De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Nature
Stephan J SandersMatthew W State

Abstract

Multiple studies have confirmed the contribution of rare de novo copy number variations to the risk for autism spectrum disorders. But whereas de novo single nucleotide variants have been identified in affected individuals, their contribution to risk has yet to be clarified. Specifically, the frequency and distribution of these mutations have not been well characterized in matched unaffected controls, and such data are vital to the interpretation of de novo coding mutations observed in probands. Here we show, using whole-exome sequencing of 928 individuals, including 200 phenotypically discordant sibling pairs, that highly disruptive (nonsense and splice-site) de novo mutations in brain-expressed genes are associated with autism spectrum disorders and carry large effects. On the basis of mutation rates in unaffected individuals, we demonstrate that multiple independent de novo single nucleotide variants in the same gene among unrelated probands reliably identifies risk alleles, providing a clear path forward for gene discovery. Among a total of 279 identified de novo coding mutations, there is a single instance in probands, and none in siblings, in which two independent nonsense variants disrupt the same gene, SCN2A (sodium cha...Continue Reading

References

Mar 1, 2003·Molecular Psychiatry·Lauren A WeissMiriam H Meisler
Mar 19, 2004·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Kazusaku KamiyaKazuhiro Yamakawa
Jun 21, 2005·Genome Research·Gregory M CooperArend Sidow
Mar 17, 2007·Science·Jonathan SebatMichael Wigler
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jun 10, 2009·Bioinformatics·Heng Li1000 Genome Project Data Processing Subgroup
Jun 30, 2009·Proteomics·Noura S Abul-HusnLakshmi A Devi
Mar 31, 2010·The Journal of Physiology·Miriam H MeislerLisa M Sharkey
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil Sunyaev
Apr 1, 2010·Nature Methods·Gregory M CooperDeborah A Nickerson
Dec 21, 2010·Nature Neuroscience·Alex BayésSeth G N Grant
Jul 12, 2011·Nature Genetics·Simon L GirardGuy A Rouleau
Aug 9, 2011·Nature Genetics·Bin XuMaria Karayiorgou
Oct 28, 2011·Nature·Hyo Jung KangNenad Sestan

Citations

Nov 2, 2013·Trends in Genetics : TIG·Luciana Musante, H Hilger Ropers
Jul 19, 2013·Cellular and Molecular Life Sciences : CMLS·Chaehyun YookJinhyun Kim
Dec 3, 2013·Psychopharmacology·J A S VorstmanJan K Buitelaar
Oct 3, 2013·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Janine M Simmons, Kevin J Quinn
Mar 19, 2013·Human Genetics·Liam R Brunham, Michael R Hayden
Aug 29, 2012·Journal of Autism and Developmental Disorders·Barbara A Stewart, Amar J S Klar
Feb 26, 2013·Current Psychiatry Reports·Matthew Ezewudo, Michael E Zwick
Oct 6, 2012·Experimental Neurology·Beatriz C FreitasAlysson R Muotri
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
Sep 7, 2013·Trends in Genetics : TIG·Nir Oksenberg, Nadav Ahituv
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
May 2, 2013·European Journal of Human Genetics : EJHG·Caroline NavaChristel Depienne
Jan 18, 2013·Journal of Human Genetics·L ZuoX Luo
Jul 27, 2012·Journal of Human Genetics·Bahareh RabbaniIturo Inoue
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
Nov 13, 2012·Nature Neuroscience·Michael J SoskisMichael E Greenberg
