Patterns and rates of exonic de novo mutations in autism spectrum disorders

Nature
Benjamin M NealeMark J Daly

Abstract

Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of individuals can specific causes be identified. To identify further genetic risk factors, here we assess the role of de novo mutations in ASD by sequencing the exomes of ASD cases and their parents (n = 175 trios). Fewer than half of the cases (46.3%) carry a missense or nonsense de novo variant, and the overall rate of mutation is only modestly higher than the expected rate. In contrast, the proteins encoded by genes that harboured de novo missense or nonsense mutations showed a higher degree of connectivity among themselves and to previous ASD genes as indexed by protein-protein interaction screens. The small increase in the rate of de novo events, when taken together with the protein interaction results, are consistent with an important but limited role for de novo point mutations in ASD, similar to that documented for de novo copy number variants. Genetic models incorporating these data indicate that most of the observed de novo events are unconnected to ASD; those that do confer risk are distributed across many genes and are incompletely penetrant (that is, not necessarily sufficient for disease). Our res...Continue Reading

References

Mar 27, 2001·Nature Reviews. Genetics·J F Crow
Mar 16, 2007·American Journal of Human Genetics·Gregory V KryukovShamil Sunyaev
Dec 24, 2008·Proceedings of the National Academy of Sciences of the United States of America·Kasper LageSøren Brunak
Jan 19, 2010·Bioinformatics·Heng Li, Richard Durbin
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil Sunyaev
Aug 6, 2010·The American Journal of Psychiatry·Paul LichtensteinHenrik Anckarsäter
Mar 17, 2011·PLoS Genetics·Benjamin M NealeMark J Daly
Jun 15, 2011·Nature Genetics·Donald Conrad1000 Genomes Project
Jul 6, 2011·Archives of General Psychiatry·Joachim HallmayerNeil Risch
Jul 9, 2011·American Journal of Human Genetics·Michael C WuXihong Lin

Citations

Nov 2, 2013·Trends in Genetics : TIG·Luciana Musante, H Hilger Ropers
Mar 14, 2013·EMBO Molecular Medicine·Anamaria SudarovMargaret Elizabeth Ross
Jul 19, 2013·Cellular and Molecular Life Sciences : CMLS·Chaehyun YookJinhyun Kim
Mar 19, 2013·Human Genetics·Liam R Brunham, Michael R Hayden
Dec 21, 2013·Journal of Neural Transmission·Izabela SokolowskaAlisa G Woods
Feb 26, 2013·Current Psychiatry Reports·Matthew Ezewudo, Michael E Zwick
Dec 3, 2013·Biochimica Et Biophysica Acta·David C BerstenMurray L Whitelaw
Jan 18, 2014·Neuropharmacology·Tjitske KleefstraHans van Bokhoven
Jan 23, 2014·Reproductive Biomedicine Online·Piraye Yurttas BeimTina T Hu-Seliger
May 21, 2013·Trends in Genetics : TIG·Catarina D Campbell, Evan E Eichler
Jan 7, 2014·Trends in Neurosciences·Niklas KrummEvan E Eichler
Oct 1, 2013·Lancet·Meng-Chuan LaiSimon Baron-Cohen
Oct 1, 2013·Genetics Research·Mingbang WangJinyu Wu
Aug 6, 2013·Asian Journal of Andrology·Jason R KovacLarry I Lipshultz
Feb 7, 2013·European Journal of Human Genetics : EJHG·Iuliana Ionita-LazaXihong Lin
May 2, 2013·European Journal of Human Genetics : EJHG·Caroline NavaChristel Depienne
Jan 18, 2013·Journal of Human Genetics·L ZuoX Luo
Sep 24, 2013·Molecular Psychiatry·Patrick F Sullivan
Aug 24, 2012·Nature·Augustine KongKari Stefansson
Jan 18, 2013·Nature·Daniel H Ebert, Michael E Greenberg
May 15, 2013·Nature·Samir ZaidiRichard P Lifton
Nov 30, 2012·Nature Genetics
Oct 1, 2013·Nature Genetics·Christian P SchaafYaping Yang
May 28, 2013·Nature Neuroscience·Alessandra ChesiAaron D Gitler
Dec 10, 2013·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Steven E Hyman
Oct 2, 2013·Nature Reviews. Drug Discovery·Anirvan GhoshLuca Santarelli
