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Author Details

Matthew S Lebo
Harvard Medical School, Brigham and Women's Hospital
2009
87
34
PMIDPaper TitleJournal TitlePublished Year
38054408Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.Genet Med2024
36331656Genome screening, reporting, and genetic counseling for healthy populations.Hum Genet2023
37961173Decoding Genetics, Ancestry, and Geospatial Context for Precision Health.medRxiv2023
37534744The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.Genet Med2023
37922883The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care.Am J Hum Genet2023
37186683Association of Severe Hypercholesterolemia and Familial Hypercholesterolemia Genotype With Risk of Coronary Heart Disease.Circulation2023
37279760Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.Am J Hum Genet2023
36971772Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
36597794Elective genomic testing: Practice resource of the National Society of Genetic Counselors.J Genet Couns2023
36305854Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).Genet Med2023
34923710Harmonizing variant classification for return of results in the All of Us Research Program.Hum Mutat2022
35544052Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.JAMA Cardiol2022
35437332Development of a clinical polygenic risk score assay and reporting workflow.Nat Med2022
35765100Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations.Genome Med2022
36207733Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization.Genome Med2022
36205462Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study.Curr Protoc2022
36013271The Evolution of a Large Biobank at Mass General Brigham.J Pers Med2022
33875564Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.J Med Genet2022
35041930Automated Pharmacogenomic Reports for Clinical Genome Sequencing.J Mol Diagn2022
34906510Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.Genet Med2022
33976420Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.Genet Med2021
33631351Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.J Mol Diagn2021
34646007Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.Genet Med2021
34752750Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.Am J Hum Genet2021
32567058Overcoming the challenges of interpreting complex and uncommon RH alleles from whole genomes.Vox Sang2020
32092541Design and Reporting Considerations for Genetic Screening Tests.J Mol Diagn2020
33236004Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.Res Sq2020
32820175Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.Nat Commun2020
32473076Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry.Transfusion2020
32439067Bioinformatics in Clinical Genomic Sequencing.Clin Lab Med2020
32516855An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.Hum Mutat2020
32347951Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.JAMA Netw Open2020
30298529The eMERGE genotype set of 83,717 subjects imputed to ~40â¿¿million variants genome wide and association with the herpes zoster medical record phenotype.Genet Epidemiol2019
31727422Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.J Am Coll Cardiol2019
31235655Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets.Genome Res2019
31256874Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.Am J Hum Genet2019
31392742Automated typing of red blood cell and platelet antigens from whole exome sequences.Transfusion2019
31043710Correction: Variant classification changes over time in BRCA1 and BRCA2.Genet Med2019
31147632Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.Genet Med2019
31002795Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.Cell2019
30971832Variant classification changes over time in BRCA1 and BRCA2.Genet Med2019
30605766Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories.J Mol Diagn2019
30592300A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xg<sup>a</sup>.Transfusion2019
30610921A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.J Mol Diagn2019
30609409Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.Am J Hum Genet2019
28726806Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).Genet Med2018
30100086A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.Am J Hum Genet2018
30646163Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.JAMA Netw Open2018
29728376Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case report.Cold Spring Harb Mol Case Stud2018
29780001Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study.Lancet Haematol2018
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Collaborators

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Co-authored papers 32
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 22
Partners Healthcare Center for Personalized Genetic Medicine
Co-authored papers 16
Yale School of Medicine
Co-authored papers 12
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Co-authored papers 7
Co-authored papers 7
Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 7
University of Washington Medical Center
Co-authored papers 7
Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 7
University of Washington Medical Center
Co-authored papers 7
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 6
University of Florida, College of Medicine-Jacksonville
Co-authored papers 6
Center for Systems Genomics, Pennsylvania State University, University Park
Co-authored papers 6
Geisinger Medical Center
Co-authored papers 6
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Co-authored papers 5
Co-authored papers 5
Icahn School of Medicine at Mount Sinai
Co-authored papers 5
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Co-authored papers 5
Harvard Medical School
Co-authored papers 5
Princess Margaret Cancer Centre, University Health Network
Co-authored papers 5
Genomic Medicine Institute
Co-authored papers 5
Genomic Medicine Institute, Geisinger Medical Center
Co-authored papers 5
Baylor College of Medicine.
Co-authored papers 5
Cardiovascular Research Center, Massachusetts General Hospital
Co-authored papers 5
Harvard Medical School
Co-authored papers 5
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Children's Hospital of Philadelphia
Co-authored papers 4
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Genomic Medicine Institute
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Harvard Medical School
Co-authored papers 4