May 28, 2013·Nature Neuroscience·Alessandra ChesiAaron D Gitler
Jun 27, 2013·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Mark R EmmettCarol Lynn Nilsson
Dec 10, 2013·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Steven E Hyman
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
Sep 12, 2012·Nature Reviews. Genetics·Aylwyn Scally, Richard Durbin
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
Mar 12, 2013·Proceedings of the National Academy of Sciences of the United States of America·Donna M Werling, Daniel H Geschwind
Sep 11, 2012·Brain : a Journal of Neurology·Niels EijkelkampJohn N Wood
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
Mar 29, 2013·Human Molecular Genetics·Santhosh GirirajanScott B Selleck
May 4, 2013·Human Molecular Genetics·Yerbol Z KurmangaliyevMikhail S Gelfand
Aug 8, 2013·Human Molecular Genetics·Kalliope PanoutsopoulouEleftheria Zeggini
Jul 17, 2013·Human Reproduction Update·Meritxell JodarReproductive Medicine Network
Jun 2, 2012·Science·Radoje Drmanac
Jul 6, 2013·Science·Annapurna PoduriChristopher A Walsh
Jul 11, 2013·Science Signaling·Sandeep K Singh, Cagla Eroglu
May 25, 2012·Science Translational Medicine·Eric J Topol
Sep 21, 2012·Science Translational Medicine·Virginia HughesHuda Y Zoghbi
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
May 7, 2013·Annual Review of Neuroscience·Jonathan F RussellLouis J Ptáček
Feb 16, 2013·Circulation Research·Akl C FahedChristine E Seidman
Oct 11, 2012·BMC Medical Genetics·Andrew T DeWanMichael B Bracken
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
Apr 20, 2013·Molecular Autism·Lingling ShiHakon Hakonarson
Aug 31, 2013·Genome Biology·Sangwoo KimVineet Bafna
Aug 2, 2012·Genome Biology·Jamee M Berg, Daniel H Geschwind
Apr 27, 2012·Environmental Health Perspectives·Janie F SheltonIsaac N Pessah
Aug 13, 2013·PLoS Computational Biology·Idan MenashePartha P Mitra
Mar 15, 2014·PLoS Computational Biology·Andrey RzhetskyRobert D Gibbons
Aug 31, 2013·PLoS Genetics·Slavé PetrovskiDavid B Goldstein
Jan 5, 2014·PLoS Genetics·Simon GravelCarlos D Bustamante
Sep 18, 2012·PloS One·Matthew R GinsbergMarvin R Natowicz
Feb 15, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Joseph D DoughertyNathaniel Heintz
Nov 29, 2013·International Journal of Environmental Research and Public Health·Hiroshi Yasuda, Toyoharu Tsutsui
Nov 30, 2013·International Journal of Environmental Research and Public Health·Tetsushi SadakataTeiichi Furuichi
Dec 11, 2013·Pediatric Research·Senthil SundaramHarry Chugani
Feb 26, 2014·Current Opinion in Neurology·Andrew T TebbenkampNenad Sestan
Dec 3, 2014·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Jialong LiangZhong Sheng Sun
Nov 5, 2014·Nature·Ivan IossifovMichael Wigler
Oct 9, 2013·Journal of Medical Genetics·Brigid AdvientoLauren A Weiss
Nov 5, 2014·Nature·Silvia De RubeisJoseph D Buxbaum
Mar 13, 2014·Harvard Review of Psychiatry·Michael E TalkowskiJames F Gusella
Mar 13, 2014·Harvard Review of Psychiatry·Carol CurtinLinda G Bandini
Apr 5, 2014·Neuron·Michael AilionErik M Jorgensen
Feb 18, 2014·Nature Genetics·Céline HelsmoortelN Van der Aa
Apr 18, 2014·Current Neurology and Neuroscience Reports·Sarah Weckhuysen, Christian M Korff
Feb 27, 2013·Molecular Psychiatry·A S CristinoCharles Claudianos
Jan 17, 2014·Nature Reviews. Genetics·Michael RonemusMichael Wigler
