Matthew State, MD, PhD
Professor & Chair
Psychiatry
School of Medicine

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

• A foundational atlas of autism protein interactions reveals molecular convergence.
  bioRxiv : the preprint server for biology 2024 Wang B, Vartak R, Zaltsman Y, Naing ZZC, Hennick KM, Polacco BJ, Bashir A, Eckhardt M, Bouhaddou M, Xu J, Sun N, Lasser MC, Zhou Y, McKetney J, Guiley KZ, Chan U, Kaye JA, Chadha N, Cakir M, Gordon M,…
• Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.
  Nature communications 2023 Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C, Tourette International Collaborative Genetics (TIC Genetics), Bal VH, Langley K, Martin J, Hoekstra PJ, Dietrich A, Xing J, …
• Pleiotropy of autism-associated chromatin regulators.
  Development (Cambridge, England) 2023 Lasser M, Sun N, Xu Y, Wang S, Drake S, Law K, Gonzalez S, Wang B, Drury V, Castillo O, Zaltsman Y, Dea J, Bader E, McCluskey KE, State MW, Willsey AJ, Willsey HR
• New and emerging approaches to treat psychiatric disorders.
  Nature medicine 2023 Scangos KW, State MW, Miller AH, Baker JT, Williams LM
• In Search of Biomarkers to Guide Interventions in Autism Spectrum Disorder: A Systematic Review.
  The American journal of psychiatry 2022 Parellada M, Andreu-Bernabeu Á, Burdeus M, San José Cáceres A, Urbiola E, Carpenter LL, Kraguljac NV, McDonald WM, Nemeroff CB, Rodriguez CI, Widge AS, State MW, Sanders SJ
• Genomics, convergent neuroscience and progress in understanding autism spectrum disorder.
  Nature reviews. Neuroscience 2022 Willsey HR, Willsey AJ, Wang B, State MW
• Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.
  Cell reports 2021 Markenscoff-Papadimitriou E, Binyameen F, Whalen S, Price J, Lim K, Ypsilanti AR, Catta-Preta R, Pai EL, Mu X, Xu D, Pollard KS, Nord AS, State MW, Rubenstein JL
• Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience.
  Neuron 2021 Willsey HR, Exner CRT, Xu Y, Everitt A, Sun N, Wang B, Dea J, Schmunk G, Zaltsman Y, Teerikorpi N, Kim A, Anderson AS, Shin D, Seyler M, Nowakowski TJ, Harland RM, Willsey AJ, State MW
• A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders.
  European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2021 Díaz-Caneja CM, State MW, Hagerman RJ, Jacquemont S, Marín O, Bagni C, Umbricht D, Simonoff E, de Andrés-Trelles F, Kaale A, Pandina G, Gómez-Mancilla B, Wang PP, Cusak J, Siafis S, Leucht S, …
• Autism Spectrum Disorder Genetics and the Search for Pathological Mechanisms.
  The American journal of psychiatry 2021 Manoli DS, State MW
• Correction: The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos.
  Development (Cambridge, England) 2020 Willsey HR, Xu Y, Everitt A, Dea J, Exner CRT, Willsey AJ, State MW, Harland RM
• Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders.
  Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2020 Searles Quick VB, Wang B, State MW
• A Chromatin Accessibility Atlas of the Developing Human Telencephalon.
  Cell 2020 Markenscoff-Papadimitriou E, Whalen S, Przytycki P, Thomas R, Binyameen F, Nowakowski TJ, Kriegstein AR, Sanders SJ, State MW, Pollard KS, Rubenstein JL
• The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos.
  Development (Cambridge, England) 2020 Willsey HR, Xu Y, Everitt A, Dea J, Exner CRT, Willsey AJ, State MW, Harland RM
• Enhancing WNT Signaling Restores Cortical Neuronal Spine Maturation and Synaptogenesis in Tbr1 Mutants.
  Cell reports 2020 Fazel Darbandi S, Robinson Schwartz SE, Pai EL, Everitt A, Turner ML, Cheyette BNR, Willsey AJ, State MW, Sohal VS, Rubenstein JLR
• Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex.
