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Author Details

Michael A Eberle
Illumina Inc.
2000
44
29
PMIDPaper TitleJournal TitlePublished Year
36493768An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.Am J Hum Genet2023
36517591Recurrent repeat expansions in human cancer genomes.Nature2023
37267898An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.Am J Hum Genet2023
36493768An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.Am J Hum Genet2023
37425777A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus.bioRxiv2023
36669496Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.Am J Hum Genet2023
37163057Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.bioRxiv2023
37425777A common flanking variant is associated with enhanced meiotic stability of the <i>FGF14</i> -SCA27B locus.bioRxiv2023
37267898An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.Am J Hum Genet2023
37163057Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.bioRxiv2023
36517591Recurrent repeat expansions in human cancer genomes.Nature2023
36669496Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.Am J Hum Genet2023
35948990REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.Genome Med2022
36171418Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.Pharmacogenomics J2022
35948990REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.Genome Med2022
35794204Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.Commun Biol2022
35794204Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.Commun Biol2022
36171418Publisher Correction: Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.Pharmacogenomics J2022
33389754The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.Ann Neurol2021
34008887Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease.Mov Disord2021
33462347Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.Pharmacogenomics J2021
33389754The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.Ann Neurol2021
34008887Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease.Mov Disord2021
33462347Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.Pharmacogenomics J2021
32345345ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.Genome Biol2020
32345345ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.Genome Biol2020
32901039Large scale in silico characterization of repeat expansion variation in human genomes.Sci Data2020
32999459Repeat expansions confer WRN dependence in microsatellite-unstable cancers.Nature2020
32999459Repeat expansions confer WRN dependence in microsatellite-unstable cancers.Nature2020
32901039Large scale in silico characterization of repeat expansion variation in human genomes.Sci Data2020
30293986Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.Genet Med2019
31856913Paragraph: a graph-based structural variant genotyper for short-read sequence data.Genome Biol2019
30293986Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.Genet Med2019
31134279ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.Bioinformatics2019
30970188Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>.N Engl J Med2019
30858580Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
30899106Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
31104771Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.Am J Hum Genet2019
31856913Paragraph: a graph-based structural variant genotyper for short-read sequence data.Genome Biol2019
30899106Author Correction: Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
30858580Best practices for benchmarking germline small-variant calls in human genomes.Nat Biotechnol2019
30970188Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>.N Engl J Med2019
31134279ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.Bioinformatics2019
31104771Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.Am J Hum Genet2019
27903644A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.Genome Res2017
28887402Detection of long repeat expansions from PCR-free whole-genome sequence data.Genome Res2017
27903644A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.Genome Res2017
28887402Detection of long repeat expansions from PCR-free whole-genome sequence data.Genome Res2017
23509297Whole-genome haplotyping by dilution, amplification, and sequencing.Proc Natl Acad Sci U S A2013
23509297Whole-genome haplotyping by dilution, amplification, and sequencing.Proc Natl Acad Sci U S A2013
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Novartis Pharma AG
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Baylor College of Medicine
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Invitae Corporation
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Sheffield Institute for Translational Neuroscience, University of Sheffield
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The Hospital for Sick Children
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William Harvey Research Institute, Queen Mary University of London
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Illumina Ltd.
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Broad Institute of Harvard and MIT and Harvard
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University of Washington
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National Institute of Standards and Technology
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Center for Devices and Radiological Health
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Stanford University School of Medicine
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