Oct 23, 2013·Proceedings of the National Academy of Sciences of the United States of America·Pablo Garcia-Junco-ClementePeyman Golshani
Jan 29, 2014·Nature Reviews. Neurology·Shafali S Jeste, Daniel H Geschwind
Mar 22, 2014·BMC Medical Genetics·Teresa TavassoliJoseph D Buxbaum
Jan 15, 2014·Psychopharmacology·Kristel T E KleijerJ Peter H Burbach
May 27, 2014·Molecular Autism·Abha R GuptaMatthew W State
May 2, 2014·Translational Psychiatry·S SampinoG E Ptak
Mar 29, 2014·Schizophrenia Bulletin·S E McCarthyA P Corvin
Mar 13, 2014·International Journal of Epidemiology·Young Shin Kim, Matthew W State
Jan 24, 2014·Proceedings of the National Academy of Sciences of the United States of America·Michael A RobichauxChristopher W Cowan
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
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 W FrazierNathan Morris
Aug 19, 2014·Nature Methods·Giuseppe NarzisiMichael C Schatz
Sep 13, 2014·Current Psychiatry Reports·John J Connolly, Hakon Hakonarson
Sep 4, 2013·Journal of the American Medical Informatics Association : JAMIA·Jae-Yoon JungDennis P Wall
Nov 6, 2013·Molecular Psychiatry·Kun XiaF Zhang
Oct 15, 2014·The Journal of Experimental Medicine·Jean-Laurent CasanovaLuigi D Notarangelo
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
Feb 24, 2016·Frontiers in Cellular Neuroscience·Francesco PetrelliPaola Bezzi
Jan 15, 2015·Annual Review of Medicine·William M Brandler, Jonathan Sebat
Jan 5, 2016·Nature Genetics·Iuliana Ionita-LazaJoseph D Buxbaum
Dec 23, 2015·Nature Neuroscience·Michael R JohnsonEnrico Petretto
Jan 28, 2016·Nature Neuroscience·Donna M Werling, Stephan J Sanders
Sep 25, 2015·Proceedings of the National Academy of Sciences of the United States of America·Ivan IossifovMichael Wigler
Jul 29, 2015·Channels·Sandra B GabelliL Mario Amzel
Feb 18, 2016·Neural Plasticity·Mario O CaracciGiancarlo V De Ferrari
Jan 6, 2016·Translational Psychiatry·L Diaz-BeltranDennis P Wall
Jan 7, 2016·Frontiers in Neuroscience·Rebecca A BarnardB J O'Roak
Mar 15, 2016·Frontiers in Behavioral Neuroscience·Stefanie GrabruckerAndreas M Grabrucker
Oct 30, 2015·Genes & Genetic Systems·Yuichiro Hara
Feb 25, 2015·Molecular Psychiatry·Bregje W van BonEvan E Eichler
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
Mar 26, 2016·Frontiers in Chemistry·Gaurav Kaushik, Konstantinos S Zarbalis
Mar 19, 2016·Database : the Journal of Biological Databases and Curation·Jiaxin WuRui Jiang
Nov 12, 2014·Molecular Psychiatry·Karina Griesi-OliveiraAlysson Renato 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
Nov 19, 2015·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Anjana S Narayanan, Adrian Rothenfluh
Nov 14, 2015·Annual Review of Cell and Developmental Biology·Daniel R ZollingerMatthew N Rasband
Jan 16, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Xiaolin ZhuDavid B Goldstein
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
Aug 21, 2015·Neurology·Katherine B HowellIngrid E Scheffer
May 24, 2015·Nucleic Acids Research·Julia SteinbergCaleb Webber
Aug 28, 2014·BioMed Research International·Yanfeng ZhangJirong Long
Oct 13, 2012·International Review of Psychiatry·Prachi KukshalSmita N Deshpande
Jun 1, 2014·Critical Reviews in Clinical Laboratory Sciences·Yong-Hui JiangSau W Cheung
May 12, 2015·Journal of Cognitive Neuroscience·Matthew A ScultAhmad R Hariri
Aug 1, 2015·Journal of Human Genetics·Alex V PostmaVincent M Christoffels
