K
Kaya Bilguvar
Researcher at Yale University
Publications - 152
Citations - 19211
Kaya Bilguvar is an academic researcher from Yale University. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 48, co-authored 138 publications receiving 14032 citations. Previous affiliations of Kaya Bilguvar include Marmara University & Acıbadem University.
Papers
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Peer ReviewDOI
Author response: Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles
Andrew T. Timberlake,Jungmin Choi,Samir Zaidi,Qiongshi Lu,Carol Nelson-Williams,Eric D. Brooks,Kaya Bilguvar,Irina Tikhonova,Shrikant Mane,Jenny F. Yang,Rajendra Sawh-Martinez,Sarah Persing,Elizabeth G. Zellner,Erin Loring,Carolyn Chuang,Amy Galm,Peter W. Hashim,Derek M. Steinbacher,Michael L. DiLuna,Charles C. Duncan,Kevin A. Pelphrey,Hongyu Zhao,John A. Persing,Richard P. Lifton +23 more
Journal ArticleDOI
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Weilai Dong,Hande Kaymakçalan,Sheng Chih Jin,Nicholas S. Diab,Cansaran Tanidir,Ali Yalçın,A. Gulhan Ercan-Sencicek,Shrikant M. Mane,Murat Gunel,Richard P. Lifton,Kaya Bilguvar,Martina Brueckner +11 more
TL;DR: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts.
Patent
Assays for detecting wdr60 mutations
TL;DR: In this paper, the present invention relates to compositions and methods for detecting mutations in WD repeat domain 62 (WDR62) and is related to the present work of this paper.
Journal ArticleDOI
Omics and prognstic markers
Kazuhide Adachi,Hikaru Sasaki,Shinya Nagahisa,Kouichiro Yoshida,Natsuki Hattori,Yuya Nishiyama,Tsukasa Kawase,Mitsuhiro Hasegawa,Masato Abe,Yuichi Hirose,Agusti Alentorn,Y. Marie,Sylvie Poggioli,Hussa Alshehhi,Blandine Boisselier,Catherine Carpentier,Karima Mokhtari,Laurent Capelle,Dominique Figarella-Branger,Khê Hoang-Xuan,Marc Sanson,Jean-Yves Delattre,Ahmed Idbaih,Shlomit Yust-Katz,Mark Anderson,Adriana Olar,Agda Karina Eterovic,Nader Ezzeddine,Ken Chen,Hao Zhao,Gregory N. Fuller,Kenneth D. Aldape,John de Groot,Noemi Andor,Noemi Andor,Julie V. Harness,Sandra Gomez Lopez,Tang Ling Fung,Hans W. Mewes,Claudia Petritsch,Arimappamagan Arivazhagan,Kumaravel Somasundaram,Kandavel Thennarasu,Paritosh Pandey,B Anandh,Vani Santosh,Bangalore A. Chandramouli,Alangar S. Hegde,Paturu Kondaiah,Rao,Robert Bell,Robin Kang,Chibo Hong,Jun Song,Joseph Costello,Raman P. Nagarajan,Bo Zhang,Aaron Diaz,Ting Wang,Li Bie,Li Bie,Yunqian Li,Yiping Li,Haiyu Liu,Wilver Federico Carbonel Luyo,Michel Herranz Carnero,Maria Elena Padin Iruegas,Alvaro Ruibal Morell,Manuel Constenla Figueiras,Rafael López López,Concepcion Fiaño Valverde,Aden Ka-Yin Chan,Jesse Chung Sean Pang,Nellie Yuk Fei Chung,Kay Ka-Wai Li,Wai Sang Poon,Danny Tat Ming Chan,Yin Wang,Ho-and