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Matthew State, MD, PhD

TitleProfessor & Chair, Department of Psychiatry
InstitutionUniversity of California San Francisco
DepartmentPsychiatry
Address401 Parnassus Ave.
San Francisco CA 94143
Phone415-476-7730
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    Collapse Biography 
    Collapse Education and Training
    Stanford University BA1984Political Science
    Stanford University M.D.1991School of Medicine
    UCLA Neuropsychiatric InstituteResidency 1995Psychiatry
    UCLA Neuropsychiatric InstituteFellowship 1997Child Psychiatry
    Yale UniversityPhD2001Department of Genetics
    Collapse Awards and Honors
    National Academy of Medicine2017Rhoda and Bernard Sarnat International Prize in Mental Health
    National Academies of Science, Engineering and Medicine2014National Academy of Medicine
    American Academy of Child and Adolescent Psychiatry2014Tarjan Award
    Brain and Behavior Research Foundation2012Ruane Prize
    Autism Speaks2015Annual Top 10 Autism Research Papers
    Brain and Behavior Research Foundation2014Annual Top 10 Major Discoveries by NARSAD Grantees
    Science Magazine2011Annual Top 10 Scientific Breakthroughs
    Science Magazine2005Annual Top 10 Scientific Breakthroughs

    Collapse Overview 
    Collapse Overview
    Matthew W. State MD, PhD, is a child psychiatrist and human geneticist studying pediatric neuropsychiatric syndromes. His lab focuses on gene discovery as a launching point for efforts to illuminate the biology of these conditions and to develop novel and more effective therapies.

    Dr. State received his undergraduate and medical degrees at Stanford University, completed his residency in psychiatry and fellowship in child psychiatry at the UCLA Neuropsychiatric Institute, and earned a PhD in genetics from Yale University working in the lab of David C Ward. He was on the faculty at Yale from 2001 to 2013 where he was the Donald J. Cohen Professor of Child Psychiatry, Psychiatry and Genetics and the Co-Founder and Co-Director of the Yale Program on Neurogenetics. He is currently the Oberndorf Family Distinguished Professor and Chair of Psychiatry at UCSF and Director of the Langley Porter Psychiatric Institute and Hospital.

    Dr. State's lab has played a leading role in demonstrating the contribution of rare and de novo variation to autism spectrum disorders (ASD), Tourette disorder (TD), and brain malformation syndromes. Recent work has contributed to the identification of dozens of ASD risk genes, the identification of the first high confidence TD genes, and has utilized systems biological approaches to characterize the spatial and temporal convergence of autism genes in developing human brain. Dr. State plays a leadership role in a number of national and international collaborative genomics studies of autism and Tourette disorder, including the Simons Simplex Collection Genomics Consortium, the Autism Sequencing Consortium, and the Tourette International Collaboration (TIC) on Genetics.

    Assistant Contact Information: Gigi Lopez, gigi,lopez@ucsf.edu, 415-476-7730


    Collapse Research 
    Collapse Research Activities and Funding
    2/7-Collaborative genomic studies of Tourette Disorder
    NIH/NIMH R01MH115963Jul 27, 2018 - Mar 31, 2023
    Role: Principal Investigator
    4/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 Exomes
    NIH/NIMH U01MH111662Apr 5, 2017 - Jan 31, 2022
    Role: Principal Investigator
    1/3 Multidimensional investigation of the etiology of autism spectrum disorder
    NIH/NIMH R01MH109901Aug 1, 2016 - Jun 30, 2019
    Role: Principal Investigator
    3/3 Integrative Genomic Analysis of Human Brain Development and Autism
    NIH/NIMH R01MH110928Jul 21, 2016 - Apr 30, 2020
    Role: Principal Investigator
    Integrating the genomics of Autism Spectrum Disorders(ASD) in consanguineous and idiopathic families
    NIH/NIMH R01MH102342May 8, 2015 - Feb 28, 2019
