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B. Weisburd · SciRah

Researcher profile · Semantic Scholar

B. Weisburd

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B. Weisburd — researcher profile on SciRah

h-index: 26
Works: 72
Citations: 25K

Most-cited papers

Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, K. Karczewski, E. Minikel, K. Samocha +75 more
2015Nature9,705 citations Open access
Semantic Scholar
The mutational constraint spectrum quantified from variation in 141,456 humans
K. Karczewski, L. Francioli, Grace Tiao, B. Cummings +62 more
2020Nature8,785 citations Open access
Semantic Scholar
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
K. Karczewski, L. Francioli, Grace Tiao, B. Cummings +61 more
2019bioRxiv1,094 citations Open access
Semantic Scholar
A structural variation reference for medical and population genetics
Ryan L. Collins, H. Brand, K. Karczewski, Xue-Fang Zhao +180 more
2020Nature932 citations Open access
Semantic Scholar
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
B. Cummings, Jamie L. Marshall, T. Tukiainen, Monkol Lek +34 more
2016Science Translational Medicine717 citations Open access
Semantic Scholar
The ExAC browser: displaying reference data information from over 60 000 exomes
K. Karczewski, B. Weisburd, B. Thomas, M. Solomonson +10 more
2016bioRxiv712 citations Open access
Semantic Scholar
Decoding human cytomegalovirus
Noam Stern-Ginossar, B. Weisburd, Annette Michalski, Vu Thuy Khanh Le +9 more
2012Science606 citations Open access
Semantic Scholar
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
D. Saleheen, P. Natarajan, I. Armean, Wei Zhao +39 more
2017Nature303 citations Open access
Semantic Scholar
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
N. Whiffin, K. Karczewski, Xiaolei Zhang, S. Chothani +164 more
2019Nature Communications166 citations Open access
Semantic Scholar
Genome Sequencing for Diagnosing Rare Diseases
M. Wojcik, G. Lemire, Eva Berger, M. Zaki +85 more
2024New England Journal of Medicine148 citations Open access
Semantic Scholar
Exome Aggregation Consortium
Monkol Lek, K. Karczewski, E. Minikel, K. Samocha +157 more
2016133 citations
Semantic Scholar
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Xue-Fang Zhao, Ryan L. Collins, Wan-Ping Lee, Alexandra M. Weber +19 more
2021American Journal of Human Genetics115 citations Open access
Semantic Scholar
seqr: a web-based analysis and collaboration tool for rare disease genomics
L. Pais, Hana Snow, B. Weisburd, Shi-Fa Zhang +21 more
2021medRxiv103 citations Open access
Semantic Scholar
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
J. Goodrich, M. Singer-Berk, R. Son, A. Sveden +126 more
2020Nature Communications95 citations Open access
Semantic Scholar
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
K. Karczewski, L. Francioli, Grace Tiao, B. Cummings +62 more
2021Nature85 citations Open access
Semantic Scholar
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
M. Rivas, B. Avila, J. Koskela, Hai-Liang Huang +53 more
2016bioRxiv83 citations Open access
Semantic Scholar
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha M. Baxter, J. Posey, N. Lake, N. Sobreira +238 more
2021medRxiv65 citations Open access
Semantic Scholar
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
C. Carlston, A. O'Donnell-Luria, Hunter R. Underhill, B. Cummings +6 more
2016bioRxiv59 citations Open access
Semantic Scholar
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Sanna Gudmundsson, K. Karczewski, L. Francioli, Grace Tiao +63 more
2021Nature56 citations Open access
Semantic Scholar
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
E. Dolzhenko, B. Weisburd, K. Ibañez, I. Rajan-Babu +22 more
2021Genome Medicine55 citations Open access
Semantic Scholar
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Chelsea Lowther, E. Valkanas, J. Giordano, Harold Wang +41 more
2023American Journal of Human Genetics54 citations Open access
Semantic Scholar
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
S. Bryen, L. Ewans, J. Pinner, S. MacLennan +31 more
2019Human Mutation40 citations Open access
Semantic Scholar
Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice
Zaneta Matuszek, Mandana Arbab, M. Kesavan, Alvin Hsu +17 more
2025Nature Genetics31 citations Open access
Semantic Scholar
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene
V. Ganesh, Kevin Riquin, N. Chatron, Esther Yoon +27 more
2024New England Journal of Medicine31 citations Open access
Semantic Scholar
A form of muscular dystrophy associated with pathogenic variants in JAG2.
S. Coppens, A. Barnard, S. Puusepp, S. Pajusalu +54 more
2021American Journal of Human Genetics31 citations Open access
Semantic Scholar
