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Gundula Povysil
Gundula Povysil
在 cumc.columbia.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7932021
Rare-variant collapsing analyses for complex traits: guidelines and applications
G Povysil, S Petrovski, J Hostyk, V Aggarwal, AS Allen, DB Goldstein
Nature Reviews Genetics 20 (12), 747-759, 2019
1932019
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
JA Kosmicki, JE Horowitz, N Banerjee, R Lanche, A Marcketta, E Maxwell, ...
The American Journal of Human Genetics 108 (7), 1350-1355, 2021
103*2021
Causal genetic variants in stillbirth
KE Stanley, J Giordano, V Thorsten, C Buchovecky, A Thomas, ...
New England Journal of Medicine 383 (12), 1107-1116, 2020
912020
panelcn. MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics
G Povysil, A Tzika, J Vogt, V Haunschmid, L Messiaen, J Zschocke, ...
Human mutation 38 (7), 889-897, 2017
882017
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19
G Povysil, G Butler-Laporte, N Shang, C Wang, A Khan, M Alaamery, ...
The Journal of clinical investigation 131 (14), 2021
702021
TMPRSS2 transcriptional inhibition as a therapeutic strategy for COVID-19
X Wang, R Dhindsa, G Povysil, A Zoghbi, J Motelow, J Hostyk, N Nickols, ...
Preprints, 2020
55*2020
Exome-based rare-variant analyses in CKD
S Cameron-Christie, CJ Wolock, E Groopman, S Petrovski, ...
Journal of the American Society of Nephrology: JASN 30 (6), 1109, 2019
512019
Assessing the role of rare genetic variation in patients with heart failure
G Povysil, O Chazara, KJ Carss, SVV Deevi, Q Wang, J Armisen, DS Paul, ...
JAMA cardiology 6 (4), 379-386, 2021
502021
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...
The American Journal of Human Genetics 108 (6), 965-982, 2021
452021
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis
D Zhang, G Povysil, PH Kobeissy, Q Li, B Wang, M Amelotte, H Jaouadi, ...
American journal of respiratory and critical care medicine 206 (1), 56-69, 2022
422022
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
G Butler-Laporte, G Povysil, JA Kosmicki, ET Cirulli, T Drivas, S Furini, ...
Plos Genetics 18 (11), e1010367, 2022
392022
ATAV: a comprehensive platform for population-scale genomic analyses
Z Ren, G Povysil, JA Hostyk, H Cui, N Bhardwaj, DB Goldstein
BMC bioinformatics 22 (1), 1-15, 2021
342021
Rare genetic causes of complex kidney and urological diseases
EE Groopman, G Povysil, DB Goldstein, AG Gharavi
Nature Reviews Nephrology 16 (11), 641-656, 2020
332020
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis
D Zhang, CA Newton, B Wang, G Povysil, I Noth, FJ Martinez, G Raghu, ...
European Respiratory Journal 60 (6), 2022
202022
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
A Alkelai, L Greenbaum, AR Docherty, AA Shabalin, G Povysil, A Malakar, ...
Molecular Psychiatry 27 (3), 1435-1447, 2022
202022
Genetic association analysis of SARS-CoV-2 infection in 455,838 UK Biobank participants
JA Kosmicki, JE Horowitz, N Banerjee, R Lanche, A Marcketta, E Maxwell, ...
152020
CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age
S Mizumoto, AR Janecke, A Sadeghpour, G Povysil, MT McDonald, ...
Human mutation 41 (3), 655-667, 2020
142020
Clinical and genetic characteristics of CKD patients with high-risk APOL1 genotypes
MD Elliott, M Marasa, E Cocchi, N Vena, JY Zhang, A Khan, ...
The Journal of the American Society of Nephrology 34 (5), 909-919, 2023
122023
IBD sharing between Africans, Neandertals, and Denisovans
G Povysil, S Hochreiter
Genome biology and evolution 8 (12), 3406-3416, 2016
102016
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