Keung Ng,Myriam M. Chaumeil,Peder E. Z. Larson,Hikari A. I. Yoshihara,Daniel B. Vigneron,Sarah J. Nelson,Russell O. Pieper,Joanna J. Phillips,Sabrina M. Ronen,Victoria E. Clark,Zeynep Erson Omay,Akdes Serin,Jennifer Moliterno Günel,Bulent Omay,Conor Grady,Mark W. Youngblood,Kaya Bilguvar,Joachim M. Baehring,Joseph M. Piepmeier,Philip H. Gutin,Alexander O. Vortmeyer,Cameron Brennan,M. Necmettin Pamir,Turker Kilic,Boris Krischek,Matthias Simon,Katsuhito Yasuno,Murat Gunel,Adam L. Cohen,Mariko Sato,Kenneth Aldape,Clint Mason,Kristen Diefes,Lindsey Heathcock,Lisa M. Abegglen,Dennis C. Shrieve,William T. Couldwell,Joshua D. Schiffman,Howard Colman,Quintino Giorgio D'Alessandris,Tonia Cenci,Maurizio Martini,Lucia Ricci-Vitiani,Ruggero De Maria,Luigi Maria Larocca,Roberto Pallini,Brett Theeler,Frederick Lang,Ganesh Rao,Mark R. Gilbert,Erik P. Sulman,Raja Luthra,Karina Eterovic,Mark J. Routbort,Roeland Verhaak,Gordon B. Mills,John Mendelsohn,Funda Meric-Bernstam,Alfred Yung,Kelly MacArthur,Stephen Hahn,Gary Kao,Robert H. Lustig,Michelle Alonso-Basanta,Sanjay Chandrasekaran,E. Paul Wileyto,Emigdio Reyes,Jay F. Dorsey,Kentaro Fujii,Kazuhiko Kurozumi,Tomotsugu Ichikawa,Manabu Onishi,Joji Ishida,Yosuke Shimazu,Balveen Kaur,E. Antonio Chiocca,Isao Date,Christoph Geisenberger,Andreas Mock,Rolf Warta,Christian Schwager,Christian Hartmann,Andreas von Deimling,Amir Abdollahi,Christel Herold-Mende,Olivier Gevaert,Achal S. Achrol,Sharareh Gholamin,Siddhartha Mitra,Erick M. Westbroek,Joshua Loya,Lex A. Mitchell,Steven L. Chang,Gary D. Steinberg,Sylvia K. Plevritis,Samuel H. Cheshier,Jiajing Xu,Sandy Napel,Greg Zaharchuk,Griffith R. Harsh,David A. Gutman,Chad A. Holder,Rivka R. Colen,William D. Dunn,Rajan Jain,Lee Ad Cooper,Scott N. Hwang,Adam E. Flanders,Daniel J. Brat,Josie Hayes,Alastair Droop,Helene Thygesen,Marjorie Boissinot,David R. Westhead,Susan C Short,Sean E. Lawler,Pierre Bady,Pierre Bady,Sebastian Kurscheid,Sebastian Kurscheid,Mauro Delorenzi,Mauro Delorenzi,Monika E. Hegi,Charlene Crosby,Claire Faulkner,Thomas Smye-Rumsby,Kathreena M Kurian,Maggie Williams,Kirsten Hopkins,Abigail Palmer,Hannah Williams,Chris Wragg,Harry R Haynes,Kathreena M Kurian,Paul D. White,Tetsuo Oka,Llewellyn Jalbert,Adam Elkhaled,Susan M. Chang,Randy Jensen,Karen L. Salzman,Mattias Schabel,David L. Gillespie,Michael Mumert,Brett E. Johnson,Tali Mazor,Michael R. Barnes,Shogo Yamamoto,Hiroki R. Ueda,Kenji Tatsuno,Koki Aihara,Andrew W. Bollen,Martin Hirst,Marco A. Marra,Akitake Mukasa,Nobuhito Saito,Hiroyuki Aburatani,Mitchel S. Berger,Barry S. Taylor,Sergey V. Popov,Alan Mackay,Wendy J. Ingram,Anna Burford,Alexa Jury,Mara Vinci,Chris Jones,David T.W. Jones,Volker Hovestadt,Simone Picelli,Wei Wang,Paul A. Northcott,Marcel Kool,Guido