Matthew W. State MD, PhD

Donald J. Cohen Professor (Adjunct) in the Child Study Center and Professor of Genetics and of Psychiatry; Co-Director, Yale Program on Neurogenetics

Research Interests

Genetic mechanisms; neuropsychiatric disorders of childhood


Research Summary

Our lab is interested in identifying and characterizing genes and genetic mechanisms involved in neuropsychiatric and neurodevelopmental disorders of childhood. Currently we are focused on Tourette syndrome (TS) and Obsessive Compulsive disorder (OCD), Autism and related pervasive developmental disorders, childhood onset schizophrenia and structural brain disorders. We have a long standing interest in the contribution of rare variation to these syndromes and focus on gene discovery as an avenue to elaborate molecular mechanisms of disease. We currently employ a range of approaches including traditional gene mapping in families demonstrating Mendelian inheritance, molecular cytogenetic analyses of de novo chromosomal rearrangements, and high throughput genomic approaches including genome wide copy number analyses and massively parallel sequencing.


Selected Publications

  • 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, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW (2012).De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945
  • 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, Davis Wright NR, Dhodapkar RM, Dicola M, Dilullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism, Neuron. 2011 Jun 9;70(5):863-85.
  • Bilguvar K, Ozturk AK, Louvi A, Kwan Ky, Choi M, Tatli B, Yalnizoglu D, Tuysuz B, Caglayan AO, Gokben S, Kaymakcalan H, Barak T, Bakircioglu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dincer A, Johnson MH, Bronen RA, Kocer N, Per H, Mane S, Pamir MN, Yalcinkaya C, Kumandas S, Topcu M, Ozmen M, Sestan N, Lifton RP, State MW, Gunel M. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 2010, 467(7312):207-210. PMID: 20729831
  • Ercan-Sencicek AG, Stillman AA, Ghosh Ak, Bilguvar K, O’Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandex T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW (2010). L-histidine decarboxylase and Tourette’s syndrome. New England Journal of Medicine. 362(20):1901-1908. PMCID: PMC2894694
  • 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 M, Lifton RP, State MW (2008). Molecular Cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 (CNTNAP2) in Autism Spectrum Disorders. American Journal of Human Genetics 82:165-173.
  • Abelson JF, Kwan K, O'Roak B, Baek D, Stillman A, Morgan TM, Mathews CA, Pauls DL, Mladen-Roko R, Gunel M, Davs 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 (2005) Sequence variants in SLITRK1 are associated with Tourette syndrome. Science 310:317-320

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