Mar 27, 2013·Nature Reviews. Endocrinology·Julia S El-Sayed Moustafa, Philippe Froguel
Jul 11, 2012·Nature Reviews. Genetics·Patrick F SullivanMichael C O'Donovan
Jul 19, 2012·Nature Reviews. Genetics·Joris A Veltman, Han G Brunner
Apr 10, 2013·Nature Reviews. Genetics·Jehnna L RonanGerald R Crabtree
Sep 4, 2013·Nature Reviews. Genetics·Kym M BoycottAlex E MacKenzie
Aug 1, 2012·Nature Reviews. Neurology·Jia-Nee FooE K Tan
Jun 13, 2013·Translational Psychiatry·Geert PoelmansJan K Buitelaar
Feb 23, 2013·Proceedings of the National Academy of Sciences of the United States of America·Gina E ElsenRobert Hevner
Aug 21, 2012·Proceedings of the National Academy of Sciences of the United States of America·Kasper LageLars A Larsen
Mar 12, 2013·Proceedings of the National Academy of Sciences of the United States of America·Donna M Werling, Daniel H Geschwind
Dec 12, 2012·Genetic Testing and Molecular Biomarkers·Jyoti Rajan SharmaLize van der Merwe
Jul 31, 2012·Human Molecular Genetics·Richard AnneyBernie Devlin
Sep 20, 2012·Human Molecular Genetics·Shamil Sunyaev
Sep 18, 2012·Human Molecular Genetics·Ron DoGoncalo Abecasis
Oct 27, 2012·Human Molecular Genetics·Jonathan J RiosMarybeth Ezaki
Mar 29, 2013·Human Molecular Genetics·Santhosh GirirajanScott B Selleck
Aug 8, 2013·Human Molecular Genetics·Kalliope PanoutsopoulouEleftheria Zeggini
Jul 6, 2013·Science·Annapurna PoduriChristopher A Walsh
May 25, 2012·Science Translational Medicine·Eric J Topol
Sep 21, 2012·Science Translational Medicine·Virginia HughesHuda Zoghbi
Jul 3, 2013·Journal of Medical Genetics·Nicolas SimonisCatheline Vilain
Jul 24, 2013·Annual Review of Genomics and Human Genetics·Ruth M Baxter, Eric Vilain
Jul 24, 2013·Annual Review of Genomics and Human Genetics·Guillaume HuguetThomas Bourgeron
Nov 2, 2013·The Journal of Clinical Investigation·Paola Giusti-Rodríguez, Patrick F Sullivan
Oct 11, 2012·BMC Medical Genetics·Andrew T DeWanMichael B Bracken
Dec 5, 2013·BMC Medical Genetics·Isabelle ScheidRichard Delorme
Dec 13, 2012·Human Genomics·Chee-Seng KuDavid N Cooper
Nov 23, 2012·Molecular Autism·Michael V LombardoSimon Baron-Cohen
Dec 18, 2012·Molecular Autism·Ake Tzu-Hui LuRita M Cantor
Oct 17, 2012·Molecular Autism·Lambertus KleiBernie Devlin
Aug 7, 2013·Molecular Autism·Wei-Hsien ChienChia-Hsiang Chen
Apr 20, 2013·Molecular Autism·Lingling ShiH Hakonarson
Aug 2, 2012·Genome Biology·Jamee M Berg, Daniel H Geschwind
Aug 10, 2013·Disease Models & Mechanisms·Kara G Pratt, Arseny S Khakhalin
Apr 27, 2012·Environmental Health Perspectives·Janie F SheltonIsaac N Pessah
Aug 13, 2013·PLoS Computational Biology·Idan MenashePartha P Mitra
Aug 31, 2013·PLoS Genetics·Slavé PetrovskiDavid B Goldstein
Sep 18, 2012·PloS One·Matthew R GinsbergMarvin R Natowicz
Jun 21, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Brett T StaahlGerald R Crabtree
Aug 24, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Bradford M ElmerA Kimberley McAllister
Feb 15, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Joseph D DoughertyNathaniel Heintz
Nov 30, 2013·International Journal of Environmental Research and Public Health·Tetsushi SadakataTeiichi Furuichi
May 31, 2014·PLoS Genetics·Esther R BerkoJohn M Greally
Jul 6, 2014·PloS One·Kenneth Andrew Ross
Feb 26, 2014·Current Opinion in Neurology·Andrew T TebbenkampNenad Sestan
Nov 5, 2014·Nature·Ivan IossifovMichael Wigler
Oct 9, 2013·Journal of Medical Genetics·Brigid AdvientoL A Weiss
Nov 5, 2014·Nature·Silvia De RubeisJoseph D Buxbaum
Mar 13, 2014·Harvard Review of Psychiatry·Michael E TalkowskiJames F Gusella
Feb 18, 2014·Nature Genetics·Céline HelsmoortelN Van der Aa
Sep 12, 2012·Molecular Psychiatry·E SkafidasC Pantelis