    Role: Co-Principal Investigator
    2/3-Identifying regulatory mutations that influence neuropsychiatric disease
    NIH/NIMH U01MH105575Sep 18, 2014 - May 31, 2019
    Role: Principal Investigator
    Transcriptional and Epigenetic Signatures of Human Brain Development and Autism
    NIH/NIMH U01MH103339Jun 15, 2014 - May 31, 2018
    Role: Co-Principal Investigator
    4/4 The Autism Sequencing Consortium: Autism gene discovery in >20,000 exomes
    NIH/NIMH U01MH100239Sep 1, 2013 - Jul 31, 2016
    Role: Principal Investigator
    Autism Genetics Phase II: Increasing representation of human diversity
    NIH/NIMH R01MH100027Mar 25, 2013 - Mar 31, 2023
    Role: Co-Principal Investigator
    2/8-Collaborative genomic studies of Tourette Disorder
    NIH/NIMH R01MH092289Sep 15, 2011 - Jun 30, 2014
    Role: Principal Investigator
    Genomic Profiling and Functional Mutation Analysis in Autism Spectrum Disorders
    NIH/NIMH RC2MH089956Sep 30, 2009 - Aug 31, 2012
    Role: Co-Principal Investigator
    The Role of SLITRK1 in Tourette and Related Disorders
    NIH/NINDS R01NS056276Sep 1, 2006 - Nov 30, 2011
    Role: Principal Investigator
    Molecular Cytogenetics and Tourette Disorder
    NIH/NINDS R01NS043520Jun 1, 2002 - Mar 31, 2007
    Role: Principal Investigator
    MOLECULAR APPROACHES TO CHILDHOOD PSYCHIATRIC DISORDERS
    NIH/NCRR K23RR016118May 1, 2002 - Apr 30, 2007
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Featured Publications
    Collapse Websites
    Collapse In The News
    Collapse Featured Videos

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
    List All   |   Timeline
    1. Sestan N, State MW. Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder. Neuron. 2018 Oct 24; 100(2):406-423. PMID: 30359605.
      View in: PubMed
    2. Fazel Darbandi S, Robinson Schwartz SE, Qi Q, Catta-Preta R, Pai EL, Mandell JD, Everitt A, Rubin A, Krasnoff RA, Katzman S, Tastad D, Nord AS, Willsey AJ, Chen B, State MW, Sohal VS, Rubenstein JLR. Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity. Neuron. 2018 Oct 11. PMID: 30318412.
      View in: PubMed
    3. Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Rep. 2018 Sep 25; 24(13):3441-3454.e12. PMID: 30257206.
      View in: PubMed
    4. Willsey AJ, Morris MT, Wang S, Willsey HR, Sun N, Teerikorpi N, Baum TB, Cagney G, Bender KJ, Desai TA, Srivastava D, Davis GW, Doudna J, Chang E, Sohal V, Lowenstein DH, Li H, Agard D, Keiser MJ, Shoichet B, von Zastrow M, Mucke L, Finkbeiner S, Gan L, Sestan N, Ward ME, Huttenhain R, Nowakowski TJ, Bellen HJ, Frank LM, Khokha MK, Lifton RP, Kampmann M, Ideker T, State MW, Krogan NJ. The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders. Cell. 2018 Jul 26; 174(3):505-520. PMID: 30053424.
      View in: PubMed
    5. Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder. Nat Genet. 2018 Apr 26. PMID: 29700473.
      View in: PubMed
    6. Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB. Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nat Neurosci. 2018 Mar 16. PMID: 29549319.
      View in: PubMed
    7. Fernandez TV, State MW, Pittenger C. Tourette disorder and other tic disorders. Handb Clin Neurol. 2018; 147:343-354. PMID: 29325623.
      View in: PubMed
    8. Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB. Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nat Neurosci. 2017 Dec; 20(12):1661-1668. PMID: 29184211.
      View in: PubMed
    9. Sousa AMM, Zhu Y, Raghanti MA, Kitchen RR, Onorati M, Tebbenkamp ATN, Stutz B, Meyer KA, Li M, Kawasawa YI, Liu F, Perez RG, Mele M, Carvalho T, Skarica M, Gulden FO, Pletikos M, Shibata A, Stephenson AR, Edler MK, Ely JJ, Elsworth JD, Horvath TL, Hof PR, Hyde TM, Kleinman JE, Weinberger DR, Reimers M, Lifton RP, Mane SM, Noonan JP, State MW, Lein ES, Knowles JA, Marques-Bonet T, Sherwood CC, Gerstein MB, Sestan N. Molecular and cellular reorganization of neural circuits in the human lineage. Science. 2017 11 24; 358(6366):1027-1032. PMID: 29170230.
