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Tim Poterba
Tim Poterba
其他姓名Timothy Poterba
E9 Genomics
在 e9genomics.com 的电子邮件经过验证
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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alfldi, QB Wang, ...
Nature 590 (7846), E53-E53, 2021
7664*2021
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
D Demontis, RK Walters, J Martin, M Mattheisen, TD Als, E Agerbo, ...
Nature genetics 51 (1), 63-75, 2019
22232019
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...
Cell 180 (3), 568-584. e23, 2020
18622020
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
BioRxiv, 531210, 2019
11762019
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders
PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ...
Cell 179 (7), 1469-1482. e11, 2019
11152019
Rare coding variants in ten genes confer substantial risk for schizophrenia
T Singh, T Poterba, D Curtis, H Akil, M Al Eissa, JD Barchas, N Bass, ...
Nature 604 (7906), 509-516, 2022
5092022
A genomic mutational constraint map using variation in 76,156 human genomes
S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ...
Nature, 1-11, 2023
2282023
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ...
bioRxiv, 2022.03. 20.485034, 2022
2012022
A genetic investigation of sex bias in the prevalence of attention-deficit/hyperactivity disorder
J Martin, RK Walters, D Demontis, M Mattheisen, SH Lee, E Robinson, ...
Biological psychiatry 83 (12), 1044-1053, 2018
1872018
Transcript expression-aware annotation improves rare variant interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
Nature 581 (7809), 452-458, 2020
1822020
Transcript expression-aware annotation improves rare variant discovery and interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
bioRxiv, 554444, 2020
182*2020
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals
P Natarajan, GM Peloso, SM Zekavat, M Montasser, A Ganna, M Chaffin, ...
Nature communications 9 (1), 1-12, 2018
1712018
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
KJ Karczewski, M Solomonson, KR Chao, JK Goodrich, G Tiao, W Lu, ...
Cell Genomics 2 (9), 100168, 2022
1322022
Common risk variants identified in autism spectrum disorder
J Grove, S Ripke, TD Als, M Mattheisen, R Walters, H Won, J Pallesen, ...
biorxiv, 224774, 2017
1182017
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
A Ganna, G Genovese, DP Howrigan, A Byrnes, MI Kurki, SM Zekavat, ...
Nature neuroscience 19 (12), 1563-1565, 2016
1122016
Deep coverage whole genome sequences and plasma lipoprotein (a) in individuals of European and African ancestries
SM Zekavat, S Ruotsalainen, RE Handsaker, M Alver, J Bloom, T Poterba, ...
Nature communications 9 (1), 1-14, 2018
982018
ADHD Working Group of the Psychiatric Genomics Consortium (PGC); Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium; 23andMe Research Team. Discovery of the first …
D Demontis, RK Walters, J Martin, M Mattheisen, TD Als, E Agerbo, ...
Nat Genet 51 (1), 63-75, 2019
882019
The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)
S Gudmundsson, KJ Karczewski, LC Francioli, G Tiao, BB Cummings, ...
Nature Research, 0
44*
17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage
S Marini, WJ Devan, F Radmanesh, L Miyares, T Poterba, BM Hansen, ...
Stroke 49 (7), 1618-1625, 2018
382018
Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes
KJ Karczewski, M Solomonson, KR Chao, JK Goodrich, G Tiao, W Lu, ...
Medrxiv, 2021.06. 19.21259117, 2021
282021
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