Jan 17, 2014·Nature Reviews. Genetics·Michael RonemusMichael Wigler
Jan 29, 2014·Nature Reviews. Neurology·Shafali S Jeste, Daniel H Geschwind
Mar 22, 2014·BMC Medical Genetics·Teresa TavassoliJoseph D Buxbaum
Apr 8, 2014·Genes·Sara L PulitPaul Iw de Bakker
Jan 11, 2014·International Journal of Epidemiology·Selma IdringBrian K Lee
May 13, 2014·Cell and Tissue Research·Deborah Roidl, Christine Hacker
May 27, 2014·Molecular Autism·Abha R GuptaMatthew W State
Mar 29, 2014·Schizophrenia Bulletin·S E McCarthyA P Corvin
Mar 13, 2014·International Journal of Epidemiology·Young Shin Kim, Matthew W State
Apr 12, 2014·Molecular Autism·Catarina CorreiaAstrid M Vicente
Mar 25, 2014·Molecular Autism·Rebecca G SmithJ Mill
Jan 21, 2014·Proceedings of the National Academy of Sciences of the United States of America·Or ZukEric S Lander
May 17, 2014·Journal of Neurodevelopmental Disorders·Sébastien ChénierDimitri J Stavropoulos
Apr 10, 2014·Biomarkers in Medicine·Richard E Frye, S Jill James
Jul 9, 2014·Annual Review of Genomics and Human Genetics·Laure SégurelMolly Przeworski
Aug 20, 2014·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Erica ShenSchahram Akbarian
Sep 4, 2014·Annual Review of Genomics and Human Genetics·Wen F HuChristopher A Walsh
Jul 21, 2014·Nature Genetics·Trent GauglerJoseph D Buxbaum
Mar 8, 2014·Journal of Autism and Developmental Disorders·Thomas FrazierNathan Morris
Aug 19, 2014·Nature Methods·Giuseppe NarzisiMichael C Schatz
Sep 13, 2014·Current Psychiatry Reports·John J Connolly, H Hakonarson
Apr 24, 2014·European Journal of Human Genetics : EJHG·Jincy WinstonMeena Upadhyaya
Nov 6, 2013·Molecular Psychiatry·Kun XiaF Zhang
Feb 1, 2014·Evolution, Medicine, and Public Health·Neil S Greenspan
Feb 23, 2013·Current Opinion in Neurology·Ingo Helbig, Daniel H Lowenstein
Sep 18, 2012·Science·Matthew W State, Nenad Sestan
Jan 13, 2015·International Journal of Molecular Sciences·Merlin G ButlerAnn M Manzardo
Jan 15, 2015·Annual Review of Medicine·William M Brandler, Jonathan Sebat
Jan 23, 2016·Frontiers in Molecular Neuroscience·Francesca Pischedda, Giovanni Piccoli
Feb 24, 2016·The Journal of Clinical Investigation·Haiyang YuAndrey S Shaw
Jan 5, 2016·Nature Genetics·Iuliana Ionita-LazaJoseph D Buxbaum
Sep 25, 2015·Proceedings of the National Academy of Sciences of the United States of America·Ivan IossifovMichael Wigler
Jan 15, 2016·Journal of Human Genetics·Bo TanLingqian Wu
Jan 6, 2016·Translational Psychiatry·L Diaz-BeltranDennis P Wall
Jan 7, 2016·Frontiers in Neuroscience·Rebecca A BarnardB J O'Roak
Oct 30, 2015·Genes & Genetic Systems·Yuichiro Hara
Oct 28, 2015·Nature Reviews. Genetics·Lisenka E L M VissersJoris A Veltman
Jun 25, 2015·Cellular and Molecular Life Sciences : CMLS·Abdulrzag F AhmedRick F Thorne
Feb 13, 2016·Neurology·Hannah StambergerSarah Weckhuysen
May 15, 2015·Nordic Journal of Psychiatry·Thomas Bourgeron
Oct 5, 2012·The New England Journal of Medicine·Joep de LigtLisenka E L M Vissers
Sep 13, 2015·Human Molecular Genetics·Celia Kun-RodriguesJose Bras
Sep 1, 2015·Social Neuroscience·Gül Dölen
Mar 26, 2016·Frontiers in Chemistry·Gaurav Kaushik, Konstantinos S Zarbalis
Nov 12, 2014·Molecular Psychiatry·Karina Griesi-OliveiraA R Muotri
Nov 26, 2014·Molecular Psychiatry·A K MerikangasLouise Gallagher
Jun 19, 2015·Journal of Autism and Developmental Disorders·Heidi S LumishWendy K Chung
Apr 12, 2016·Frontiers in Cellular Neuroscience·Dawn B Lammert, Brian W Howell
Nov 20, 2015·Journal of Human Genetics·Ryota HashimotoHitoshi Hashimoto
Sep 24, 2015·European Journal of Human Genetics : EJHG·Anne-Laure Mosca-BoidronThomas Bourgeron
Apr 7, 2016·Nature Medicine·Luis de la Torre-UbietaDaniel H Geschwind
Jul 19, 2015·Human Molecular Genetics·Silvia De Rubeis, Joseph D Buxbaum