Jul 22, 2015·Translational Psychiatry·Elliott ReesMichael C O'Donovan
Jul 21, 2015·Nature Reviews. Neuroscience·Myka L Estes, A Kimberley McAllister
Jul 8, 2015·Nature Reviews. Genetics·Neelroop N ParikshakDaniel H Geschwind
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
May 12, 2015·Nature Genetics·Niklas KrummEvan E Eichler
Feb 20, 2015·Journal of Human Genetics·Ryoko FukaiNaomichi Matsumoto
Mar 10, 2015·Stem Cells and Development·Anjana Nityanandam, Kristin K Baldwin
Aug 21, 2014·European Journal of Human Genetics : EJHG·Alma KuechlerHartmut Engels
Feb 5, 2014·Dermato-endocrinology·John J Cannell, William B Grant
Mar 20, 2015·American Journal of Public Health·Christine FountainPeter Bearman
Jan 27, 2015·Nucleic Acids Research·Yuchao JiangNancy R Zhang
Oct 8, 2014·Proceedings of the National Academy of Sciences of the United States of America·Elise RobinsonMark J Daly
Oct 9, 2014·Proceedings of the National Academy of Sciences of the United States of America·Aarathi SugathanMichael E Talkowski
Mar 5, 2015·European Journal of Human Genetics : EJHG·Elin TønneTorunn Fiskerstrand
Feb 11, 2015·Molecular Psychiatry·G McMichaelA H MacLennan
Nov 8, 2014·Human Molecular Genetics·Elena V GazinaSteven Petrou
Dec 30, 2014·Frontiers in Neuroscience·Louie N van de LagemaatJ Alexander Heimel
Sep 6, 2014·Frontiers in Psychiatry·Wei-Chun Jim HsuFernanda Laezza
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
Oct 26, 2012·The Behavioral and Brain Sciences·Curtis K Deutsch, William J McIlvane
Dec 23, 2014·Nature Neuroscience·Jonathan ChangDennis Vitkup
Jan 27, 2015·Annual Review of Pathology·Jason A ChenDaniel H Geschwind
Dec 24, 2014·Nature·Deciphering Developmental Disorders Study
May 21, 2016·Frontiers in Genetics·Mark N Ziats, Owen M Rennert
Oct 30, 2013·Disease Markers·Irina Voineagu, Hee Jeong Yoo
Sep 5, 2014·Human Molecular Genetics·Ursula M SchickNational Heart, Lung, and Blood Institute GO Exome Sequencing Project
May 2, 2016·Human Genetics·Jinting GuanJames J Cai
May 14, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Samin A SajanJeffrey L Neul
Oct 29, 2015·European Journal of Human Genetics : EJHG·Amirthagowri AmbalavananGuy A Rouleau
Jun 29, 2013·Genome Medicine·Chirag J PatelGreg Gibson
May 18, 2016·Nature Reviews. Genetics·Sara GoodwinW Richard McCombie
Aug 11, 2016·Nucleic Acids Research·Romina D'AurizioAlberto Magi
Aug 16, 2016·Nature Communications·Dmitriy I PodolskiyVadim N Gladyshev
Mar 2, 2016·American Journal of Respiratory and Critical Care Medicine·Anna R HemnesEric D Austin
Jul 1, 2016·Annual Review of Genomics and Human Genetics·Natasha T Strande, Jonathan S Berg
Sep 8, 2016·Nature·Yuta KatayamaKeiichi I Nakayama
Sep 7, 2016·Stem Cells and Development·Makiko YamadaMarco Seandel
Oct 14, 2016·Journal of Autism and Developmental Disorders·Agnieszka ButwickaPaul Lichtenstein
Oct 27, 2016·Nature Medicine·Giorgia QuadratoPaola Arlotta
Nov 2, 2016·Nucleic Acids Research·Yi JiangJinyu Wu
Oct 27, 2016·Expert Review of Neurotherapeutics·Philipp Sebastian ReifKarl Martin Klein
Dec 2, 2016·Brain Structure & Function·Ahmed MahfouzMarcel J T Reinders
Sep 11, 2013·Autism : the International Journal of Research and Practice·Thomas W FrazierJohn N Constantino
Jan 31, 2017·Nature·Deciphering Developmental Disorders Study
Feb 18, 2017·International Journal of Molecular Sciences·Karen Y HeMax M He