Reifenberger,Torsten Pietsch,Marc Sultan,Hans Lehrach,Marie-Laure Yaspo,Arndt Borkhardt,Pablo Landgraf,Roland Eils,Roland Eils,Andrey Korshunov,Andrey Korshunov,Marc Zapatka,Bernhard Radlwimmer,Stefan M. Pfister,Stefan M. Pfister,Peter Lichter,Anna Joy,Ivan Smirnov,Mark Reiser,William Shapiro,Seungchan Kim,Burt G. Feuerstein,Christine Jungk,Sara Friauf,Andreas Unterberg,Tareq A. Juratli,Joseph P. McElroy,Wei Meng,Alexander Huebner,Kathrin Geiger,Dietmer Krex,Gabriele Schackert,Arnab Chakravarti,Tim Lautenschlaeger,Betty Y.S. Kim,Wen Jiang,Jason Beiko,Sujit S. Prabhu,Franco DeMonte,Raymond Sawaya,Daniel P. Cahill,Ian E. McCutcheon,Ching Lau,Linghua Wang,Keita Terashima,Shigeru Yamaguchi,Matthew D. Burstein,Jiayi Sun,Tomonari Suzuki,Ryo Nishikawa,Hideo Nakamura,Atsushi Natsume,Syunsuke Terasaka,Ho Keung Ng,Donna M. Muzny,Richard A. Gibbs,David A. Wheeler,Xiao-Qin Zhang,Stella Sun,Kwok Fai Lam,Karrie M.Y. Kiang,Jenny Kan-suen Pu,Amy S.W. Ho,Gilberto K.K. Leung,Franziska Loebel,William T. Curry,Fred G. Barker,Nina Lelic,Andrew S. Chi,Daniel P. Cahill,Dan Lu,Julia Yin,Charlie Teo,Kerrie L. McDonald,Achuthamangalam Madhankumar,Cody Weston,Becky Slagle-Webb,Jonas M. Sheehan,Akshal S. Patel,Michael Glantz,James D. Connor,Cecile L. Maire,Joshua M. Francis,Joshua M. Francis,Cheng-Zhong Zhang,Joonil Jung,Veronica E. Manzo,Viktor A. Adalsteinsson,Heather Homer,Brendan Blumenstiel,Chandra Sekhar Pedamallu,Chandra Sekhar Pedamallu,Elizabeth Nickerson,Azra H. Ligon,Azra H. Ligon,Christopher Love,Matthew Meyerson,Matthew Meyerson,Keith L. Ligon,Llewellyn E. Jalbert,Sarah J. Nelson,Andrew W. Bollen,Ivan V. Smirnov,Jun S. Song,Adam B. Olshen,Mitchel S. Berger,Mitchel S. Berger,Susan M. Chang,Barry S. Taylor,Joseph F. Costello,Shwetal Mehta,Brock Armstrong,Sen Peng,Aditi Bapat,Michael E. Berens,Bárbara Meléndez,Manuela Mollejo,Pilar Mur,Teresa Hernandez-Iglesias,Concepción Fiaño,Juan Ruiz,Juan A. Rey,Volker Stadler,Alexander Schulte,Katrin Lamszus,Christian Schichor,Manfred Westphal,Jörg-Christian Tonn,Olena Morozova,Solomon Katzman,Mia Grifford,Sofie Salama,David Haussler,Adam B. Olshen,Shaun D. Fouse,Satoshi Nakamizo,Takashi Sasayama,Hirotomo Tanaka,Kazuhiro Tanaka,Katsu Mizukawa,Masaru Yoshida,Eiji Kohmura,Paul A. Northcott,David T. W. Jones,Stefan Pfister,Ryohei Otani,Shunsaku Takayanagi,Kuniaki Saito,Shota Tanaka,Masahiro Shin,Tatsuya Ozawa,Markus Riester,Yu-Kang Cheng,Jason T. Huse,Karim Helmy,Nikki Charles,Massimo Squatrito,Franziska Michor,Eric C. Holland,Moritz Perrech,Lena Dreher,Gabriele Röhn,Roland Goldbrunner,Marco Timmer,Bianca Pollo,Veronica Palumbo,Chiara Calatozzolo,Monica Patanè,Raffaele Nunziata,Mariangela Farinotti,Antonio Silvani,Sandro Lodrini,Gaetano Finocchiaro,Enrique Lopez,Ana Rioscovian,Ruth