May 24, 2015·Nucleic Acids Research·Julia SteinbergCaleb Webber
Aug 21, 2015·Nature Reviews. Neuroscience·Thomas Bourgeron
Jan 1, 2013·Journal of Molecular Psychiatry·Alisa G WoodsCostel C Darie
Jun 1, 2014·Critical Reviews in Clinical Laboratory Sciences·Yong-hui JiangSau W Cheung
Apr 15, 2016·Human Genetics·Stefan H LelieveldChristian Gilissen
Jul 8, 2015·Nature Reviews. Genetics·Neelroop N ParikshakDaniel H Geschwind
Jul 17, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Mauricio A SáezManel Esteller
Apr 4, 2015·Annual Review of Neuroscience·Erin L HeinzenDavid B Goldstein
Jun 16, 2015·Frontiers in Computational Neuroscience·Pascal GrangeMichael Hawrylycz
Mar 19, 2015·BMC Medical Genomics·Worrawat EngchuanDaniele Merico
Dec 4, 2014·BMC Medical Genomics·Casper ShyrWyeth W Wasserman
Feb 20, 2015·Journal of Human Genetics·Ryoko FukaiNaomichi Matsumoto
Feb 5, 2014·Dermato-endocrinology·John J Cannell, William B Grant
Mar 20, 2015·American Journal of Public Health·Christine FountainPeter Bearman
Jan 9, 2015·Stem Cells and Development·Joseph A MicucciDonna M Martin
Sep 26, 2013·[Rinshō ketsueki] The Japanese journal of clinical hematology·Hideki Makishima
Jan 1, 2015·Nucleic Acids Research·Owen J L RackhamEnrico Petretto
Jul 6, 2014·European Journal of Human Genetics : EJHG·Jonathan J Rios, Mauricio R Delgado
Oct 8, 2014·Proceedings of the National Academy of Sciences of the United States of America·Elise B RobinsonMark J Daly
Oct 9, 2014·Proceedings of the National Academy of Sciences of the United States of America·Aarathi SugathanMichael E Talkowski
Feb 11, 2015·Molecular Psychiatry·G McMichaelA H MacLennan
Dec 30, 2014·Frontiers in Neuroscience·Louie N van de LagemaatJ Alexander Heimel
Mar 29, 2014·Frontiers in Synaptic Neuroscience·Aislinn J Williams, Hisashi Umemori
Dec 17, 2014·Frontiers in Synaptic Neuroscience·Gregg W Crabtree, Joseph A Gogos
Jul 16, 2014·Frontiers in Pediatrics·Richard E Frye, Daniel A Rossignol
Nov 12, 2014·Molecular Psychiatry·David H KavanaghMichael J Owen
Nov 19, 2014·Proceedings of the National Academy of Sciences of the United States of America·Angela M MabbMark J Zylka
Oct 26, 2012·The Behavioral and Brain Sciences·Curtis K Deutsch, William J McIlvane
Jan 27, 2015·Annual Review of Pathology·Jason A ChenDaniel H Geschwind
Dec 24, 2014·Nature·Deciphering Developmental Disorders Study
Jan 20, 2015·Nature Communications·Søren BesenbacherSimon Rasmussen
May 21, 2016·Frontiers in Genetics·Mark N Ziats, Owen M Rennert
Oct 30, 2013·Disease Markers·Irina Voineagu, Hee Jeong Yoo
May 2, 2016·Human Genetics·Jinting GuanJames J Cai
Oct 29, 2015·European Journal of Human Genetics : EJHG·Amirthagowri AmbalavananGuy A Rouleau
Jun 29, 2013·Genome Medicine·Chirag J PatelGreg Gibson
May 25, 2016·Journal of Child and Adolescent Psychopharmacology·Lindsay M ObermanAlvaro Pascual-Leone
May 26, 2016·The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry·Ye TianDai Zhang
Jun 24, 2016·Proceedings of the National Academy of Sciences of the United States of America·Tao DongYi Zhong
Jul 21, 2016·Nature Reviews. Gastroenterology & Hepatology·Meenakshi Rao, Michael D Gershon
Aug 16, 2016·Nature Communications·Dmitriy I PodolskiyVadim N Gladyshev
Jul 1, 2016·Annual Review of Genomics and Human Genetics·Shawn Levy, Richard M Myers
Sep 8, 2016·Nature·Yuta KatayamaKeiichi I Nakayama
Sep 7, 2016·Stem Cells and Development·Makiko YamadaMarco Seandel
Nov 24, 2016·European Journal of Human Genetics : EJHG·Laurent C FrancioliPaul Iw de Bakker
Dec 2, 2016·Brain Structure & Function·Ahmed MahfouzMarcel J T Reinders
Oct 10, 2015·Journal of Neurodevelopmental Disorders·Charlotte TyePatrick F Bolton