Mar 3, 2017·Journal of Human Genetics·Avi SaskinYannis Trakadis
Mar 3, 2017·Genome Research·Prashant SrivastavaMichael R Johnson
Mar 25, 2017·International Journal of Molecular Sciences·Juliana MagdalonAndréa L Sertié
Feb 28, 2014·Autism Research : Official Journal of the International Society for Autism Research·Han Yuan, Joseph D Dougherty
Jan 17, 2015·Journal of Medical Case Reports·Philip D Bird
Jan 20, 2016·Brain Imaging and Behavior·Christina ChenGENDAAR Research Consortium
Apr 20, 2017·European Journal of Human Genetics : EJHG·Arija JansenDanielle Posthuma
Apr 19, 2017·Nature Reviews. Neurology·Karthikeyan ArdhanareeswaranFlora M Vaccarino
Apr 5, 2017·Translational Psychiatry·M J MoenR A Poot
Apr 5, 2017·The Journal of Clinical Investigation·Whitney BesseStefan Somlo
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
Apr 20, 2017·International Journal of Molecular Sciences·Oded Oron, Evan Elliott
May 18, 2017·European Journal of Human Genetics : EJHG·Dina VojinovicNajaf Amin
May 19, 2017·Cellular and Molecular Life Sciences : CMLS·Toshifumi Fukuda, Shigeru Yanagi
Jul 6, 2016·Molecular Psychiatry·Maria C MarchettoAlysson Renato Muotri
Jun 2, 2017·Nature Communications·Manish AroraSven Bölte
May 11, 2017·Neuropathology and Applied Neurobiology·F SauvestreG André
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
Sep 10, 2014·Nature Communications·Lori A OroscoKonstantinos S Zarbalis
Sep 6, 2014·Journal of Autism and Developmental Disorders·Patricia HowlinMichael Rutter
Apr 15, 2014·American Journal of Human Genetics·Anneke T Vulto-van SilfhoutBert B A de Vries
May 21, 2014·Fertility and Sterility·Sean AckermanR A Bernier
Sep 10, 2014·PLoS Biology·Tun LiYousheng Shu
Nov 25, 2014·PloS One·Michel GuipponiStylianos E Antonarakis
Mar 31, 2017·Scientific Reports·Silva KourtianRose-Mary N Boustany
Mar 8, 2017·Trends in Genetics : TIG·Caleb Webber
Apr 14, 2017·Cell Reports·Randall J PlattFeng Zhang
Feb 9, 2017·Molecular Cytogenetics·Sara PeixotoIsabel M Carreira
Jan 12, 2017·PLoS Genetics·Ileena MitraLauren A Weiss
Dec 17, 2016·Journal of Neurodevelopmental Disorders·Vickie KwanKarun K Singh
Mar 28, 2017·American Journal of Human Genetics·Sandra JansenBert B A de Vries
Mar 26, 2015·Social Studies of Science·Stefan Timmermans
Mar 2, 2016·ASN Neuro·Angeliki M NikolakopoulouIryna M Ethell
Jun 14, 2017·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Jacob J Michaelson
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
Mar 9, 2018·Developmental Neurobiology·Alysson Renato Muotri
Jan 20, 2018·Journal of Neurosurgery. Pediatrics·Daniel DuranKristopher T Kahle
Dec 1, 2017·Nucleic Acids Research·Wayne PereanuSharmila Banerjee-Basu
Jan 10, 2018·Epilepsia·Katrine M JohannesenRikke S Møller
Apr 14, 2018·Science Advances·Weijun LuoCory R Brouwer
May 9, 2018·PLoS Genetics·Erin L HeinzenEpilepsy Phenome/Genome Project
Sep 19, 2014·Nature Communications·Pelagia DeriziotisSimon E Fisher
May 8, 2018·Proceedings of the National Academy of Sciences of the United States of America·Laura Gómez-RomeroRafael Palacios
Nov 8, 2014·Genome Research·Fereydoun HormozdiariEvan E Eichler
Mar 27, 2018·Plastic and Reconstructive Surgery·Andrew T Timberlake, John A Persing
Aug 8, 2014·Nature·Shahar Shohat, Sagiv Shifman
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
