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Steven M. Harrison

Broad Institute
Harvard University
Partners HealthCare

51

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Response to McGurk et al

2021 Genetics in Medicine
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Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

2021 medRxiv
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DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

2021 Genetics in Medicine
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Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project

2021 medRxiv
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Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns

2021
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Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

2020 Human Mutation
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Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

2020 npj Genomic Medicine
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P138 SCGN DEFICIENCY RESULTS IN COLITIS SUSCEPTIBILITY

2020 Gastroenterology
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Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

2020 BMC Medical Genetics
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Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

2019 Genome Medicine
- Steven M. Harrison
- Heidi L. Rehm
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Citations (29)