Kaya Bilguvar, MD

Assistant Professor of Genetics; Associate Director, Yale Center for Genome Analysis

Research Departments & Organizations

Brain Tumor Research

Office of Cooperative Research

Research Interests

Cerebrovascular Disorders; Malformations of Cortical Development; Migraine Disorders; Neurodegenerative Diseases

Extensive Research Description

  • Genetic basis of malformations of human cortical development
  • Identification of rare and common genetic variants in intracranial aneurysms
  • Molecular genetics and biology of childhood-onset neurodegenerative disorders
  • Genetics of brain tumors

Selected Publications

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

    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. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:237-41. 2012

  • Recessive LAMC3 mutations cause malformations of occipital cortical development.

    Barak T, Kwan KY, Louvi A, Demirbilek V, Saygi S, Tüysüz B, Choi M, Boyaci H, Doerschner K, Zhu Y, Kaymakçalan H, Yilmaz S, Bakircioglu M, Caglayan AO, Oztürk AK, Yasuno K, Brunken WJ, Atalar E, Yalçinkaya C, Dinçer A, Bronen RA, Mane S, Ozçelik T, Lifton RP, Sestan N, Bilgüvar K, Günel M. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics 2011, 43:590-4. 2011

  • Genome-wide association study of intracranial aneurysm identifies three new risk loci.

    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, Oszvald A, Kasuya H, Zilani G, Schoch B, Singh P, Stüer C, Risselada R, Beck J, Sola T, Ricciardi F, Aromaa A, Illig T, Schreiber S, van Duijn CM, van den Berg LH, Perret C, Proust C, Roder C, Ozturk AK, Gaál E, Berg D, Geisen C, Friedrich CM, Summers P, Frangi AF, State MW, Wichmann HE, Breteler MM, Wijmenga C, Mane S, Peltonen L, Elio V, Sturkenboom MC, Lawford P, Byrne J, Macho J, Sandalcioglu EI, Meyer B, Raabe A, Steinmetz H, Rüfenacht D, Jääskeläinen JE, Hernesniemi J, Rinkel GJ, Zembutsu H, Inoue I, Palotie A, Cambien F, Nakamura Y, Lifton RP, Günel M. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nature Genetics 2010, 42:420-5. 2010

  • Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

    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, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandas S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010, 467:207-10. 2010

  • Susceptibility loci for intracranial aneurysm in European and Japanese populations.

    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 A, Hata A, Kasuya H, Koivisto T, Rinne J, Ohman J, Breteler MM, Wijmenga C, State MW, Rinkel GJ, Hernesniemi J, Jääskeläinen JE, Palotie A, Inoue I, Lifton RP, Günel M. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics 2008, 40:1472-7. 2008

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Contact Info

Kaya Bilguvar, MD
Lab Location
The Anlyan Center
300 Cedar Street, Ste S330

New Haven, CT 06519
Office Locations
Yale Center for Genome AnalysisWest Campus
100 West Campus Drive, Ste 830 West Campus Drive

Orange, CT 06477
The Anlyan Center
300 Cedar Street, Ste S311

New Haven, CT 06519
Mailing Addresses
830 West Campus Drive
Orange, CT 06477
300 Heffernan Drive B36
West Haven, CT 06516