resides with common variation. Nat. Genet. 46 : 881-885 View in Article Scopus (436)

PubMed

Crossref

Google Scholar

Gel B.

Díez-Villanueva A.

Serra E.

Buschbeck M.

Peinado M.A.

Malinverni R. regioneR: an R/Bioconductor package for the association analysis of genomic regions based on permutation tests. Bioinformatics. 32 : 289-291 View in Article PubMed

Google Scholar

Grove J.

Ripke S.

Als T.D.

Mattheisen M.

Walters R.K.

Won H.

Pallesen J.

Agerbo E.

Andreassen O.A.

Anney R.

et al.

Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium

BUPGEN

Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium

23andMe Research Team Identification of common genetic risk variants for autism spectrum disorder. Nat. Genet. 51 : 431-444 View in Article Scopus (115)

PubMed

Crossref

Google Scholar

He X.

Sanders S.J.

Liu L.

De Rubeis S.

Lim E.T.

Sutcliffe J.S.

Schellenberg G.D.

Gibbs R.A.

Daly M.J.

Buxbaum J.D.

et al. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet. 9 : e1003671 View in Article Scopus (108)

PubMed

Crossref

Google Scholar

Heyne H.O.

Singh T.

Stamberger H.

Abou Jamra R.

Caglayan H.

Craiu D.

De Jonghe P.

Guerrini R.

Helbig K.L.

Koeleman B.P.C.

et al.

EuroEPINOMICS RES Consortium De novo variants in neurodevelopmental disorders with epilepsy. Nat. Genet. 50 : 1048-1053 View in Article Scopus (45)

PubMed

Crossref

Google Scholar

Huang H.T.

Kathrein K.L.

Barton A.

Gitlin Z.

Huang Y.H.

Ward T.P.

Hofmann O.

Dibiase A.

Song A.

Tyekucheva S.

et al. A network of epigenetic regulators guides developmental haematopoiesis in vivo. Nat. Cell Biol. 15 : 1516-1525 View in Article PubMed

Crossref

Google Scholar

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. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515 : 216-221 View in Article Scopus (884)

PubMed

Crossref

Google Scholar

Jensik P.J.

Huggenvik J.I.

Collard M.W. Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1). J. Biol. Chem. 279 : 32692-32699 View in Article Scopus (0)

PubMed

Crossref

Google Scholar

Jin S.C.

Homsy J.

Zaidi S.

Lu Q.

Morton S.

DePalma S.R.

Zeng X.

Qi H.

Chang W.

Sierant M.C.

et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat. Genet. 49 : 1593-1601 View in Article Scopus (126)

PubMed

Crossref

Google Scholar

Johannesen K.M.

Gardella E.

Linnankivi T.

Courage C.

de Saint Martin A.

Lehesjoki A.-E.

Mignot C.

Afenjar A.

Lesca G.

Abi-Warde M.-T.

et al. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 59 : 389-402 View in Article Scopus (10)

PubMed

Crossref

Google Scholar

Karczewski K.J.

Francioli L.C.

Tiao G.

Cummings B.B.

Alföldi J.

Wang Q.

Collins R.L.

Laricchia K.M.

Ganna A.

Birnbaum D.P.

et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. bioRxiv. https://doi.org/10.1101/531210 View in Article Crossref

Google Scholar

Khare S.P.

Habib F.

Sharma R.

Gadewal N.

Gupta S.

Galande S. HIstome--a relational knowledgebase of human histone proteins and histone modifying enzymes. Nucleic Acids Res. 40 : D337-D342 View in Article Scopus (72)

PubMed

Crossref

Google Scholar

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. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat. Genet. 49 : 504-510 View in Article Scopus (97)

PubMed

Crossref

Google Scholar

Landrum M.J.

Lee J.M.

Riley G.R.

Jang W.

Rubinstein W.S.

Church D.M.

Maglott D.R. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 42 : D980-D985 View in Article Scopus (959)

PubMed

Crossref

Google Scholar

Lauritsen M.B.

Jørgensen M.

Madsen K.M.

Lemcke S.

Toft S.

Grove J.

Schendel D.E.

Thorsen P. Validity of childhood autism in the Danish Psychiatric Central Register: findings from a cohort sample born 1990-1999. J. Autism Dev. Disord. 40 : 139-148 View in Article Scopus (133)

PubMed

Crossref

Google Scholar

Lee J.J.

Wedow R.

Okbay A.

Kong E.

Maghzian O.

Zacher M.

Nguyen-Viet T.A.

Bowers P.

Sidorenko J.