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A. Cortese, S. Beecroft, S. Facchini, R. Curro' +80 more
2023Nature Communications30 citations Open access
Semantic Scholar
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
M. Zanovello, K. Ibañez, Anna-Leigh Brown, P. Sivakumar +20 more
2023Brain : a journal of neurology27 citations Open access
Semantic Scholar
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase
L. Waddell, S. Bryen, B. Cummings, A. Bournazos +30 more
2021Neurology: Genetics25 citations Open access
Semantic Scholar
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, B. Weisburd, E. Dolzhenko, G. VanNoy +4 more
2024medRxiv24 citations Open access
Semantic Scholar
Integrating 730,947 exome sequences with clinical literature improves gene discovery
J. Guez, J. Goodrich, Mikhail A. Moldovan, Katherine R. Chao +50 more
2026medRxiv23 citations Open access
Semantic Scholar
matchbox: An open-source tool for patient matching via the Matchmaker Exchange
Harindra M. Arachchi, M. Wojcik, B. Weisburd, Julius O. B. Jacobsen +9 more
2018Human Mutation23 citations Open access
Semantic Scholar
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
Rhett G. Marchant, S. Bryen, M. Bahlo, Anita Cairns +26 more
2024Annals of Clinical and Translational Neurology22 citations Open access
Semantic Scholar
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics
C. Scriba, Igor Stevanovski, S. Chintalaphani, H. Gamaarachchi +13 more
2023Brain Communications21 citations Open access
Semantic Scholar
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
S. L. Stenton, M. O’Leary, G. Lemire, G. VanNoy +70 more
2023Human Genomics18 citations Open access
Semantic Scholar
ClinVar data parsing
Xiaolei Zhang, E. Minikel, A. O'Donnell-Luria, D. MacArthur +2 more
2017Wellcome Open Research18 citations Open access
Semantic Scholar
Detailed tandem repeat allele profiling in 1,027 long-read genomes reveals genome-wide patterns of pathogenicity
M. Danzi, Isaac R. L. Xu, S. Fazal, E. Dolzhenko +37 more
2025bioRxiv15 citations
Semantic Scholar
Insights from a genome-wide truth set of tandem repeat variation
B. Weisburd, Grace Tiao, H. Rehm
2023bioRxiv15 citations Open access
Semantic Scholar
Defining a tandem repeat catalog and variation clusters for genome-wide analyses
B. Weisburd, E. Dolzhenko, M. Bennett, M. Danzi +19 more
2025bioRxiv13 citations Open access
Semantic Scholar
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
J. Jurgens, B. Barry, W. Chan, Sarah E. Mackinnon +36 more
2024Genetics in Medicine12 citations Open access
Semantic Scholar
Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies
Chelsea Lowther, E. Valkanas, J. Giordano, Harold Wang +41 more
2020bioRxiv12 citations Open access
Semantic Scholar
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
J. Jurgens, B. Barry, W. Chan, Sarah E. Mackinnon +36 more
2024medRxiv10 citations Open access
Semantic Scholar
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt, B. Weisburd, E. Dolzhenko, V. Rubinetti +6 more
2025Genome Medicine8 citations Open access
Semantic Scholar
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
Lily Wang, Katherine R. Chao, Ruchit Panchal, C. Liao +28 more
2024bioRxiv8 citations Open access
Semantic Scholar
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant
C. Folland, V. Ganesh, B. Weisburd, C. McLean +8 more
2023Neurology: Genetics8 citations Open access
Semantic Scholar
Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly
Xue-Fang Zhao, Ryan L. Collins, Wan-Ping Lee, Alexandra M. Weber +19 more
2020bioRxiv8 citations Open access
Semantic Scholar
Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort
Kerith-Rae Dias, R. Shrestha, Deborah Schofield, Carey-Anne Evans +61 more
2024Genetics in Medicine7 citations Open access
Semantic Scholar
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases.
B. Weisburd, E. Dolzhenko, M. F. Bennett, M. Danzi +19 more
2026American Journal of Human Genetics6 citations
Semantic Scholar
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA
V. Ganesh, Kevin Riquin, N. Chatron, Kay-Marie Lamar +26 more
2024medRxiv6 citations Open access
Semantic Scholar
A form of muscular dystrophy associated with pathogenic variants in JAG2.
S. Coppens, A. Barnard, S. Puusepp, S. Pajusalu +54 more
2021American Journal of Human Genetics6 citations Open access
Semantic Scholar
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape
H. Tanudisastro, Anna S. E. Cuomo, B. Weisburd, M. Welland +54 more
2025bioRxiv5 citations Open access
Semantic Scholar

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E. Minikel — researcher profile on SciRah

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K. Samocha — researcher profile on SciRah

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