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List of works by Matthew S Lebo

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

scientific article published on 2 June 2016
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

scientific article published on December 2016
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

scientific article published on 22 January 2015
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

scientific article published on 6 February 2014
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

scientific article
A systematic approach to assessing the clinical significance of genetic variants.

scientific article
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial

scientific article
A systematic approach to the reporting of medically relevant findings from whole genome sequencing

scientific article published on December 14, 2014
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

scientific article published on 26 September 2013
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

scientific article
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

scientific article published on 26 May 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

scientific article published on July 2016
Ecdysone receptor acts in fruitless- expressing neurons to mediate drosophila courtship behaviors

scientific article published on 30 July 2009
Somatic, germline and sex hierarchy regulated gene expression during Drosophila metamorphosis

scientific article
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

scientific article published on 01 April 2019
Dynamic, mating-induced gene expression changes in female head and brain tissues of Drosophila melanogaster

scientific article
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

scientific article published on 07 September 2018
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

scientific article
A curated gene list for reporting results of newborn genomic sequencing.

scientific article published on 12 January 2017
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

article
American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders

article
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

scientific article published in October 2017
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

scientific article published on 20 July 2017
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

scientific article published on 16 December 2015
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

scientific article published on 4 May 2017
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

scientific article
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

scientific article
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

scientific article published on 26 October 2017
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

scientific article published in April 2015
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype

scientific article published on 08 October 2018
Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

scientific article published on 17 May 2018
Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine

scientific article published on 27 February 2016
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

scientific article published on 16 November 2017
A GC-wave correction algorithm that improves the analytical performance of aCGH.

scientific article published on 23 August 2012
A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing

scientific article published on 03 January 2019
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

scientific article
Pathology informatics fellowship training: Focus on molecular pathology

scientific article
Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.

scientific article published on 20 January 2016
Variant classification changes over time in BRCA1 and BRCA2

scientific article published on 11 April 2019
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project

scientific article published on 27 June 2019
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder

scientific article
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

scientific article published on 20 August 2020
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk

scientific article published on 31 May 2019
New molecular genetic tests in the diagnosis of heart disease

scientific article published on 14 January 2014
Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report

article by Jaclyn B Murry et al published August 2018 in Cold Spring Harbor molecular case studies
"Big Data" Gets Personal

scientific article
Automated typing of red blood cell and platelet antigens from whole exome sequences

scientific article published on 08 August 2019
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults

scientific article published on 11 November 2019
Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories

scientific article published on 31 December 2018

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