Karlsson Linnér R.

et al.

23andMe Research Team

COGENT (Cognitive Genomics Consortium)

Social Science Genetic Association Consortium Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Nat. Genet. 50 : 1112-1121 View in Article Scopus (210)

PubMed

Crossref

Google Scholar

Lek M.

Karczewski K.J.

Minikel E.V.

Samocha K.E.

Banks E.

Fennell T.

O’Donnell-Luria A.H.

Ware J.S.

Hill A.J.

Cummings B.B.

et al.

Exome Aggregation Consortium Analysis of protein-coding genetic variation in 60,706 humans. Nature. 536 : 285-291 View in Article PubMed

Crossref

Google Scholar

Leroy C.

Landais E.

Briault S.

David A.

Tassy O.

Gruchy N.

Delobel B.

Grégoire M.J.

Leheup B.

Taine L.

et al. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients. Eur. J. Hum. Genet. 21 : 602-612 View in Article Scopus (0)

PubMed

Crossref

Google Scholar

Li T.

Wernersson R.

Hansen R.B.

Horn H.

Mercer J.

Slodkowicz G.

Workman C.T.

Rigina O.

Rapacki K.

Stærfeldt H.H.

et al. A scored human protein-protein interaction network to catalyze genomic interpretation. Nat. Methods. 14 : 61-64 View in Article PubMed

Crossref

Google Scholar

Li M.

Santpere G.

Imamura Kawasawa Y.

Evgrafov O.V.

Gulden F.O.

Pochareddy S.

Sunkin S.M.

Li Z.

Shin Y.

Zhu Y.

et al.

BrainSpan Consortium

PsychENCODE Consortium

PsychENCODE Developmental Subgroup Integrative functional genomic analysis of human brain development and neuropsychiatric risks. Science. 362 : eaat7615 View in Article Scopus (58)

PubMed

Crossref

Google Scholar

Lim E.T.

Uddin M.

De Rubeis S.

Chan Y.

Kamumbu A.S.

Zhang X.

D’Gama A.M.

Kim S.N.

Hill R.S.

Goldberg A.P.

et al.

Autism Sequencing Consortium Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat. Neurosci. 20 : 1217-1224 View in Article Scopus (59)

PubMed

Crossref

Google Scholar

Liu L.

Lei J.

Sanders S.J.

Willsey A.J.

Kou Y.

Cicek A.E.

Klei L.

Lu C.

He X.

Li M.

et al. DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Mol. Autism. 5 : 22 View in Article Scopus (67)

PubMed

Crossref

Google Scholar

Lord C.

Rutter M.

Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J. Autism Dev. Disord. 24 : 659-685 View in Article Scopus (5772)

PubMed

Crossref

Google Scholar

Maljevic S.

Vejzovic S.

Bernhard M.K.

Bertsche A.

Weise S.

Döcker M.

Lerche H.

Lemke J.R.

Merkenschlager A.

Syrbe S. Novel KCNQ3 mutation in a large family with benign familial neonatal epilepsy: A rare cause of neonatal seizures. Mol. Syndromol. 7 : 189-196 View in Article Scopus (4)

PubMed

Crossref

Google Scholar

Mi H.

Muruganujan A.

Huang X.

Ebert D.

Mills C.

Guo X.

Thomas P.D. Protocol Update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0). Nat. Protoc. 14 : 703-721 View in Article Scopus (48)

PubMed

Crossref

Google Scholar

Miceli F.

Soldovieri M.V.

Ambrosino P.

De Maria M.

Migliore M.

Migliore R.

Taglialatela M. Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. J. Neurosci. 35 : 3782-3793 View in Article Scopus (67)

PubMed

Crossref

Google Scholar

Morton N.E.

MacLean C.J. Analysis of family resemblance. 3. Complex segregation of quantitative traits. Am. J. Hum. Genet. 26 : 489-503 View in Article PubMed

Google Scholar

Mullen E.M. Mullen Scales of Early Learning Manual. American Guidance Service , View in Article Google Scholar

Neale B.M.

Kou Y.

Liu L.

Ma’ayan A.

Samocha K.E.

Sabo A.

Lin C.F.

Stevens C.

Wang L.S.

Makarov V.

et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 485 : 242-245 View in Article Scopus (1063)

PubMed

Crossref

Google Scholar

Nowakowski T.J.

Bhaduri A.

Pollen A.A.

Alvarado B.

Mostajo-Radji M.A.

Di Lullo E.

Haeussler M.

Sandoval-Espinosa C.

Liu S.J.

