Matthew S Lebo

Ontology type: schema:Person     

Person Info


Matthew S



Publications in SciGraph latest 50 shown

  • 2018-08 Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers in GENETICS IN MEDICINE
  • 2018-05 Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants in GENETICS IN MEDICINE
  • 2018-03 Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) in GENETICS IN MEDICINE
  • 2017-11 Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing in GENETICS IN MEDICINE
  • 2017-07 A curated gene list for reporting results of newborn genomic sequencing in GENETICS IN MEDICINE
  • 2017-05 Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation in GENETICS IN MEDICINE
  • 2017-04 Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-12 Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing in GENETICS IN MEDICINE
  • 2016-09 Detecting Copy Number Variation via Next Generation Technology in CURRENT GENETIC MEDICINE REPORTS
  • 2016-07 VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data in GENETICS IN MEDICINE
  • 2015-11 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity in GENETICS IN MEDICINE
  • 2015-04 CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity in GENETICS IN MEDICINE
  • 2014-12 A systematic approach to the reporting of medically relevant findings from whole genome sequencing in BMC MEDICAL GENETICS
  • 2014-08 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing in GENETICS IN MEDICINE
  • 2014-03 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge in GENOME BIOLOGY
  • 2014 Designing Algorithms for Determining Significance of DNA Missense Changes in CLINICAL BIOINFORMATICS
  • 2013-10 A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record in GENETICS IN MEDICINE
  • 2013-06 American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders in GENETICS IN MEDICINE
  • 2010-12 Dynamic, mating-induced gene expression changes in female head and brain tissues of Drosophila melanogaster in BMC GENOMICS
  • 2009-12 Somatic, germline and sex hierarchy regulated gene expression during Drosophila metamorphosis in BMC GENOMICS
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