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.
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Journal ArticleDOI
Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations.
Silvia Vilarinho,E. Zeynep Erson-Omay,Akdes Serin Harmanci,Raffaella A. Morotti,Geneive Carrión-Grant,Jacob F Baranoski,A.S. Knisely,Udeme D. Ekong,Sukru Emre,Katsuhito Yasuno,Kaya Bilguvar,Murat Gunel +11 more
TL;DR: This is the first study to identify somatic CTNNB1 and NFE2L2 mutations in early childhood arisen in the setting of inherited bi-allelic ABCB11 mutations.
Journal ArticleDOI
A novel de novo mutation in ATP1A3 and Childhood-Onset Schizophrenia
Niklas Smedemark-Margulies,Niklas Smedemark-Margulies,Catherine A. Brownstein,Catherine A. Brownstein,Sigella Vargas,Sahil Tembulkar,Meghan C. Towne,Jiahai Shi,Elisa Gonzalez-Cuevas,Kevin X. Liu,Kaya Bilguvar,Robin J. Kleiman,Robin J. Kleiman,Min-Joon Han,Min-Joon Han,Alcy Torres,Gerard T. Berry,Timothy W. Yu,Timothy W. Yu,Alan H. Beggs,Alan H. Beggs,Pankaj B. Agrawal,Joseph Gonzalez-Heydrich,Joseph Gonzalez-Heydrich +23 more
TL;DR: A child with onset of command auditory hallucinations and behavioral regression at 6 yr of age is described in the context of longer standing selective mutism, aggression, and mild motor delays and a previously unreported heterozygous de novo mutation c.385G>A in ATP1A3 is revealed.
Journal ArticleDOI
Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy.
Luca Zammataro,Salvatore Lopez,Salvatore Lopez,Stefania Bellone,Francesca Pettinella,Elena Bonazzoli,Emanuele Perrone,Emanuele Perrone,Siming Zhao,Gulden Menderes,Gary Altwerger,Chanhee Han,Burak Zeybek,Anna Bianchi,Aranzazu Manzano,Paola Manara,Emiliano Cocco,Natalia Buza,Pei Hui,Serena Wong,Antonella Ravaggi,Eliana Bignotti,Chiara Romani,Paola Todeschini,Laura Zanotti,Franco Odicino,Sergio Pecorelli,Carla Donzelli,Laura Ardighieri,Roberto Angioli,Francesco Raspagliesi,Giovanni Scambia,Jungmin Choi,Jungmin Choi,Weilai Dong,Kaya Bilguvar,Ludmil B. Alexandrov,Dan-Arin Silasi,Gloria S. Huang,Elena Ratner,Masoud Azodi,Peter E. Schwartz,Valentina Pirazzoli,Amy L. Stiegler,Titus J. Boggon,Richard P. Lifton,Joseph Schlessinger,Alessandro D. Santin +47 more
TL;DR: Using whole-exome sequencing, multiple genes with recurrent alterations in cervical cancer are identified, suggesting that a large subset of cervical tumors might benefit from existing ERBB2/PI3K/AKT/mTOR-targeted drugs.
Journal Article
Integrated genomic analyses of de novo pathways underlying atypical meningiomas
Mark W. Youngblood,Victoria E. Clark,Octavian Henegariu,Daniel Duran,E. Zeynep Erson-Omay,Leon D. Kaulen,Matthias Simon,Boris Krischek,Marco Timmer,Roland Goldbrunner,Jacob F Baranoski,Hanwen Bai,Ketu Mishra-Gorur,Johannes Schramm,Jennifer Moliterno,Alexander O. Vortmeyer,Kaya Bilg var,Katsuhito Yasuno,Murat G nel,Akdes Serin Harmanci,Coskun Suleyman,S. Bulent Omay,Burçin Baran,Geneive Carrión-Grant,Kaya Bilguvar,Tong Ihn Lee,Brian J. Abraham,Richard A. Young +27 more
TL;DR: In this paper, the authors compared benign meningiomas to atypical ones and found that the majority of primary (de novo) atypICAL meningIomas display loss of NF2, which cooccurs either with genomic instability or recurrent SMARCB1 mutations.
Journal ArticleDOI
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Marianna Madeo,Michelle Stewart,Yuyang Sun,Nadia Sahir,Sarah Wiethoff,Indra Chandrasekar,Anna Yarrow,Jill A. Rosenfeld,Yaping Yang,Dawn Cordeiro,Elizabeth M. McCormick,Colleen Muraresku,Tyler N. Jepperson,Lauren J. McBeth,Mohammed Zain Seidahmed,Heba Y. El Khashab,Heba Y. El Khashab,Muddathir H. Hamad,Hamid Azzedine,Karl J. Clark,Silvia Corrochano,Sara Wells,Mariet W. Elting,Marjan M. Weiss,Sabrina Burn,Angela Myers,Megan Landsverk,Patricia L. Crotwell,Quinten Waisfisz,Nicole I. Wolf,Patrick M. Nolan,Sergio Padilla-Lopez,Sergio Padilla-Lopez,Henry Houlden,Richard P. Lifton,Shrikant Mane,Brij B. Singh,Marni J. Falk,Saadet Mercimek-Mahmutoglu,Kaya Bilguvar,Mustafa A. Salih,Abraham Acevedo-Arozena,Michael C. Kruer +42 more
TL;DR: A neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein, which attenuates AMPA-mediated currents is described.