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 | 10501 | 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 | 7786 | 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 | 1176 | 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 | 770 | 2017 |
Decoding human cytomegalovirus N Stern-Ginossar, B Weisburd, A Michalski, VTK Le, MY Hein, SX Huang, ... Science 338 (6110), 1088-1093, 2012 | 730 | 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 | 692 | 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 | 331 | 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 | 325 | 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 | 144 | 2015 |
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 | 97 | 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 | 95 | 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 | 77 | 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 | 67 | 2021 |
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 | 61 | 2022 |
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 | 60 | 2017 |
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 | 55 | 2022 |
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 | 46 | 2023 |
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 | 44 | 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 | 36 | 2014 |