      View in: PubMed
    10. Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788. PMID: 29100089.
      View in: PubMed
    11. Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A, Xing J, Sanders SJ, Mandell JD, Huang AY, Richer P, Smith L, Dong S, Samocha KE. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron. 2017 May 03; 94(3):486-499.e9. PMID: 28472652.
      View in: PubMed
    12. Georgitsi M, Willsey AJ, Mathews CA, State M, Scharf JM, Paschou P. The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery. Front Neurosci. 2016; 10:351. PMID: 27536211; PMCID: PMC4971013.
    13. Abdulkadir M, Tischfield JA, King RA, Fernandez TV, Brown LW, Cheon KA, Coffey BJ, de Bruijn SF, Elzerman L, Garcia-Delgar B, Gilbert DL, Grice DE, Hagstrøm J, Hedderly T, Heyman I, Hong HJ, Huyser C, Ibanez-Gomez L, Kim YK, Kim YS, Koh YJ, Kook S, Kuperman S, Lamerz A, Leventhal B, Ludolph AG, Madruga-Garrido M, Maras A, Messchendorp MD, Mir P, Morer A, Münchau A, Murphy TL, Openneer TJ, Plessen KJ, Rath JJ, Roessner V, Fründt O, Shin EY, Sival DA, Song DH, Song J, Stolte AM, Tübing J, van den Ban E, Visscher F, Wanderer S, Woods M, Zinner SH, State MW, Heiman GA, Hoekstra PJ, Dietrich A. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder. J Psychiatr Res. 2016 11; 82:126-35. PMID: 27494079; PMCID: PMC5026935 [Available on 11/01/17].
    14. Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al Sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017 04; 22(4):615-624. PMID: 27431290.
      View in: PubMed
    15. Krystal JH, Abi-Dargham A, Akbarian S, Arnsten AFT, Barch DM, Bearden CE, Braff DL, Brown ES, Bullmore ET, Carlezon WA, Carter CS, Cook EH, Daskalakis ZJ, DiLeone RJ, Duman RS, Grace AA, Hariri AR, Harrison PJ, Hiroi N, Kenny PJ, Kleinman JE, Krystal AD, Lewis DA, Lipska BK, Marder SR, Mason GF, Mathalon DH, McClung CA, McDougle CJ, McIntosh AM, McMahon FJ, Mirnics K, Monteggia LM, Narendran R, Nestler EJ, Neumeister A, O'Donovan MC, Öngür D, Pariante CM, Paulus MP, Pearlson G, Phillips ML, Pine DS, Pizzagalli DA, Pletnikov MV, Ragland JD, Rapoport JL, Ressler KJ, Russo SJ, Sanacora G, Sawa A, Schatzberg AF, Shaham Y, Shamay-Tsoory SG, Sklar P, State MW, Stein MB, Strakowski SM, Taylor SF, Turecki G, Turetsky BI, Weissman MM, Zachariou V, Zarate CA, Zubieta JK. Constance E. Lieber, Theodore R. Stanley, and the Enduring Impact of Philanthropy on Psychiatry Research. Biol Psychiatry. 2016 07 15; 80(2):84-86. PMID: 27346079.
      View in: PubMed
    16. Hoffman EJ, Turner KJ, Fernandez JM, Cifuentes D, Ghosh M, Ijaz S, Jain RA, Kubo F, Bill BR, Baier H, Granato M, Barresi MJ, Wilson SW, Rihel J, State MW, Giraldez AJ. Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2. Neuron. 2016 Feb 17; 89(4):725-33. PMID: 26833134.
      View in: PubMed
    17. The PsychENCODE project. Nat Neurosci. 2015 Dec; 18(12):1707-12. PMID: 26605881.
      View in: PubMed
    18. Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-1233. PMID: 26402605; PMCID: PMC4624267.
    19. Geschwind DH, State MW. Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol. 2015 Nov; 14(11):1109-20. PMID: 25891009; PMCID: PMC4694565.
    20. Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. Loss of d-catenin function in severe autism. Nature. 2015 Apr 02; 520(7545):51-6. PMID: 25807484; PMCID: PMC4383723.