  Cell reports 2020 Werling DM, Pochareddy S, Choi J, An JY, Sheppard B, Peng M, Li Z, Dastmalchi C, Santpere G, Sousa AMM, Tebbenkamp ATN, Kaur N, Gulden FO, Breen MS, Liang L, Gilson MC, Zhao X, Dong S, Klei L, Cicek …
• Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
  Cell 2020 Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, Peng M, Collins R, Grove J, Klei L, Stevens C, Reichert J, Mulhern MS, Artomov M, Gerges S, Sheppard B, Xu X, Bhaduri A, Norman U, …
• Autism spectrum disorder.
  Nature reviews. Disease primers 2020 Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, Jones EJH, Jones RM, Pickles A, State MW, Taylor JL, Veenstra-VanderWeele J
• De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
  Cell reports 2018 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, …
• Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.
  Science (New York, N.Y.) 2018 An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy…
• Integrative functional genomic analysis of human brain development and neuropsychiatric risks.
  Science (New York, N.Y.) 2018 Li M, Santpere G, Imamura Kawasawa Y, Evgrafov OV, Gulden FO, Pochareddy S, Sunkin SM, Li Z, Shin Y, Zhu Y, Sousa AMM, Werling DM, Kitchen RR, Kang HJ, Pletikos M, Choi J, Muchnik S, Xu X, Wang D, …
• Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder.
  Neuron 2018 Sestan N, State MW
• Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity.
  Neuron 2018 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
• Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.
  Nature neuroscience 2018 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, …
• An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
  Nature genetics 2018 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, …
• Tourette disorder and other tic disorders.
  Handbook of clinical neurology 2018 Fernandez TV, State MW, Pittenger C
• Whole genome sequencing in psychiatric disorders: the WGSPD consortium.
  Nature neuroscience 2017 Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Whole Genome Sequencing for Psychiatric Disorders (WGSPD), Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, …
• Molecular and cellular reorganization of neural circuits in the human lineage.
  Science (New York, N.Y.) 2017 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…
• De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
  American journal of human genetics 2017 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…
• The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery.
  Frontiers in neuroscience 2016 Georgitsi M, Willsey AJ, Mathews CA, State M, Scharf JM, Paschou P
• Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder.
  Journal of psychiatric research 2016 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,…
• Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
  Molecular psychiatry 2016 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, …
• Constance E. Lieber, Theodore R. Stanley, and the Enduring Impact of Philanthropy on Psychiatry Research.
  Biological psychiatry 2016 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, …
• Mental disorders of known aetiology and precision medicine in psychiatry: a promising but neglected alliance.
  Psychological medicine 2016 Fraguas D, Díaz-Caneja CM, State MW, O'Donovan MC, Gur RE, Arango C
• The PsychENCODE project.
  Nature neuroscience 2015 PsychENCODE Consortium, Akbarian S, Liu C, Knowles JA, Vaccarino FM, Farnham PJ, Crawford GE, Jaffe AE, Pinto D, Dracheva S, Geschwind DH, Mill J, Nairn AC, Abyzov A, Pochareddy S, Prabhakar S, …
• Gene hunting in autism spectrum disorder: on the path to precision medicine.
  The Lancet. Neurology 2015 Geschwind DH, State MW
• Loss of δ-catenin function in severe autism.
  Nature 2015 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, …
• The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.
  Nature communications 2015 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
• A MARKOV RANDOM FIELD-BASED APPROACH TO CHARACTERIZING HUMAN BRAIN DEVELOPMENT USING SPATIAL-TEMPORAL TRANSCRIPTOME DATA.
  The annals of applied statistics 2015 Lin Z, Sanders SJ, Li M, Sestan N, State MW, Zhao H
• 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 genetics 2015 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, …
• Leveraging genetics and genomics to define the causes of mental illness.
  Biological psychiatry 2015 State MW, Geschwind DH
• Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.
  Molecular psychiatry 2014 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…
• Synaptic, transcriptional and chromatin genes disrupted in autism.
  Nature 2014 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, …
• De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
  Cell reports 2014 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…
• The Inheritance of Tourette Disorder: A review.
  Journal of obsessive-compulsive and related disorders 2014 Pauls DL, Fernandez TV, Mathews CA, State MW, Scharf JM
• A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
  Biological psychiatry 2014 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, …
• Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
  Circulation research 2014 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 …
• Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
  Autism research : official journal of the International Society for Autism Research 2014 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, …
• Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
  European journal of human genetics : EJHG 2014 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 …
• Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
  Molecular autism 2014 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…
• The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.
