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Michael S. Watson | doi.page

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Michael S. Watson

Publications by Year

Research Areas

Genomics and Rare Diseases, BRCA gene mutations in cancer, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Prenatal Screening and Diagnostics

Most-Cited Works

→ Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies(2010)2,855 cited
→ ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing(2013)2,500 cited
→ Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics(2016)1,687 cited
→ ClinGen — The Clinical Genome Resource(2015)1,498 cited
→ Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics(2016)690 cited
→ Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States(2014)659 cited

→ Pompe disease diagnosis and management guideline(2006)

619 cited

→ ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)(2021)550 cited

→ Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary(2006)494 cited

→ Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics(2014)486 cited