Aug 5, 2017·Biomarkers in Medicine·Richard E FryeEdward V Quadros
Jan 16, 2018·Epigenomics·Emily Ma Lewis, Kristen L Kroll
Dec 1, 2017·Nature Neuroscience·Stephan J SandersNelson B Freimer
Jun 24, 2018·Brain and Behavior·Marwa DaghsniMichel De Waard
Feb 9, 2018·Cellular and Molecular Life Sciences : CMLS·Marie-Chantal GrégoireGuylain Boissonneault
Apr 8, 2017·Journal of Cell Science·Frédéric SaltelHélène Jacquemin-Sablon
Dec 23, 2015·Korean journal of pediatrics·Su-Kyeong Hwang, Soonhak Kwon
Apr 29, 2014·European Child & Adolescent Psychiatry·Andrea DietrichTIC Genetics Collaborative Group
Feb 15, 2016·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Sílvia VilarinhoRichard P Lifton
May 14, 2014·Autism Research : Official Journal of the International Society for Autism Research·Pauline ChasteSoo-Jeong Kim
Aug 29, 2014·Annals of Neurology·Ali TorkamaniJennifer A Kearney
Jan 21, 2015·Autism Research : Official Journal of the International Society for Autism Research·Hsiu-Chun ChuangYi-Ping Hsueh
Jun 13, 2015·Annals of Neurology·Epilepsy Phenome/Genome Project Epi4K Consortium
Aug 15, 2018·Autism Research : Official Journal of the International Society for Autism Research·Anne ArnettR A Bernier
Jul 23, 2016·Environmental Health Perspectives·Matthew J MeierFrancesco Marchetti
Aug 16, 2017·Proceedings of the National Academy of Sciences of the United States of America·Andrew T TimberlakeRichard P Lifton
Mar 1, 2016·Experimental Neurobiology·Hye Ran ParkSun Ha Paek
Oct 10, 2014·PLoS Genetics·Julien CouthouisAaron D Gitler
Jun 4, 2015·PloS One·Simon L GirardGuy A Rouleau
Apr 8, 2016·PLoS Genetics·Elizabeth T Cirulli
Mar 5, 2016·PloS One·Matthew D ShirleyJonathan Pevsner
Jun 2, 2015·PloS One·Adam D HaywardGeorgii A Bazykin
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
Feb 20, 2016·Nature Communications·Donna M WerlingDaniel H Geschwind
Oct 19, 2016·Nature Communications·Hung X NguyenNenad Bursac
Nov 9, 2016·Nature Communications·Tianyun WangEvan E Eichler
Nov 9, 2018·Frontiers in Molecular Neuroscience·Nicole M FisherColleen M Niswender
Feb 9, 2018·Human Genetics·Kathryn B ManheimerBruce D Gelb
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
May 1, 2015·Reproductive Biology and Endocrinology : RB&E·Rakesh SharmaRola F Turki
Jun 9, 2015·Molecular Autism·Laurent MottronLan Xiong
Jan 31, 2019·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Congyi LuJen Q Pan
Apr 3, 2019·International Journal of Molecular Sciences·Sadig Niftullayev, Nathalie Lamarche-Vane
Sep 12, 2012·BioTechniques·Sarah A Webb
Dec 18, 2013·Development and Psychopathology·Geraldine Dawson, R A Bernier
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
Jul 2, 2016·Scientific Reports·Mohammed UddinStephen W Scherer
Nov 25, 2014·Nature Communications·B J O'RoakEvan E Eichler
Apr 6, 2019·Bioinformatics·Alberto MagiAlessandro Maria Vannucchi
Aug 24, 2012·Nature·Ewen Callaway
Aug 24, 2012·Nature·Alexey Kondrashov
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
May 14, 2014·Journal of Neural Transmission·Regina WaltesAndreas G Chiocchetti
Feb 5, 2014·Journal of Neural Transmission·Andreas G ChiocchettiChristine M Freitag
Apr 9, 2015·European Child & Adolescent Psychiatry·Sarah HohmannTobias Banaschewski
Dec 21, 2014·Journal of Autism and Developmental Disorders·Esther Vierck, Jeremy M Silverman
Mar 23, 2015·Journal of Autism and Developmental Disorders·Kristen Gillespie-LynchDavid Shane Smith