Velmeshev D.

et al. Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex. Science. 358 : 1318-1323 View in Article Scopus (120)

PubMed

Crossref

Google Scholar

O’Leary N.A.

Wright M.W.

Brister J.R.

Ciufo S.

Haddad D.

McVeigh R.

Rajput B.

Robbertse B.

Smith-White B.

Ako-Adjei D.

et al. Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation. Nucleic Acids Res. 44 : D733-D745 View in Article PubMed

Crossref

Google Scholar

Okbay A.

Beauchamp J.P.

Fontana M.A.

Lee J.J.

Pers T.H.

Rietveld C.A.

Turley P.

Chen G.-B.

Emilsson V.

Meddens S.F.W.

et al.

LifeLines Cohort Study Genome-wide association study identifies 74 loci associated with educational attainment. Nature. 533 : 539-542 View in Article PubMed

Crossref

Google Scholar

Pedersen C.B.

Bybjerg-Grauholm J.

Pedersen M.G.

Grove J.

Agerbo E.

Bækvad-Hansen M.

Poulsen J.B.

Hansen C.S.

McGrath J.J.

Als T.D.

et al. The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders. Mol. Psychiatry. 23 : 6-14 View in Article Scopus (54)

PubMed

Crossref

Google Scholar

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. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466 : 368-372 View in Article Scopus (1285)

PubMed

Crossref

Google Scholar

Power R.A.

Kyaga S.

Uher R.

MacCabe J.H.

Långström N.

Landen M.

McGuffin P.

Lewis C.M.

Lichtenstein P.

Svensson A.C. Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings. JAMA Psychiatry. 70 : 22-30 View in Article Scopus (151)

PubMed

Crossref

Google Scholar

Reichenberg A.

Cederlöf M.

McMillan A.

Trzaskowski M.

Kapra O.

Fruchter E.

Ginat K.

Davidson M.

Weiser M.

Larsson H.

et al. Discontinuity in the genetic and environmental causes of the intellectual disability spectrum. Proc. Natl. Acad. Sci. USA. 113 : 1098-1103 View in Article Scopus (0)

PubMed

Crossref

Google Scholar

Rietveld C.A.

Medland S.E.

Derringer J.

Yang J.

Esko T.

Martin N.W.

Westra H.J.

Shakhbazov K.

Abdellaoui A.

Agrawal A.

et al.

LifeLines Cohort Study GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science. 340 : 1467-1471 View in Article Scopus (379)

PubMed

Crossref

Google Scholar

Ripke S.

Sanders A.R.

Kendler K.S.

Levinson D.F.

Sklar P.

Holmans P.A.

Lin D.-Y.Y.

Duan J.

Ophoff R.A.

Andreassen O.A.

et al.

Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium Genome-wide association study identifies five new schizophrenia loci. Nat. Genet. 43 : 969-976 View in Article Scopus (1244)

PubMed

Crossref

Google Scholar

Ripke S.

O’Dushlaine C.

Chambert K.

Moran J.L.

Kähler A.K.

Akterin S.

Bergen S.E.

Collins A.L.

Crowley J.J.

Fromer M.

et al.

Multicenter Genetic Studies of Schizophrenia Consortium

Psychosis Endophenotypes International Consortium

Wellcome Trust Case Control Consortium 2 Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat. Genet. 45 : 1150-1159 View in Article Scopus (884)

PubMed

Crossref

Google Scholar

Ripke S.

Wray N.R.

Lewis C.M.

Hamilton S.P.

Weissman M.M.

Breen G.

Byrne E.M.

Blackwood D.H.

Boomsma D.I.

Cichon S.

et al.

Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium A mega-analysis of genome-wide association studies for major depressive disorder. Mol. Psychiatry. 18 : 497-511 View in Article Scopus (635)

PubMed

Crossref

Google Scholar

Robinson E.B.

Samocha K.E.

Kosmicki J.A.

McGrath L.

Neale B.M.

Perlis R.H.

Daly M.J. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proc. Natl. Acad. Sci. USA. 111 : 15161-15165 View in Article Scopus (59)

PubMed

Crossref

Google Scholar

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. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46 : 944-950 View in Article Scopus (425)

PubMed

Crossref

Google Scholar

Samocha K.E.

Kosmicki J.A.

Karczewski K.J.

O’Donnell-Luria A.H.

Pierce-Hoffman E.

MacArthur D.G.

Neale B.M.

Daly M.J. Regional missense constraint improves variant deleteriousness prediction. bioRxiv. https://doi.org/10.1101/148353 View in Article Crossref

Google Scholar

Sanders S.J.