May 1, 2015·Scientific Reports·Tadamoto IsogaiMetello Innocenti
Mar 25, 2017·International Journal of Molecular Sciences·Juliana MagdalonAndrea L Sertié
Jan 20, 2016·Brain Imaging and Behavior·Christina ChenGENDAAR Research Consortium
Jan 12, 2017·Human Mutation·Anneke T Vulto-van SilfhoutBert B A de Vries
Apr 20, 2017·European Journal of Human Genetics : EJHG·Arija JansenDanielle Posthuma
Apr 5, 2017·Translational Psychiatry·M J MoenRaymond A Poot
Dec 27, 2016·American Journal of Human Genetics·Hsiao-Tuan ChaoMay C Malicdan
May 5, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kate TsiplovaWendy J Ungar
Sep 1, 2014·Biochemical and Biophysical Research Communications·Xiaoxi Liu, Toru Takumi
Mar 24, 2017·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Daniel Seung KimUniversity of Washington Center for Mendelian Genomics
Oct 5, 2013·Current Opinion in Neurobiology·Brett T Staahl, Gerald R Crabtree
Feb 6, 2017·Neuroscience and Biobehavioral Reviews·Marieke KleinBarbara Franke
Jun 14, 2017·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Yosuke EriguchiYukiko KanoMD PhD
Mar 13, 2014·Epilepsy & Behavior : E&B·Caroline LundKaja Kristine Selmer
Sep 10, 2014·Nature Communications·Lori A OroscoKonstantinos S Zarbalis
Nov 25, 2014·PloS One·Michel GuipponiStylianos E Antonarakis
Feb 15, 2017·BMC Genomics·Varun AggarwalaBenjamin F Voight
Mar 31, 2017·Scientific Reports·Silva KourtianRose-Mary N Boustany
Feb 12, 2017·Molecular Autism·Cynthia M SchumannBoryana Stamova
Jan 24, 2017·Addiction Biology·Ian R GizerKirk C Wilhelmsen
Apr 14, 2017·Cell Reports·Randall J PlattFeng Zhang
Feb 9, 2017·Molecular Cytogenetics·Sara PeixotoIsabel M Carreira
Dec 17, 2016·Journal of Neurodevelopmental Disorders·Vickie KwanKarun K Singh
Mar 26, 2015·Social Studies of Science·Stefan Timmermans
Sep 17, 2015·Journal of Child Neurology·Shafali S Jeste, Roberto Tuchman
Jun 14, 2017·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Jacob J Michaelson
Jul 1, 2016·Molecular Neurobiology·Xiaozhuo LiuOwen M Rennert
Feb 27, 2018·Nature Reviews. Genetics·Konrad J Karczewski, Michael Snyder
Feb 15, 2018·Molecular Cytogenetics·Carla Sustek D'AngeloCelia Priszkulnik Koiffmann
Sep 22, 2017·Human Molecular Genetics·Jasmine M McCammonHazel Sive
Jan 21, 2018·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·David St Clair, Mandy Johnstone
Sep 5, 2017·International Journal of Molecular Sciences·Mihiro ShibutaniIzuho Hatada
Sep 22, 2017·International Journal of Molecular Sciences·Sara Anna BoniniMaurizio Memo
Apr 14, 2018·Science Advances·Weijun LuoCory R Brouwer
Dec 24, 2017·Proteomics. Clinical Applications·Liming ShenJian Zhai
Dec 7, 2017·Frontiers in Cellular Neuroscience·James Gilbert, Heng-Ye Man
Jan 21, 2016·American Journal of Medical Genetics. Part a·Nancy MernerCarl Ernst
Sep 15, 2017·American Journal of Medical Genetics. Part a·Claire GreenMeena Balasubramanian
Sep 19, 2014·Nature Communications·Pelagia DeriziotisSimon E Fisher
Nov 8, 2014·Genome Research·Fereydoun HormozdiariEvan E Eichler
Aug 11, 2017·Neuroscience Bulletin·Yao TianJunhai Han
May 26, 2017·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Rebecca T EmenyKarl-Heinz Ladwig
Dec 3, 2017·Genes & Development·Miles R FontenotGenevieve Konopka
Oct 4, 2017·Expert Opinion on Therapeutic Targets·Hannah StambergerPeter De Jonghe
Sep 3, 2013·Nature·Robert N Plasschaert, Marisa S Bartolomei
Aug 8, 2014·Nature·Shahar Shohat, Sagiv Shifman
Jun 11, 2016·Experimental & Molecular Medicine·Jeong Ho Lee
Oct 15, 2014·Molecular Psychiatry·A Oguro-AndoD H Geschwind
Aug 13, 2013·Nature·Andrew S AllenMelodie R Winawer
Jun 5, 2018·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·N V Solov'evaS A Kremenitskaya
