Ben Weisburd
Ben Weisburd
Computational Scientist @ the Broad Institute
Verified email at
Cited by
Cited by
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
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
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
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
Decoding human cytomegalovirus
N Stern-Ginossar, B Weisburd, A Michalski, VTK Le, MY Hein, SX Huang, ...
Science 338 (6110), 1088-1093, 2012
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
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
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
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
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
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
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
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
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
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
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
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
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
Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
SJ Bryen, LJ Ewans, J Pinner, SC MacLennan, S Donkervoort, D Castro, ...
Human mutation 41 (2), 403-411, 2020
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
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