    21. Cotney J, Muhle RA, Sanders SJ, Liu L, Willsey AJ, Niu W, Liu W, Klei L, Lei J, Yin J, Reilly SK, Tebbenkamp AT, Bichsel C, Pletikos M, Sestan N, Roeder K, State MW, Devlin B, Noonan JP. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat Commun. 2015 Mar 10; 6:6404. PMID: 25752243; PMCID: PMC4355952.
    22. Lin Z, Sanders SJ, Li M, Sestan N, State MW, Zhao H. A MARKOV RANDOM FIELD-BASED APPROACH TO CHARACTERIZING HUMAN BRAIN DEVELOPMENT USING SPATIAL-TEMPORAL TRANSCRIPTOME DATA. Ann Appl Stat. 2015 Mar; 9(1):429-451. PMID: 26877824.
      View in: PubMed
    23. Murdoch JD, Gupta AR, Sanders SJ, Walker MF, Keaney J, Fernandez TV, Murtha MT, Anyanwu S, Ober GT, Raubeson MJ, DiLullo NM, Villa N, Waqar Z, Sullivan C, Gonzalez L, Willsey AJ, Choe SY, Neale BM, Daly MJ, State MW. No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLoS Genet. 2015 Jan; 11(1):e1004852. PMID: 25621974; PMCID: PMC4306541.
    24. State MW, Geschwind DH. Leveraging genetics and genomics to define the causes of mental illness. Biol Psychiatry. 2015 Jan 01; 77(1):3-5. PMID: 25483342.
      View in: PubMed
    25. Willsey AJ, State MW. Autism spectrum disorders: from genes to neurobiology. Curr Opin Neurobiol. 2015 Feb; 30:92-9. PMID: 25464374; PMCID: PMC4586254.
    26. Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, Pradhan D, Song H, Ming GL, Gu X, Haddad G, Marchetto MC, Spitzer N, Passos-Bueno MR, State MW, Muotri AR. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Mol Psychiatry. 2015 Nov; 20(11):1350-65. PMID: 25385366; PMCID: PMC4427554.
    27. Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13; 515(7526):216-21. PMID: 25363768; PMCID: PMC4313871.
    28. De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15. PMID: 25363760.
      View in: PubMed
    29. Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, Waqar Z, Gonzalez LE, Overton JD, Frahm S, Keaney JF, Teran NA, Dea J, Mandell JD, Hus Bal V, Sullivan CA, DiLullo NM, Khalil RO, Gockley J, Yuksel Z, Sertel SM, Ercan-Sencicek AG, Gupta AR, Mane SM, Sheldon M, Brooks AI, Roeder K, Devlin B, State MW, Wei L, Sanders SJ. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Rep. 2014 Oct 09; 9(1):16-23. PMID: 25284784.
      View in: PubMed
    30. Pauls DL, Fernandez TV, Mathews CA, State MW, Scharf JM. The Inheritance of Tourette Disorder: A review. J Obsessive Compuls Relat Disord. 2014 Oct 01; 3(4):380-385. PMID: 25506544.
      View in: PubMed
    31. Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH, Devlin B. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biol Psychiatry. 2015 May 01; 77(9):775-84. PMID: 25534755; PMCID: PMC4379124.
    32. Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res. 2014 Oct 24; 115(10):884-896. PMID: 25205790; PMCID: PMC4209190.
    33. Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH, Kim SJ. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res. 2014 Jun; 7(3):355-62. PMID: 24821083.
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    34. Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. Eur J Hum Genet. 2015 Feb; 23(2):165-72. PMID: 24781755; PMCID: PMC4297910.
    35. Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Sestan N, State MW. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Mol Autism. 2014; 5:31. PMID: 24860643; PMCID: PMC4032628.
    36. Dietrich A, Fernandez TV, King RA, State MW, Tischfield JA, Hoekstra PJ, Heiman GA. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods. Eur Child Adolesc Psychiatry. 2015 Feb; 24(2):141-51. PMID: 24771252; PMCID: PMC4209328.
    37. Tebbenkamp AT, Willsey AJ, State MW, Sestan N. The developmental transcriptome of the human brain: implications for neurodevelopmental disorders. Curr Opin Neurol. 2014 Apr; 27(2):149-56. PMID: 24565942; PMCID: PMC4038354.
    38. Krystal JH, State MW. Psychiatric disorders: diagnosis to therapy. Cell. 2014 Mar 27; 157(1):201-14. PMID: 24679536; PMCID: PMC4104191.