Jun 18, 2017·Journal of Neurosurgical Anesthesiology·Vesna Jevtovic-Todorovic, Ansgar Brambrick
Aug 5, 2017·Biomarkers in Medicine·Richard E FryeEdward V Quadros
Jan 16, 2018·Epigenomics·Emily Ma Lewis, Kristen L Kroll
Jun 24, 2018·Brain and Behavior·Marwa DaghsniMichel De Waard
Feb 9, 2018·Cellular and Molecular Life Sciences : CMLS·Marie-Chantal GrégoireGuylain Boissonneault
Sep 3, 2017·Cold Spring Harbor Molecular Case Studies·Nicole G GriffinErin L Heinzen
Sep 6, 2015·Journal of Autism and Developmental Disorders·Anoek M OerlemansNanda Rommelse
Jul 4, 2018·Human Mutation·Sandra M Sánchez-SánchezAndrea L Sertié
Sep 4, 2017·Journal of Medical Genetics·Genay O PilarowskiHans T Bjornsson
Sep 10, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Esther Y Son, Gerald R Crabtree
Apr 2, 2014·Electrophoresis·Armand G Ngounou WetieCostel C Darie
Feb 25, 2015·Autism Research : Official Journal of the International Society for Autism Research·Katri KantojärviIrma Järvelä
Jan 21, 2015·Autism Research : Official Journal of the International Society for Autism Research·Hsiu-Chun ChuangYi-Ping Hsueh
Nov 19, 2013·American Journal of Medical Genetics. Part a·Gaetano TerroneEnnio Del Giudice
Jun 13, 2015·Annals of Neurology·Epilepsy Phenome/Genome Project Epi4K Consortium
Oct 12, 2018·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Joanna MartinPatrik K E Magnusson
Oct 10, 2014·PLoS Genetics·Julien CouthouisAaron D Gitler
Mar 5, 2016·PloS One·Benjamin W DarbroAlexander G Bassuk
Jun 4, 2015·PloS One·Simon L GirardGuy A Rouleau
Mar 5, 2016·PloS One·Matthew D ShirleyJonathan Pevsner
Sep 30, 2016·Science Advances·Kyoko YoshidaMasaki Isoda
Nov 14, 2018·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Raida KhalilMaria H Chahrour
Nov 9, 2016·Nature Communications·Tianyun WangEvan E Eichler
Jan 22, 2019·Translational Psychiatry·Ashok PatowaryZoran Brkanac
Jan 22, 2019·Autism Research : Official Journal of the International Society for Autism Research·Cheryl DissanayakeLauren P Lawson
Jan 17, 2019·Genes·Tiphanie CavéGuylain Boissonneault
Mar 7, 2018·Nature Structural & Molecular Biology·Wa Xian, Frank McKeon
Mar 7, 2018·Translational Psychiatry·Marlena DudaYuanfang Guan
Feb 14, 2019·Bioinformatics·Utku Norman, A Ercument Cicek
Jan 19, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jennifer E PoseyCenters for Mendelian Genomics
Apr 19, 2017·Annual Review of Genomics and Human Genetics·Samya Chakravorty, Madhuri Hegde
Apr 4, 2019·Journal of Computational Biology : a Journal of Computational Molecular Cell Biology·Prachi KothiyalJohn E Niederhuber
Sep 12, 2012·BioTechniques·Sarah A Webb
May 29, 2014·Nature Neuroscience·Steven A McCarrollSteven E Hyman
May 29, 2014·Nature Neuroscience·Xiaolin ZhuDavid B Goldstein
May 29, 2014·Nature Neuroscience·Sarah E MedlandPaul M Thompson
May 29, 2014·Nature Neuroscience·Alexander HoischenEvan E Eichler
May 29, 2014·Nature Neuroscience·Jacob GrattenPeter M Visscher
Jun 12, 2013·Nature Reviews. Genetics·David B GoldsteinShamil Sunyaev
May 11, 2012·Nature Reviews. Neuroscience·Darran Yates
Nov 25, 2014·Nature Communications·B J O'RoakEvan E Eichler
Aug 24, 2012·Nature·Ewen Callaway
Jan 28, 2014·Nature·Menachem FromerMichael C O'Donovan
Jan 28, 2014·Nature·Shaun M PurcellPamela Sklar
May 26, 2016·Human Genetics·Jack A KosmickiBenjamin M Neale
Nov 30, 2014·Human Genetics·Marc Woodbury-SmithStephen W Scherer
Feb 5, 2014·Journal of Neural Transmission·Andreas G ChiocchettiChristine M Freitag
Apr 9, 2015·European Child & Adolescent Psychiatry·Sarah HohmannTobias Banaschewski
Jan 1, 2013·G3 : Genes - Genomes - Genetics·Aparna PrasadStephen W Scherer
Mar 22, 2013·Biology of Reproduction·Jamila R MomandChristi A Walter
May 17, 2019·The Journal of Clinical Investigation·Gabriella E DiCarloAurelio Galli
