팔로우
Kaya Bilguvar
Kaya Bilguvar
Acibadem University, Yale University
yale.edu의 이메일 확인됨
제목
인용
인용
연도
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ...
Science 370 (6515), eabd4585, 2020
27542020
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
SJ Sanders, MT Murtha, AR Gupta, JD Murdoch, MJ Raubeson, ...
Nature 485 (7397), 237-241, 2012
24432012
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ...
Science 370 (6515), eabd4570, 2020
23692020
Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism
SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ...
Neuron 70 (5), 863-885, 2011
15302011
Neuroinvasion of SARS-CoV-2 in human and mouse brain
E Song, C Zhang, B Israelow, A Lu-Culligan, AV Prado, S Skriabine, P Lu, ...
Journal of Experimental Medicine 218 (3), e20202135, 2021
10442021
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ...
Science 350 (6265), 1262-1266, 2015
8382015
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
SC Jin, J Homsy, S Zaidi, Q Lu, S Morton, SR DePalma, X Zeng, H Qi, ...
Nature genetics 49 (11), 1593-1601, 2017
8222017
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ...
The American Journal of Human Genetics 97 (2), 199-215, 2015
7822015
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ...
science 343 (6170), 506-511, 2014
5812014
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
5432021
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
BD Stuart, J Choi, S Zaidi, C Xing, B Holohan, R Chen, M Choi, ...
Nature genetics 47 (5), 512-517, 2015
5032015
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
3882021
L-histidine decarboxylase and Tourette's syndrome
AG Ercan-Sencicek, AA Stillman, AK Ghosh, K Bilguvar, BJ O'Roak, ...
New England Journal of Medicine 362 (20), 1901-1908, 2010
3812010
Genome-wide association study of intracranial aneurysm identifies three new risk loci
K Yasuno, K Bilguvar, P Bijlenga, SK Low, B Krischek, G Auburger, ...
Nature genetics 42 (5), 420-425, 2010
3652010
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder
DC Tărlungeanu, E Deliu, CP Dotter, M Kara, PC Janiesch, M Scalise, ...
Cell 167 (6), 1481-1494. e18, 2016
3342016
Integrated genomic characterization of IDH1-mutant glioma malignant progression
H Bai, AS Harmancı, EZ Erson-Omay, J Li, S Coşkun, M Simon, ...
Nature genetics 48 (1), 59-66, 2016
3322016
Susceptibility loci for intracranial aneurysm in European and Japanese populations
K Bilguvar, K Yasuno, M Niemelä, YM Ruigrok, M Von Und Zu Fraunberg, ...
Nature genetics 40 (12), 1472-1477, 2008
3232008
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ...
Cell 157 (3), 651-663, 2014
2932014
AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastoma
RD Chow, CD Guzman, G Wang, F Schmidt, MW Youngblood, L Ye, ...
Nature neuroscience 20 (10), 1329-1341, 2017
2472017
Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism
TV Fernandez, SJ Sanders, IR Yurkiewicz, AG Ercan-Sencicek, YS Kim, ...
Biological psychiatry 71 (5), 392-402, 2012
2342012
현재 시스템이 작동되지 않습니다. 나중에 다시 시도해 주세요.
학술자료 1–20