Ruiz,Georgina Siordia,Andrea Ponce de León,Andrea Ponce de León,Clifford Rostomily,Robert C. Rostomily,Daniel L. Silbergeld,Douglas Kolstoe,Douglas Kolstoe,Marc C. Chamberlain,John R. Silber,Patrick Roth,Andreas Keller,Jörg D. Hoheisel,Paula Codo,Andrea S. Bauer,Christina Backes,Petra Leidinger,Eckart Meese,Eckhard Thiel,Agnieszka Korfel,Michael Weller,Genta Nagae,Motoo Nagane,J. Zachary Sanborn,Tom Mikkelsen,Suresh C. Jhanwar,Lynda Chin,Masamitsu Nishihara,Maximilian G. Schliesser,Christiane Grimm,Elisa Weiss,Rainer Claus,Dieter Weichenhan,Markus Weiler,Thomas Hielscher,Felix Sahm,Benedikt Wiestler,Ann-Catherine Klein,Jonas Blaes,Christoph Plass,Wolfgang Wick,Giuseppe Stragliotto,Giuseppe Stragliotto,Afsar Rahbar,Cecilia Söderberg-Nauclér,Minhee Won,Ravesanker Ezhilarasan,Peng Sun,Deborah T. Blumenthal,Michael A. Vogelbaum,Robert B. Jenkins,Robert Jeraj,Paul D. Brown,Kurt A. Jaeckle,David Schiff,James J. Dignam,James Atkins,David Brachman,Maria Werner-Wasik,Minesh P. Mehta,Kenneth Aldape,Jianhe Shen,Joseph Luan,Alexander Yu,Masao Matsutani,Yu Liang,Tsz-Kwong Man,Andrew D. Trister,Andrew D. Trister,Mari Tokita,Svetlana A. Mikheeva,Andrei M. Mikheev,Stephen H. Friend,Martin J. van den Bent,Lale Erdem,Thierry Gorlia,Martin J B Taphoorn,Johan M. Kros,Pieter Wesseling,Pieter Wesseling,Hendrik Jan Dubbink,Ahmed Ibdaih,Pim J. French,HF van Thuijl,HF van Thuijl,T Mazor,BE Johnson,SD Fouse,Jan J. Heimans,P Wesseling,Bauke Ylstra,Jaap C. Reijneveld,BS Taylor,Berger,SM Chang,JF Costello,Avanita S. Prabowo,I Scheinin,H.F. van Essen,Wgm Spliet,C Ferrier,P.C. van Rijen,TJ Veersema,M Thom,Ayn Schouten-van Meeteren,Eleonora Aronica,Hoon Kim,Siyuan Zheng,D.J. Brat,Selene Virk,Saman Amini,Carrie Sougnez,Jill S. Barnholtz-Sloan,Roel G.W. Verhaak,Colin Watts,Andrea Sottoriva,Inmaculada Spiteri,Sara Grazia Maria Piccirillo,Anestis Touloumis,Peter Collins,John C. Marioni,John C. Marioni,Christina Curtis,Simon Tavaré,Björn Tews,Timothy Pok Chi Yeung,Timothy Pok Chi Yeung,Baraa K. Al-Khazraji,Laura Morrison,Lisa M. Hoffman,Lisa M. Hoffman,Dwayne N. Jackson,Ting-Yim Lee,Ting-Yim Lee,Slav Yartsev,Slav Yartsev,Glenn Bauman,Glenn Bauman,Jun Fu,Rahulsimham Vegesna,Yong Mao,Lindsey E. Heathcock,Wandaliz Torres-Garcia,Shuzhen Wang,Aaron McKenna,Cameron Brennan,W. K. Alfred Yung,John N. Weinstein,Erik P. Sulman,Dimpy Koul +575 more
Journal ArticleDOI
A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.
Rüya Meriç,Adife Gulhan Ercan-Sencicek,Dilek Uludağ Alkaya,Yasin Şahin,Mehmet Sar,Kaya Bilguvar,Beyhan Tüysüz +6 more
TL;DR: Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-CerrahpASA, Istanbul, Turkey, Department of Neurosurgery, Program on Neurogenetics, Yale Medical school, Yale University, New Haven, Connecticut, USA.