  European child & adolescent psychiatry 2014 Dietrich A, Fernandez TV, King RA, State MW, Tischfield JA, Hoekstra PJ, Heiman GA, TIC Genetics Collaborative Group
• The developmental transcriptome of the human brain: implications for neurodevelopmental disorders.
  Current opinion in neurology 2014 Tebbenkamp AT, Willsey AJ, State MW, Sestan N
• Psychiatric disorders: diagnosis to therapy.
  Cell 2014 Krystal JH, State MW
• Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.
  International journal of epidemiology 2014 Kim YS, State MW
• DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics.
  Molecular autism 2014 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
• Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder.
  Journal of the American Academy of Child and Adolescent Psychiatry 2014 Volkmar F, Siegel M, Woodbury-Smith M, King B, McCracken J, State M, American Academy of Child and Adolescent Psychiatry (AACAP) Committee on Quality Issues (CQI)
• Histidine decarboxylase deficiency causes tourette syndrome: parallel findings in humans and mice.
  Neuron 2014 Baldan LC, Williams KA, Gallezot JD, Pogorelov V, Rapanelli M, Crowley M, Anderson GM, Loring E, Gorczyca R, Billingslea E, Wasylink S, Panza KE, Ercan-Sencicek AG, Krusong K, Leventhal BL, Ohtsu H, …
• Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
  PLoS genetics 2013 He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K
• Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
  Nature genetics 2013 Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F,…
• Mutations in DSTYK and dominant urinary tract malformations.
  The New England journal of medicine 2013 Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, …
• Intellectual disability is associated with increased runs of homozygosity in simplex autism.
  American journal of human genetics 2013 Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M, Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH, Devlin B, Morrow …
• Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.
  Biological psychiatry 2013 Chaste P, Klei L, Sanders SJ, 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, Lese Martin C, Martin DM, Morrow EM, …
• High rate of disease-related copy number variations in childhood onset schizophrenia.
  Molecular psychiatry 2013 Ahn K, Gotay N, Andersen TM, Anvari AA, Gochman P, Lee Y, Sanders S, Guha S, Darvasi A, Glessner JT, Hakonarson H, Lencz T, State MW, Shugart YY, Rapoport JL
• De novo mutations in histone-modifying genes in congenital heart disease.
  Nature 2013 Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, …
• Recent developments in the genetics of autism spectrum disorders.
  Current opinion in genetics & development 2013 Murdoch JD, State MW
• Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.
  Science (New York, N.Y.) 2013 Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avsar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yilmaz B, Grady C, Tanrikulu B, Bakircioglu M, Kaymakçalan H, …
• Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
  Neuron 2013 Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu …
• Using whole-exome sequencing to identify inherited causes of autism.
  Neuron 2013 Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, …
• The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.
  Neuron 2012 Buxbaum JD, Daly MJ, Devlin B, Lehner T, Roeder K, State MW, Autism Sequencing Consortium
• Copy-number disorders are a common cause of congenital kidney malformations.
  American journal of human genetics 2012 Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi …
• Common genetic variants, acting additively, are a major source of risk for autism.
  Molecular autism 2012 Klei L, Sanders SJ, 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 CL, Martin DM, Morrow EM, Walsh CA, Melhem …
• Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.
  Molecular psychiatry 2012 Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH
• Neuroscience. The emerging biology of autism spectrum disorders.
  Science (New York, N.Y.) 2012 State MW, Šestan N
• Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
  Science (New York, N.Y.) 2012 Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, …
• Genome-wide association study of Tourette's syndrome.
  Molecular psychiatry 2012 Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, …
• Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.
  American journal of human genetics 2012 Luo R, Sanders SJ, Tian Y, Voineagu I, Huang N, Chu SH, Klei L, Cai C, Ou J, Lowe JK, Hurles ME, Devlin B, State MW, Geschwind DH
• A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.
  American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012 Griesi-Oliveira K, Moreira Dde P, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR
• De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
  Nature 2012 Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, …
• Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.
  Brain & development 2011 Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL
• Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.
  Biological psychiatry 2011 Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, …
• The conundrums of understanding genetic risks for autism spectrum disorders.
  Nature neuroscience 2011 State MW, Levitt P
• Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
  Human molecular genetics 2011 Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW…
• Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
  Neuron 2011 Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, …
• The erosion of phenotypic specificity in psychiatric genetics: emerging lessons from CNTNAP2.
  Biological psychiatry 2011 State MW
• High levels of histidine decarboxylase in the striatum of mice and rats.
