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Timothy Poterba
Timothy Poterba
Principal Software Engineer, Broad Institute
在 broadinstitute.org 的电子邮件经过验证
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引用次数
引用次数
年份
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
5792*2021
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
57392020
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
17902019
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
14002020
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
11432019
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
8962019
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
2372022
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
1582018
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
1542018
Transcript expression-aware annotation improves rare variant interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
Nature 581 (7809), 452-458, 2020
1412020
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
1102017
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
1052016
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
892018
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 590 (7846), E53-E53, 2021
582021
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
482022
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
322018
Transcript expression-aware annotation improves rare variant discovery and interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
bioRxiv, 554444, 2020
212020
Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes
K Karczewski, M Solomonson, KR Chao, JK Goodrich, G Tiao, W Lu, ...
medRxiv, 2021
202021
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
DA Dyment, A O'Donnell‐Luria, PB Agrawal, Z Coban Akdemir, KA Aleck, ...
American Journal of Medical Genetics Part A 185 (1), 119-133, 2021
152021
Precise common and rare germline CNV calling with GATK
M Babadi, SK Lee, A Smirnov, L Lichtenstein, LD Gauthier, DP Howrigan, ...
Cancer Research 78 (13 Supplement), 2287-2287, 2018
102018
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