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Ben Weisburd
Ben Weisburd
Computational Scientist @ the Broad Institute
Geverifieerd e-mailadres voor broadinstitute.org
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Jaar
Analysis of protein-coding genetic variation in 60,706 humans
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...
Nature 536 (7616), 285-291, 2016
105012016
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
77862020
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
The ExAC browser: displaying reference data information from over 60 000 exomes
KJ Karczewski, B Weisburd, B Thomas, M Solomonson, DM Ruderfer, ...
Nucleic acids research 45 (D1), D840-D845, 2017
7702017
Decoding human cytomegalovirus
N Stern-Ginossar, B Weisburd, A Michalski, VTK Le, MY Hein, SX Huang, ...
Science 338 (6110), 1088-1093, 2012
7302012
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ...
Science translational medicine 9 (386), eaal5209, 2017
6922017
KSHV 2.0: a comprehensive annotation of the Kaposi's sarcoma-associated herpesvirus genome using next-generation sequencing reveals novel genomic and functional features
C Arias, B Weisburd, N Stern-Ginossar, A Mercier, AS Madrid, P Bellare, ...
PLoS pathogens 10 (1), e1003847, 2014
3312014
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
D Saleheen, P Natarajan, IM Armean, W Zhao, A Rasheed, SA Khetarpal, ...
Nature 544 (7649), 235-239, 2017
3252017
Compensatory induction of MYC expression by sustained CDK9 inhibition via a BRD4-dependent mechanism
H Lu, Y Xue, GK Yu, C Arias, J Lin, S Fong, M Faure, B Weisburd, X Ji, ...
elife 4, e06535, 2015
1442015
Genome Aggregation Database C, Neale BM, Daly MJ, MacArthur DG (2020) The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alfoldi, Q Wang, ...
Nature 581 (7809), 434-443, 0
122
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
MA Rivas, BE Avila, J Koskela, H Huang, C Stevens, M Pirinen, ...
PLoS genetics 14 (5), e1007329, 2018
972018
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
X Zhao, RL Collins, WP Lee, AM Weber, Y Jun, Q Zhu, B Weisburd, ...
The American Journal of Human Genetics 108 (5), 919-928, 2021
952021
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
CK Scriba, SJ Beecroft, JS Clayton, A Cortese, R Sullivan, WY Yau, ...
Brain 143 (10), 2904-2910, 2020
772020
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
JK Goodrich, M Singer-Berk, R Son, A Sveden, J Wood, E England, ...
Nature communications 12 (1), 3505, 2021
672021
seqr: A web‐based analysis and collaboration tool for rare disease genomics
LS Pais, H Snow, B Weisburd, S Zhang, SM Baxter, S DiTroia, E O'Heir, ...
Human mutation 43 (6), 698-707, 2022
612022
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring–Opitz Syndrome
CM Carlston, AH O'Donnell‐Luria, HR Underhill, BB Cummings, ...
Human mutation 38 (5), 517-523, 2017
602017
Centers for Mendelian Genomics: A decade of facilitating gene discovery
SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ...
Genetics in Medicine 24 (4), 784-797, 2022
552022
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ...
The American Journal of Human Genetics 110 (8), 1229-1248, 2023
462023
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
S Gudmundsson, KJ Karczewski, LC Francioli, G Tiao, BB Cummings, ...
Nature 597 (7874), E3-E4, 2021
442021
Vemurafenib cooperates with HPV to promote initiation of cutaneous tumors
M Holderfield, E Lorenzana, B Weisburd, L Lomovasky, L Boussemart, ...
Cancer research 74 (8), 2238-2245, 2014
362014
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Artikelen 1–20