  Neuroscience letters 2011 Krusong K, Ercan-Sencicek AG, Xu M, Ohtsu H, Anderson GM, State MW, Pittenger C
• Recent advances in Tourette syndrome.
  Current opinion in neurology 2011 Bloch M, State M, Pittenger C
• The genetics of Tourette disorder.
  Current opinion in genetics & development 2011 State MW
• The genetics of child psychiatric disorders: focus on autism and Tourette syndrome.
  Neuron 2010 State MW
• Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
  Nature 2010 Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoglu D, Tüysüz B, Caglayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioglu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, …
• Another piece of the autism puzzle.
  Nature genetics 2010 State MW
• Progress in cytogenetics: implications for child psychopathology.
  Journal of the American Academy of Child and Adolescent Psychiatry 2010 Hoffman EJ, State MW
• Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome.
  Clinical genetics 2010 Bayrakli F, Bilguvar K, Ceyhan D, Ercan-Sencicek AG, Cankaya T, Bayrakli S, Guney I, Mane SM, State MW, Gunel M
• Genome-wide association study of intracranial aneurysm identifies three new risk loci.
  Nature genetics 2010 Yasuno K, Bilguvar K, Bijlenga P, Low SK, Krischek B, Auburger G, Simon M, Krex D, Arlier Z, Nayak N, Ruigrok YM, Niemelä M, Tajima A, von und zu Fraunberg M, Dóczi T, Wirjatijasa F, Hata A, Blasco J,…
• A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin.
  American journal of medical genetics. Part A 2010 Erturk O, Bilguvar K, Korkmaz B, Bayri Y, Bayrakli F, Arlier Z, Ozturk AK, Yalcinkaya C, Tuysuz B, State MW, Gunel M
• Additional support for the association of SLITRK1 var321 and Tourette syndrome.
  Molecular psychiatry 2010 O'Roak BJ, Morgan TM, Fishman DO, Saus E, Alonso P, Gratacòs M, Estivill X, Teltsh O, Kohn Y, Kidd KK, Cho J, Lifton RP, State MW
• The genetics of autism: key issues, recent findings, and clinical implications.
  The Psychiatric clinics of North America 2010 El-Fishawy P, State MW
• Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.
  Neurogenetics 2010 Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M
• The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15.
  American journal of medical genetics. Part A 2009 Bilguvar K, Ozturk AK, Bayrakli F, Guzel A, DiLuna ML, Bayri Y, Tatli M, Tekes S, Arlier Z, Yasuno K, Mason CE, Lifton RP, State MW, Gunel M
• A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.
  Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2009 Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M
• Functional and evolutionary insights into human brain development through global transcriptome analysis.
  Neuron 2009 Johnson MB, Kawasawa YI, Mason CE, Krsnik Z, Coppola G, Bogdanovic D, Geschwind DH, Mane SM, State MW, Sestan N
• Common genetic variants on 5p14.1 associate with autism spectrum disorders.
  Nature 2009 Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere…
• Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome.
  The Journal of comparative neurology 2009 Stillman AA, Krsnik Z, Sun J, Rasin MR, State MW, Sestan N, Louvi A
• Autism and autism spectrum disorders: diagnostic issues for the coming decade.
  Journal of child psychology and psychiatry, and allied disciplines 2009 Volkmar FR, State M, Klin A
• Susceptibility loci for intracranial aneurysm in European and Japanese populations.
  Nature genetics 2008 Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, Ronkainen A, Tajima A, Laakso…
• Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.
  American journal of medical genetics. Part A 2008 Fernandez TV, García-González IJ, Mason CE, Hernández-Zaragoza G, Ledezma-Rodríguez VC, Anguiano-Alvarez VM, E'Vega R, Gutiérrez-Angulo M, Maya ML, García-Bejarano HE, González-Cruz M, Barrios S, …
• Haplotype evolution of SLITRK1, a candidate gene for Gilles de la Tourette syndrome.
  American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008 Speed WC, O'Roak BJ, Tárnok Z, Barta C, Pakstis AJ, State MW, Kidd KK
• Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.
  American journal of human genetics 2008 Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW
• Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
  Nature genetics 2008 Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP
• Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.
  Neurogenetics 2008 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
• Autism genetics: strategies, challenges, and opportunities.
  Autism research : official journal of the International Society for Autism Research 2008 O'Roak BJ, State MW
• Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
  American journal of human genetics 2008 Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel…
• A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
  Journal of neurosurgery 2007 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
• Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.