    39. Kim YS, State MW. Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. Int J Epidemiol. 2014 Apr; 43(2):465-75. PMID: 24618187; PMCID: PMC4047292.
    40. Liu L, Lei J, Sanders SJ, Willsey AJ, Kou Y, Cicek AE, Klei L, Lu C, He X, Li M, Muhle RA, Ma'ayan A, Noonan JP, Sestan N, McFadden KA, State MW, Buxbaum JD, Devlin B, Roeder K. DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Mol Autism. 2014 Mar 06; 5(1):22. PMID: 24602502; PMCID: PMC4016412.
    41. Volkmar F, Siegel M, Woodbury-Smith M, King B, McCracken J, State M. Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry. 2014 Feb; 53(2):237-57. PMID: 24472258.
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    90. Speed WC, O'Roak BJ, Tárnok Z, Barta C, Pakstis AJ, State MW, Kidd KK. Haplotype evolution of SLITRK1, a candidate gene for Gilles de la Tourette syndrome. Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 05; 147B(4):463-6. PMID: 18004766.
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    91. Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet. 2008 Jun; 82(6):1385. PMID: 18551756; PMCID: PMC2661627.
    92. Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet. 2008 May; 40(5):592-599. PMID: 18391953; PMCID: PMC3766631.
    93. Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics. 2008 May; 9(2):119-25. PMID: 18322713.
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    94. O'Roak BJ, State MW. Autism genetics: strategies, challenges, and opportunities. Autism Res. 2008 Feb; 1(1):4-17. PMID: 19360646.
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    96. Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. J Neurosurg. 2007 Dec; 107(6 Suppl):495-9. PMID: 18154020.
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    97. Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Hum Mutat. 2007 Dec; 28(12):1236-40. PMID: 17676595.
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    98. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007 Mar; 39(3):319-28. PMID: 17322880.
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    99. State MW. A surprising METamorphosis: autism genetics finds a common functional variant. Proc Natl Acad Sci U S A. 2006 Nov 07; 103(45):16621-2. PMID: 17075042; PMCID: PMC1636504.
    100. Gupta AR, State MW. Recent advances in the genetics of autism. Biol Psychiatry. 2007 Feb 15; 61(4):429-37. PMID: 16996486.
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    101. Gupta AR, State MW. [Autism: genetics]. Rev Bras Psiquiatr. 2006 May; 28 Suppl 1:S29-38. PMID: 16791389.
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    102. Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW, Chen W, Kittles RA, Goldstein SA. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006 Feb; 116(2):430-5. PMID: 16453024; PMCID: PMC1359045.
    103. Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science. 2005 Oct 14; 310(5746):317-20. PMID: 16224024.
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    104. Drazinic CM, Ercan-Sencicek AG, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW. Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23). Am J Med Genet A. 2005 Apr 30; 134(3):282-9. PMID: 15754353.
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    105. Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci U S A. 2005 Feb 22; 102(8):2975-9. PMID: 15684060; PMCID: PMC549488.
    106. Blair J, Scahill L, State M, Martin A. Electrocardiographic changes in children and adolescents treated with ziprasidone: a prospective study. J Am Acad Child Adolesc Psychiatry. 2005 Jan; 44(1):73-9. PMID: 15608546.
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    107. Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13. Am J Hum Genet. 2005 Jan; 76(1):172-9. PMID: 15540160; PMCID: PMC1196421.
    108. Cuker A, State MW, King RA, Davis N, Ward DC. Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22. Am J Med Genet A. 2004 Sep 15; 130A(1):37-9. PMID: 15368493.
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    109. Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet. 2004 Jun; 74(6):1286-93. PMID: 15106122; PMCID: PMC1182094.
    110. State MW, Greally JM, Cuker A, Bowers PN, Henegariu O, Morgan TM, Gunel M, DiLuna M, King RA, Nelson C, Donovan A, Anderson GM, Leckman JF, Hawkins T, Pauls DL, Lifton RP, Ward DC. Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proc Natl Acad Sci U S A. 2003 Apr 15; 100(8):4684-9. PMID: 12682296; PMCID: PMC153616.
    111. Moltedo JM, Porter GA, State MW, Snyder CS. Sinus node dysfunction associated with lithium therapy in a child. Tex Heart Inst J. 2002; 29(3):200-2. PMID: 12224723; PMCID: PMC124759.