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
COL4A1 Mutation in Preterm Intraventricular Hemorrhage
Kaya Bilguvar,Michael L. DiLuna,Matthew J. Bizzarro,Yasar Bayri,Karen C. Schneider,Richard P. Lifton,Murat Gunel,Laura R. Ment +7 more
TL;DR: A rare variant in COL4A1 is reported associated with intraventricular hemorrhage in dizygotic preterm twins, expanding the spectrum of diseases attributable to mutations in type IV procollagens.
Journal ArticleDOI
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Ashleigh E. Schaffer,Ashleigh E. Schaffer,Martin W. Breuss,Ahmet Okay Caglayan,Ahmet Okay Caglayan,Nouriya Al-Sanaa,Hind Y. Al-Abdulwahed,Hande Kaymakçalan,Cahide Yilmaz,Maha S. Zaki,Rasim Ozgur Rosti,Brett Copeland,Seung Tae Baek,Damir Musaev,Eric C. Scott,Tawfeg Ben-Omran,Ariana Kariminejad,Hülya Kayserili,Faezeh Mojahedi,Majdi Kara,Na Cai,Jennifer L. Silhavy,Seham Elsharif,Elif Fenercioglu,Bruce A. Barshop,Bülent Kara,Rengang Wang,Valentina Stanley,Kiely N. James,Rahul Nachnani,Aneesha Kalur,Hisham Megahed,Faruk Incecik,Sumita Danda,Yasemin Alanay,Eissa Faqeih,Gia Melikishvili,Lobna Mansour,Ian Miller,Biayna Sukhudyan,Jamel Chelly,William B. Dobyns,Kaya Bilguvar,Rami Abou Jamra,Murat Gunel,Joseph G. Gleeson +45 more
TL;DR: The findings identify CTNNA2 as the first catenin family member with biallelic mutations in humans, causing a new pachygyria syndrome linked to actin regulation, and uncover a key factor involved in ARP2/3 repression in neurons.
Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas
Victoria E. Clark,Akdes Serin Harmanci,Hanwen Bai,Mark W. Youngblood,Tong Ihn Lee,Jacob F Baranoski,A. Gulhan Ercan-Sencicek,Brian J. Abraham,Abraham S. Weintraub,Denes Hnisz,Matthias Simon,Boris Krischek,E. Zeynep Erson-Omay,Octavian Henegariu,Geneive Carrión-Grant,Ketu Mishra-Gorur,Daniel Duran,Johanna Goldmann,Johannes Schramm,Roland Goldbrunner,Joseph M. Piepmeier,Alexander O. Vortmeyer,Jennifer Moliterno Günel,Kaya Bilguvar,Katsuhito Yasuno,Richard A. Young,Murat Gunel +26 more
TL;DR: A role for essential transcriptional machinery in driving tumorigenesis is identified and mutually exclusive meningioma subgroups with distinct clinical and pathological features are defined.
Journal ArticleDOI
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
A. Gulhan Ercan-Sencicek,Samira Jambi,Daniel Franjic,Sayoko Nishimura,Mingfeng Li,Paul El-Fishawy,Thomas M. Morgan,Stephen Sanders,Kaya Bilguvar,Mohnish Suri,Michele H. Johnson,Abha R. Gupta,Zafer Yüksel,Shrikant Mane,Elena L. Grigorenko,Elena L. Grigorenko,Marina R. Picciotto,Arthur S. Alberts,Murat Gunel,Nenad Sestan,Matthew W. State +20 more
TL;DR: It is shown that patients with a homozygous nonsense DIAPH1 alteration have MCP as well as reduced height and weight and that mDia1 protein is expressed in human neuronal precursor cells during mitotic cell division and has a major impact in the regulation of spindle formation and cell division.
Journal ArticleDOI
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
Yongjin Yoo,Jane Jung,Yoo Na Lee,Youngha Lee,Hyosuk Cho,Eunjung Na,Jea Yeok Hong,Eun Jin Kim,Jin Sook Lee,Je Sang Lee,Chansik Hong,Sang-Yoon Park,Jinhong Wie,Kathryn G. Miller,Natasha Shur,Cheryl Clow,Roseànne S. Ebel,Suzanne D. DeBrosse,Lindsay B. Henderson,Rebecca Willaert,Christopher Castaldi,Irina Tikhonova,Kaya Bilguvar,Shrikant Mane,Ki Joong Kim,Yong Seung Hwang,Seok-Geun Lee,Insuk So,Byung Chan Lim,Hee Jung Choi,Jae Young Seong,Yong Beom Shin,Hosung Jung,Jong Hee Chae,Murim Choi +34 more
TL;DR: This work investigated the specific molecular mechanism that allows an understanding of the pathogenesis and relationship of these two conditions, RTT andEE.