Murtha M.T.

Gupta A.R.

Murdoch J.D.

Raubeson M.J.

Willsey A.J.

Ercan-Sencicek A.G.

DiLullo N.M.

Parikshak N.N.

Stein J.L.

et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 485 : 237-241 View in Article Scopus (1148)

PubMed

Crossref

Google Scholar

Satterstrom F.K.

Walters R.K.

Singh T.

Wigdor E.M.

Lescai F.

Demontis D.

Kosmicki J.A.

Grove J.

Stevens C.

Bybjerg-Grauholm J.

et al. ASD and ADHD have a similar burden of rare protein-truncating variants. bioRxiv. https://doi.org/10.1101/277707 View in Article Crossref

Google Scholar

Schaefer G.B.

Mendelsohn N.J.

Professional Practice and Guidelines Committee Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet. Med. 15 : 399-407 View in Article Scopus (180)

PubMed

Crossref

Google Scholar

Sebat J.

Lakshmi B.

Malhotra D.

Troge J.

Lese-Martin C.

Walsh T.

Yamrom B.

Yoon S.

Krasnitz A.

Kendall J.

et al. Strong association of de novo copy number mutations with autism. Science. 316 : 445-449 View in Article Scopus (1835)

PubMed

Crossref

Google Scholar

Soorya L.

Kolevzon A.

Zweifach J.

Lim T.

Dobry Y.

Schwartz L.

Frank Y.

Wang A.T.

Cai G.

Parkhomenko E.

et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol. Autism. 4 : 18 View in Article Scopus (118)

PubMed

Crossref

Google Scholar

Sugathan A.

Biagioli M.

Golzio C.

Erdin S.

Blumenthal I.

Manavalan P.

Ragavendran A.

Brand H.

Lucente D.

Miles J.

et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc. Natl. Acad. Sci. USA. 111 : E4468-E4477 View in Article Scopus (125)

PubMed

Crossref

Google Scholar

Van der Auwera G.A.

Carneiro M.O.

Hartl C.

Poplin R.

Del Angel G.

Levy-Moonshine A.

Jordan T.

Shakir K.

Roazen D.

Thibault J.

et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr. Protoc. Bioinformatics. 11 : 11.10.1-11.10.33 View in Article Google Scholar

Voineagu I.

Wang X.

Johnston P.

Lowe J.K.

Tian Y.

Horvath S.

Mill J.

Cantor R.M.

Blencowe B.J.

Geschwind D.H. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature. 474 : 380-384 View in Article Scopus (962)

PubMed

Crossref

Google Scholar

Wapner R.J.

Martin C.L.

Levy B.

Ballif B.C.

Eng C.M.

Zachary J.M.

Savage M.

Platt L.D.

Saltzman D.

Grobman W.A.

et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367 : 2175-2184 View in Article Scopus (589)

PubMed

Crossref

Google Scholar

Wechsler D. WISC III (Wechsler Intelligence Scale for Children). The Psychological Corporation , View in Article Google Scholar

Wechsler D. Wechsler Abbreviated Scale of Intelligence. The Psychological Corporation , View in Article Google Scholar

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. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat. Genet. 26 : 727-736 View in Article Scopus (38)

Crossref

Google Scholar

Wood A.R.

Esko T.

Yang J.

Vedantam S.

Pers T.H.

Gustafsson S.

Chu A.Y.

Estrada K.

Luan J.

Kutalik Z.

et al.

Electronic Medical Records and Genomics (eMEMERGEGE) Consortium

MIGen Consortium

PAGEGE Consortium

LifeLines Cohort Study Defining the role of common variation in the genomic and biological architecture of adult human height. Nat. Genet. 46 : 1173-1186 View in Article Scopus (833)

PubMed

Crossref

Google Scholar

Wray N.R.

Ripke S.

Mattheisen M.

Trzaskowski M.

Byrne E.M.

Abdellaoui A.

Adams M.J.

Agerbo E.

Air T.M.

Andlauer T.M.F.

et al.

eQTLGen

23andMe

Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nat. Genet. 50 : 668-681 View in Article Scopus (394)

PubMed

Crossref

Google Scholar

Yengo L.

Sidorenko J.

Kemper K.E.

Zheng Z.

Wood A.R.

Weedon M.N.

Frayling T.M.

Hirschhorn J.

Yang J.

Visscher P.M.

GIANT Consortium Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry. Hum. Mol. Genet. 27 : 3641-3649 View in Article Scopus (130)

PubMed

Crossref

Google Scholar