May 29, 2019·Current Opinion in Neurology·Moe NakanishiToru Takumi
Dec 7, 2017·European Journal of Human Genetics : EJHG·Sandra JansenBert B A de Vries
Oct 18, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Matthew SchreiberDebby W Tsuang
Nov 14, 2018·Cold Spring Harbor Perspectives in Medicine·Stephan J Sanders
Jun 19, 2019·Human Mutation·Maria C AspromonteEmanuela Leonardi
Jan 22, 2014·Development, Growth & Differentiation·Tomomi AidaKohichi Tanaka
Jan 1, 2015·Molecular Systems Biology·Jingjing LiMichael Snyder
Apr 10, 2014·The European Journal of Neuroscience·Stéphane J Baudouin
Aug 2, 2013·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Eva Díaz-GuerraCarlos Vicario-Abejón
Jul 15, 2015·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Kaya K JacobsenJan Haavik
Mar 5, 2016·Indian Journal of Pediatrics·Shruthi SudarshanMadhulika Kabra
Sep 2, 2016·Wiley Interdisciplinary Reviews. Developmental Biology·Steven T Poynter, Cigall Kadoch
Mar 21, 2017·Journal of Medical Genetics·Xiaoming LiuJiao Chen
Sep 26, 2017·Molecular Genetics & Genomic Medicine·Mohnish SuriCaroline F Wright
Aug 22, 2017·Frontiers in Molecular Neuroscience·Godwin SokporTran Tuoc
Oct 4, 2017·Human Molecular Genetics·Michael TibshiraniHeather D Durham
Sep 26, 2017·Intractable & Rare Diseases Research·Toshiyuki SetoToshiyuki Yamamoto
Jul 31, 2018·Brain : a Journal of Neurology·Joanna SzczurkowskaLaura Cancedda
Oct 28, 2016·Nature Neuroscience·Michael J GandalDaniel H Geschwind
Nov 7, 2019·Autism Research : Official Journal of the International Society for Autism Research·Eduarda Morgana da Silva MontenegroMaria Rita Passos-Bueno
Nov 14, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Philip J OstrowskiKatrina Tatton-Brown
Oct 18, 2019·Journal of Inherited Metabolic Disease·Lulu KangYanling Yang
Oct 7, 2015·Current Protocols in Human Genetics·James S WareMark J Daly
Jan 28, 2014·Genomics & Informatics·Shuoguo Wang, Jinchuan Xing
Nov 30, 2019·American Journal of Medical Genetics. Part a·Nurit Assia BatzirV Reid Sutton
Oct 9, 2019·Molecular Genetics & Genomic Medicine·Ya-Sian ChangHaung-Tsung Kuo
Nov 28, 2013·European Psychiatry : the Journal of the Association of European Psychiatrists·M ParelladaC Arango
Nov 3, 2018·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Amanda R RendallR Holly Fitch
Nov 7, 2019·Genes·Seung Kyu Lee, Weidong Wang
Nov 2, 2019·Molecular Psychiatry·Shiguo LiuJi-Song Guan
Aug 5, 2014·Nature Genetics·Kaitlin E SamochaMark J Daly
Oct 17, 2012·Clinical Chemistry·Jasmin H BavarvaHarold R Garner
Jan 8, 2020·Social Psychiatry and Psychiatric Epidemiology·Behrang MahjaniDorothy E Grice
Dec 11, 2019·Nature Biotechnology·David OchoaPedro Beltrao
Feb 18, 2020·Autism Research : Official Journal of the International Society for Autism Research·Holly N CukierMargaret A Pericak-Vance
Feb 26, 2016·Current Opinion in Neurology·Iman Mohammad-RezazadehShafali S Jeste
Feb 15, 2013·Current Opinion in Neurology·Donna M Werling, Daniel H Geschwind
Mar 5, 2020·Autism Research : Official Journal of the International Society for Autism Research·Aubrey N SciaraMichelle J Chandley
Nov 7, 2019·Journal of Neuroscience Research·Melissa Malvaez
Sep 16, 2016·PLoS Genetics·Donald Freed, Jonathan Pevsner
Sep 29, 2017·PLoS Genetics·Carlos Eduardo G AmorimMolly Przeworski
Mar 7, 2020·Human Molecular Genetics·Atsuki KawamuraKeiichi I Nakayama
Oct 6, 2015·PloS One·Christian Magnus PageBettina Kulle Andreassen
Jan 17, 2016·BMC Bioinformatics·Lun-Ching ChangWei Chen
Oct 21, 2015·Journal of Neurochemistry·Orly ReinerKozo Kaibuchi
Jan 8, 2016·Genome Medicine·Janson WhiteV Reid Sutton
Jul 18, 2017·Human Mutation·Perry T C van DoormaalAlexander E Volk