Jan 1, 2013·G3 : Genes - Genomes - Genetics·Aparna PrasadStephen W Scherer
Dec 22, 2012·Expert Review of Molecular Diagnostics·Geert Vandeweyer, R F Kooy
Dec 21, 2012·Clinical and Translational Science·Robert SherwinTesheia Johnson
Mar 22, 2013·Biology of Reproduction·Jamila R MomandChristi A Walter
May 29, 2019·Current Opinion in Neurology·Moe NakanishiToru Takumi
Oct 18, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Matthew SchreiberDebby Tsuang
Oct 25, 2013·Autism Research : Official Journal of the International Society for Autism Research·Jernej KovačTadej Battelino
Nov 14, 2018·Cold Spring Harbor Perspectives in Medicine·Stephan J Sanders
Jan 22, 2014·Development, Growth & Differentiation·Tomomi AidaKohichi Tanaka
Dec 5, 2013·Human Mutation·Isabelle TournierThierry Frebourg
Jan 1, 2014·Genes, Brain, and Behavior·O J VeatchJonathan L Haines
Jan 1, 2015·Molecular Systems Biology·Jingjing LiMichael Snyder
Jun 10, 2014·Autism Research : Official Journal of the International Society for Autism Research·Nelle LambertCatheline Vilain
Nov 18, 2014·Indian Journal of Human Genetics·Shreekantiah Umesh, Shamshul Haque Nizamie
Jun 3, 2015·Birth Defects Research. Part A, Clinical and Molecular Teratology·Daniel M WebberCharlotte Hobbs
Sep 4, 2015·American Journal of Medical Genetics. Part a·Anna MaruaniRichard Delorme
Mar 5, 2016·Indian Journal of Pediatrics·Shruthi SudarshanMadhulika Kabra
Mar 21, 2017·Journal of Medical Genetics·Xiaoming LiuJiao Chen
Aug 10, 2019·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Guang Yang, Alex Shcheglovitov
Aug 1, 2017·The Journal of Comparative Neurology·Kenneth W JohnsonJimcy Platholi
Jul 17, 2019·Cold Spring Harbor Perspectives in Medicine·Thomas W Frazier
Jan 2, 2018·Annals of the New York Academy of Sciences·Sonia Berrih-AkninNadine Dragin
Sep 25, 2019·Nature Medicine·Stephan J SandersCarrie E Bearden
Oct 28, 2016·Nature Neuroscience·Yehezkel Sztainberg, Huda Y Zoghbi
Jan 28, 2014·Genomics & Informatics·Shuoguo Wang, Jinchuan Xing
Oct 9, 2019·Molecular Genetics & Genomic Medicine·Ya-Sian ChangHaung-Tsung Kuo
Dec 20, 2019·DNA and Cell Biology·Xin ZhaoMin Wu
Dec 13, 2019·Journal of Human Genetics·Calvin P SjaardaMuhammad Ayub
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
Apr 12, 2015·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Marc Fakhoury
Nov 2, 2019·Molecular Psychiatry·Shiguo LiuJi-Song Guan
Aug 5, 2014·Nature Genetics·Kaitlin E SamochaMark J Daly
Oct 16, 2015·Acta Neuropathologica Communications·Jerzy WegielW Ted Brown
Jan 30, 2020·The Journal of General Physiology·Christopher H ThompsonAlfred L George
Oct 17, 2012·Clinical Chemistry·Jasmin H BavarvaHarold R Garner
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 20, 2019·Autism Research : Official Journal of the International Society for Autism Research·Weicheng DuanBo Xiong
Apr 6, 2020·Genes, Brain, and Behavior·Nicole M FisherColleen M Niswender
Sep 16, 2016·PLoS Genetics·Donald Freed, Jonathan Pevsner
May 9, 2020·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Stephen M Kanne, Somer L Bishop
Feb 7, 2015·Human Mutation·María Concepción Gil-RodríguezJuan Pié
Jan 17, 2016·BMC Bioinformatics·Lun-Ching ChangWei Chen
Oct 21, 2015·Journal of Neurochemistry·Orly ReinerKozo Kaibuchi
Jun 27, 2017·Molecular Autism·Michael V LombardoTiziano Pramparo
