Thomas V Fernandez, MD

Assistant Professor in the Child Study Center and of Psychiatry

Research Interests

Anxiety Disorders; Child Psychiatry; Genetics; Genetics, Behavioral; Tourette Syndrome; Obsessive-Compulsive Disorder; Psychiatry; Tic Disorders; Stereotypic Movement Disorder

Public Health Interests

Behavioral Health; Child Mental Health; Clinical Trials; Human genetic data; Mental Health; Psychiatric Disturbances

Research Organizations

Child Study Center: Tic Disorder & Obsessive Compulsive Disorder Program

Psychiatry: Obsessive Compulsive Disorder Research Clinic

Research Summary

Dr. Fernandez's research aims to uncover the genetic and epigenetic basis of multiple childhood neuropsychiatric disorders, including Obsessive-Compulsive Disorder (OCD), ADHD, anxiety disorders, Tourette Syndrome, chronic tic disorders, motor stereotypies, and autism spectrum disorders. The overall goal is to advance our understanding of the biology of these disorders and to improve diagnosis and treatment.

Extensive Research Description

Dr. Fernandez's current focus is to discover which combinations of genes are underlying risk for these disorders in individuals and extended families. There are multiple pathways to this type of discovery, including identification of discrete genetic sequence changes in those with disease (using whole-exome and whole-genome DNA sequencing), detecting deletions and duplications that encompass larger regions of human chromosomes (using DNA sequencing and microarray technologies), and finding markers on DNA that regulate gene expression but do not alter the genetic sequence or structure (i.e. epigenetic markers that are dynamic throughout development). The end goal of this research is to identify networks of genes that increase risk for illness and teach us larger lessons about underlying disease biology that can be leveraged for improving diagnosis and treatment.

Selected Publications

  • De Novo Coding Variants Are Strongly Associated with Tourette Disorder.

    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, Neale BM, Coppola G, Mathews CA, Tischfield JA, Scharf JM, State MW, Heiman GA. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron 2017, 94:486-499.e9.

  • Motor Stereotypies: A Pathophysiological Review Péter Z, Oliphant ME, Fernandez TV (2017). Motor Stereotypies: A Pathophysiological Review. Frontiers in Neuroscience. Mar 29.
  • Prenatal and Perinatal Risk Factors and the Promise of Birth Cohort Studies: Origins of Obsessive-Compulsive Disorder.

    Fernandez TV, Leckman JF. Prenatal and Perinatal Risk Factors and the Promise of Birth Cohort Studies: Origins of Obsessive-Compulsive Disorder. JAMA Psychiatry 2016, 73:1117-1118.

  • The Origins of Tourette Syndrome: Prenatal Risk Factors and the Promise of Birth Cohort Studies.

    Leckman JF, Fernandez TV. The Origins of Tourette Syndrome: Prenatal Risk Factors and the Promise of Birth Cohort Studies. Journal Of The American Academy Of Child And Adolescent Psychiatry 2016, 55:751-3.

  • Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways.

    Cappi C, Brentani H, Lima L, Sanders SJ, Zai G, Diniz BJ, Reis VN, Hounie AG, Conceição do Rosário M, Mariani D, Requena GL, Puga R, Souza-Duran FL, Shavitt RG, Pauls DL, Miguel EC, Fernandez TV. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Translational Psychiatry 2016, 6:e764.

  • What Makes You Tic? A New Lead in Tourette Syndrome Genetics.

    Fernandez TV. What Makes You Tic? A New Lead in Tourette Syndrome Genetics. Biological Psychiatry 2016, 79:341-342.

  • Tourette Syndrome: Bridging the Gap between Genetics and Biology.

    Richer P, Fernandez TV. Tourette Syndrome: Bridging the Gap between Genetics and Biology. Molecular Neuropsychiatry 2015, 1:156-164.

  • Tourette's syndrome and translational clinical science.

    Fernandez TV, King RA, Pittenger C. Tourette's syndrome and translational clinical science. Journal Of The American Academy Of Child And Adolescent Psychiatry 2015, 54:6-8.

  • Transcriptome Analysis of the Human Striatum in Tourette Syndrome.

    Lennington JB, Coppola G, Kataoka-Sasaki Y, Fernandez TV, Palejev D, Li Y, Huttner A, Pletikos M, Sestan N, Leckman JF, Vaccarino FM. Transcriptome Analysis of the Human Striatum in Tourette Syndrome. Biological Psychiatry 2016, 79:372-382.

  • Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism.

    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, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. Biological Psychiatry 2012, 71:392-402.

  • Genome-wide association study of Tourette's syndrome.

    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, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ, Pauls DL. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry 2013, 18:721-8.

  • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

    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, 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, 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, 70:863-85.

  • L-histidine decarboxylase and Tourette's syndrome.

    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, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW. L-histidine decarboxylase and Tourette's syndrome. The New England Journal Of Medicine 2010, 362:1901-8.

  • Please see CV for full listing of publications

Full List of PubMed Publications

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Contact Info

Thomas V Fernandez, MD
Patient Care Location
Yale Child Study CenterNieson Irving Harris Building
230 South Frontage Road

New Haven, CT 06519
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Mailing Address
PO Box 207900
New Haven, CT 06520-7900