  Human mutation 2007 Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M
• Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
  Nature genetics 2007 Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, …
• A surprising METamorphosis: autism genetics finds a common functional variant.
  Proceedings of the National Academy of Sciences of the United States of America 2006 State MW
• Recent advances in the genetics of autism.
  Biological psychiatry 2006 Gupta AR, State MW
• [Autism: genetics].
  Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) 2006 Gupta AR, State MW
• A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y.
  The Journal of clinical investigation 2006 Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW, Chen W, Kittles RA, Goldstein SA
• Sequence variants in SLITRK1 are associated with Tourette's syndrome.
  Science (New York, N.Y.) 2005 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, …
• Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23).
  American journal of medical genetics. Part A 2005 Drazinic CM, Ercan-Sencicek AG, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW
• Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.
  Proceedings of the National Academy of Sciences of the United States of America 2005 Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP
• Electrocardiographic changes in children and adolescents treated with ziprasidone: a prospective study.
  Journal of the American Academy of Child and Adolescent Psychiatry 2005 Blair J, Scahill L, State M, Martin A
• Mapping a Mendelian form of intracranial aneurysm to 1p34.3-p36.13.
  American journal of human genetics 2004 Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M
• Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22.
  American journal of medical genetics. Part A 2004 Cuker A, State MW, King RA, Davis N, Ward DC
• Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.
  American journal of human genetics 2004 Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW
• Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype.
  Proceedings of the National Academy of Sciences of the United States of America 2003 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
• Sinus node dysfunction associated with lithium therapy in a child.
  Texas Heart Institute journal 2002 Moltedo JM, Porter GA, State MW, Snyder CS
• Tourette's syndrome and related disorders.
  Child and adolescent psychiatric clinics of North America 2001 State MW, Pauls DL, Leckman JF
• The genetics of childhood psychiatric disorders: a decade of progress.
  Journal of the American Academy of Child and Adolescent Psychiatry 2000 State MW, Lombroso PJ, Pauls DL, Leckman JF
• Genetics of childhood disorders: XV. Prader-Willi syndrome: genes, brain, and behavior.
  Journal of the American Academy of Child and Adolescent Psychiatry 2000 State MW, Dykens EM
• Genetics of childhood disorders: XIII. Genomic imprinting: the indelible mark of the gamete.
  Journal of the American Academy of Child and Adolescent Psychiatry 2000 Greally JM, State MW
• Pharmacologic management of psychiatric and behavioral symptoms in mental retardation.
  Child and adolescent psychiatric clinics of North America 2000 Madrid AL, State MW, King BH
• Identification, chromosomal assignment, and expression analysis of the human homeodomain-containing gene Orthopedia (OTP).
  Genomics 1999 Lin X, State MW, Vaccarino FM, Greally J, Hass M, Leckman JF
• Obsessive-compulsive symptoms in Prader-Willi and "Prader-Willi-Like" patients.
  Journal of the American Academy of Child and Adolescent Psychiatry 1999 State MW, Dykens EM, Rosner B, Martin A, King BH
• Cerebrospinal fluid levels of oxytocin in Prader-Willi syndrome: a preliminary report.
  Biological psychiatry 1998 Martin A, State M, Anderson GM, Kaye WM, Hanchett JM, McConaha CW, North WG, Leckman JF
• Prader-Willi syndrome.
  The American journal of psychiatry 1998 Martin A, State M, Koenig K, Schultz R, Dykens EM, Cassidy SB, Leckman JF
• Effects of electroconvulsive therapy in adolescents with severe endogenous depression resistant to pharmacotherapy.
  Biological psychiatry 1998 Strober M, Rao U, DeAntonio M, Liston E, State M, Amaya-Jackson L, Latz S
• Mental retardation: a review of the past 10 years. Part I.
  Journal of the American Academy of Child and Adolescent Psychiatry 1997 King BH, State MW, Shah B, Davanzo P, Dykens E
• Mental retardation: a review of the past 10 years. Part II.
  Journal of the American Academy of Child and Adolescent Psychiatry 1997 State MW, King BH, Dykens E
• Eating themselves to death: have "personal rights" gone too far in treating people with Prader-Willi syndrome?
  Mental retardation 1997 Dykens EM, Goff BJ, Hodapp RM, Davis L, Devanzo P, Moss F, Halliday J, Shah B, State M, King B