Nov 19, 2015·BMC Genomics·Gaganjot SidhuKulvinder S Gill
Apr 26, 2016·Development, Growth & Differentiation·Lihi Ben-Reuven, Orly Reiner
Nov 20, 2016·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Daniel S TyleeStephen J Glatt
Feb 20, 2016·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Jaqueline B SchuchLuciana Tovo-Rodrigues
Jul 11, 2019·Human Genomics·Ana R CardosoLuísa Azevedo
Jul 16, 2020·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Veronica B Searles QuickMatthew W State
Mar 1, 2013·Quantitative Biology·George I Mias, Michael Snyder
May 7, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Katharina V SchulzeMichael F Wangler
Nov 21, 2019·Aging·Sabah NisarMohammad Haris
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
Jun 4, 2015·Journal of Medical Ethics·Kevin R Smith
Jan 15, 2015·Journal of Medical Genetics·Min HeKai Wang
Mar 26, 2015·Journal of Medical Genetics·Philippe LemayZoha Kibar
Sep 16, 2020·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Yijia ZhangNa Zhang
Apr 6, 2017·Brain : a Journal of Neurology·Markus WolffRikke S Møller
Aug 29, 2014·PLoS Computational Biology·Frantisek HontiCaleb Webber
Feb 3, 2015·Molecular Ecology·Brent C Emerson, Michael J Hickerson
Apr 25, 2015·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·V V IlinskyP A Shatalov
Sep 16, 2015·Current Opinion in Pediatrics·Elise RobinsonSteven E Hyman
Jun 24, 2016·Journal of Medical Genetics·Jonatan HalvardsonLars Feuk
Feb 13, 2016·Genetics·Brunilda Balliu, Noah Zaitlen
May 27, 2016·Epilepsia·Ingo HelbigILAE Genetics Commission
Jul 14, 2016·Cellular and Molecular Life Sciences : CMLS·Akira GokoolparsadhIrina Voineagu
Jul 16, 2016·Autism Research : Official Journal of the International Society for Autism Research·Bàrbara TorricoClaudio Toma
Dec 14, 2016·Proceedings of the National Academy of Sciences of the United States of America·Xiao JiMaja Bucan
Oct 16, 2016·Prenatal Diagnosis·Jiani Yin, Christian P Schaaf
Nov 30, 2016·Genome Biology·Rocio Acuna-HidalgoAlexander Hoischen
Apr 21, 2017·Annual Review of Genomics and Human Genetics·Pauline ChasteBernie Devlin
Jul 9, 2017·Genome Medicine·Sara Ballouz, Jesse Gillis
Jun 7, 2017·Acta Neuropathologica·Merina VarghesePatrick R Hof
Jun 21, 2017·Journal of Autism and Developmental Disorders·Gal MeiriIdan Menashe
Sep 1, 2017·Journal of Autism and Developmental Disorders·Robin P Goin-KochelR A Bernier
Oct 14, 2017·Journal of Autism and Developmental Disorders·Eleonora NapoliStefano Vicari
Jan 13, 2018·Molecular Genetics and Genomics : MGG·Herman D Cortes, Rachel Wevrick
Aug 9, 2018·Brain Sciences·Jennifer F GardnerAndrew E Fry
Jul 10, 2018·Genome Biology and Evolution·Igor B RogozinAlejandro A Schaffer
Sep 19, 2018·Nature Communications·Martin N MullisIan M Ehrenreich
Feb 1, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Fangning GuThomas C Markello
Jan 18, 2019·PLoS Genetics·Matthew Jensen, Santhosh Girirajan
Feb 13, 2019·Molecular Biology and Evolution·Beth L Dumont
Apr 7, 2019·Molecular Psychiatry·Galya Monderer-RothkoffSagiv Shifman
Jun 17, 2019·Journal of Neurodevelopmental Disorders·Santosh KumarChengji J Zhou
Dec 5, 2019·NPJ Digital Medicine·Mohammed UddinMarc Woodbury-Smith
Jan 18, 2020·Nature Reviews. Disease Primers·Catherine LordJeremy Veenstra-VanderWeele
Jun 28, 2020·Journal of Autism and Developmental Disorders·Cindy SkinnerRoger E Stevenson