| 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 | 10172 | 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 | 7017 | 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 | 1160 | 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 | 725 | 2017 |
| Decoding human cytomegalovirus N Stern-Ginossar, B Weisburd, A Michalski, VTK Le, MY Hein, SX Huang, ... Science 338 (6110), 1088-1093, 2012 | 705 | 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 | 657 | 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 | 315 | 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 | 307 | 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 | 135 | 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 | 92 | 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 | 81 | 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 | 64 | 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 | 59 | 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 | 58 | 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 | 47 | 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 | 46 | 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 | 37 | 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 | 34 | 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 | 31 | 2020 |
| matchbox: An open‐source tool for patient matching via the Matchmaker Exchange H Arachchi, MH Wojcik, B Weisburd, JOB Jacobsen, E Valkanas, S Baxter, ... Human mutation 39 (12), 1827-1834, 2018 | 26 | 2018 |
