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Author Details

Ben Weisburd
Broad Institute of MIT and Harvard
2012
32
18
PMIDPaper TitleJournal TitlePublished Year
36797998Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.Brain2023
37595579Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.Am J Hum Genet2023
37621409<i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.Brain Commun2023
37214979Insights from a genome-wide truth set of tandem repeat variation.bioRxiv2023
37090938Transcriptome and Genome Analysis Uncovers a <i>DMD</i> Structural Variant: A Case Report.Neurol Genet2023
36797998Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.Brain2023
37595579Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.Am J Hum Genet2023
37621409<i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.Brain Commun2023
37214979Insights from a genome-wide truth set of tandem repeat variation.bioRxiv2023
37090938Transcriptome and Genome Analysis Uncovers a <i>DMD</i> Structural Variant: A Case Report.Neurol Genet2023
35266241seqr: A web-based analysis and collaboration tool for rare disease genomics.Hum Mutat2022
35948990REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.Genome Med2022
35923349Questioning the Association of the <i>STMN2</i> Dinucleotide Repeat With Amyotrophic Lateral Sclerosis.Neurol Genet2022
35266241seqr: A web-based analysis and collaboration tool for rare disease genomics.Hum Mutat2022
35923349Questioning the Association of the <i>STMN2</i> Dinucleotide Repeat With Amyotrophic Lateral Sclerosis.Neurol Genet2022
35948990REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.Genome Med2022
34108472Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.Nat Commun2021
33861953A form of muscular dystrophy associated with pathogenic variants in JAG2.Am J Hum Genet2021
33536625Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33789087Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.Am J Hum Genet2021
34108472Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.Nat Commun2021
34087166A form of muscular dystrophy associated with pathogenic variants in JAG2.Am J Hum Genet2021
33977140WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase.Neurol Genet2021
34373650Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33789087Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.Am J Hum Genet2021
33536625Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33861953A form of muscular dystrophy associated with pathogenic variants in JAG2.Am J Hum Genet2021
34087166A form of muscular dystrophy associated with pathogenic variants in JAG2.Am J Hum Genet2021
33977140WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine Kinase.Neurol Genet2021
34373650Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
32461654The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2020
32461654The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2020
33103729A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.Brain2020
33103729A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.Brain2020
31086968Variant Score Ranker-a web application for intuitive missense variant prioritization.Bioinformatics2019
31086968Variant Score Ranker-a web application for intuitive missense variant prioritization.Bioinformatics2019
31145742Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.PLoS Genet2019
31145742Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.PLoS Genet2019
29795570Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.PLoS Genet2018
30240502matchbox: An open-source tool for patient matching via the Matchmaker Exchange.Hum Mutat2018
29795570Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.PLoS Genet2018
30240502matchbox: An open-source tool for patient matching via the Matchmaker Exchange.Hum Mutat2018
27899611The ExAC browser: displaying reference data information from over 60 000 exomes.Nucleic Acids Res2017
28424332Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Sci Transl Med2017
28630944ClinVar data parsing.Wellcome Open Res2017
28406212Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.Nature2017
27899611The ExAC browser: displaying reference data information from over 60 000 exomes.Nucleic Acids Res2017
28229513Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.Hum Mutat2017
28229513Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.Hum Mutat2017
28406212Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.Nature2017
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Collaborators

Daniel G MacArthur
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Monkol Lek
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Beryl B Cummings
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Moriel Singer-Berk
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Nicholas A Watts
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Zachary Zappala
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Samantha Baxter
Broad Institute of MIT and Harvard
Co-authored papers 3
Taru Tukiainen
Co-authored papers 3
Jessica X Chong
Brotman Baty Institute for Precision Medicine, University of Washington
Co-authored papers 3
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