Jun 15, 2016·Stem Cells·Min LiuSanbing Shen
Feb 20, 2016·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Jaqueline Bohrer SchuchLuciana Tovo-Rodrigues
Jun 22, 2019·Scientific Reports·Alexandra BoginyaItay Onn
Jul 7, 2020·Molecular Systems Biology·Benjamin J Livesey, Joseph A Marsh
Jul 11, 2019·Human Genomics·Ana R CardosoLuisa Azevedo
Jul 16, 2020·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Veronica B Searles QuickMatthew W State
May 28, 2020·Birth Defects Research·Andrea AccogliValeria Capra
Nov 21, 2019·Aging·Sabah NisarMohammad Haris
Aug 21, 2020·Autism Research : Official Journal of the International Society for Autism Research·Samuel W HulbertYong-Hui Jiang
Aug 21, 2020·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Ehud BanneMichal Linial
May 13, 2020·Annual Review of Genomics and Human Genetics·Caroline M Dias, Christopher A Walsh
May 19, 2020·Annual Review of Genomics and Human Genetics·David R FitzPatrick, Helen V Firth
Jun 9, 2015·Autism Research : Official Journal of the International Society for Autism Research·Chakravarthi KanduriIrma Järvelä
Jun 25, 2015·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Ece D GamsizEric M Morrow
Aug 26, 2015·Genome Medicine·Candace T Myers, Heather C Mefford
Apr 3, 2016·Developmental Medicine and Child Neurology·Jaume CampistolRafael Artuch
Jan 15, 2015·Journal of Medical Genetics·Min HeKai Wang
Sep 14, 2016·Journal of Medical Genetics·Francisco MartínezCarmen Orellana
Jun 1, 2013·Developmental Neurobiology·Denise CookKeith K Murai
Jun 27, 2013·Autism Research : Official Journal of the International Society for Autism Research·Karina Griesi-OliveiraMaria Rita Passos-Bueno
Oct 4, 2014·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Sebastian LundströmHenrik Anckarsäter
Feb 11, 2015·Acta Paediatrica·Mats Anders ErikssonBritt-Marie Anderlid
Sep 26, 2015·Genes, Brain, and Behavior·T M KazdobaJ N Crawley
Jun 22, 2016·Genome Research·James H NotwellGill Bejerano
Jul 14, 2016·Cellular and Molecular Life Sciences : CMLS·Akira GokoolparsadhIrina Voineagu
Jun 2, 2016·Psychiatry Investigation·Elif Funda SenerYusuf Ozkul
Nov 9, 2016·Biology Direct·Craig E Stanley, Rob J Kulathinal
Apr 30, 2017·Science·Michael J McConnellBrain Somatic Mosaicism Network
Jul 22, 2017·Journal of Molecular Neuroscience : MN·T V KhramovaA I Archakov
Jul 14, 2017·Molecular Autism·Jamie ReillySanbing Shen
Nov 21, 2017·Biological Reviews of the Cambridge Philosophical Society·Zi-Bing JinJinyu Wu
Apr 19, 2018·Frontiers in Pediatrics·Elizabeth A LaMarcaKristen J Brennand
Jul 10, 2018·Genome Biology and Evolution·Igor B RogozinAlejandro A Schaffer
Jul 3, 2018·Frontiers in Molecular Neuroscience·Kay-Marie J Lamar, Gemma L Carvill
Aug 30, 2018·Frontiers in Genetics·Laura PranckėnienėVaidutis Kučinskas
Oct 14, 2018·Brain Structure & Function·Fani MemiWilliam D Andrews
Oct 12, 2018·Oncogene·Michaela KuhlenArndt Borkhardt
Feb 13, 2019·Molecular Biology and Evolution·Beth L Dumont
Jan 18, 2020·Nature Reviews. Disease Primers·Catherine LordJeremy Veenstra-VanderWeele
Dec 25, 2019·Nature Medicine·Martin W BreussJoseph G Gleeson
Apr 22, 2020·Proceedings of the National Academy of Sciences of the United States of America·Wendy WenderskiJoseph G Gleeson
May 16, 2012·Nature Reviews. Genetics·Mary Muers
Feb 2, 2013·Expert Review of Neurotherapeutics·Adam E HandelSreeram V Ramagopalan
Jun 14, 2014·The International Journal of Neuropsychopharmacology·D Goldman, K Domschke
Sep 4, 2015·Science China. Life Sciences·Nobuhiro NakaiToru Takumi
May 8, 2015·Current Neurology and Neuroscience Reports·Silvia De Rubeis, Joseph D Buxbaum
Aug 27, 2015·Genome Medicine·Andrew PolyakSanthosh Girirajan
Oct 16, 2016·Prenatal Diagnosis·Jiani Yin, Christian P Schaaf