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Clinical Chemistry
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October 1, 2020
Use of "Coldspot" Regions in Variant Classification
Steven M Harrison, Birgit Funke
Genome Medicine
|
November 23, 2019
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar
Steven M Harrison, Heidi L Rehm
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 16, 2018
The ACMG/AMP reputable source criteria for the interpretation of sequence variants
Leslie G Biesecker, Steven M Harrison,
The Journal of Urology
|
April 1, 2014
DNA copy number variations in patients with persistent cloaca
Steven M Harrison, Casey Seideman, Linda A Baker
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 6, 2020
Correspondence on "The role of clinical response to treatment in determining pathogenicity of genomic variants" by Shen et al
Leslie G Biesecker, Steven M Harrison, Heidi L Rehm
The Oncologist
|
August 31, 2017
ClinVar Is a Critical Resource to Advance Variant Interpretation
Heidi L Rehm, Steven M Harrison, Christa L Martin
Current Protocols in Human Genetics
|
September 4, 2019
Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines
Steven M Harrison, Leslie G Biesecker, Heidi L Rehm
Human Mutation
|
July 29, 2020
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
Sean V Tavtigian, Steven M Harrison, Kenneth M Boucher, et al.
Human Mutation
|
October 13, 2018
Updated recommendation for the benign stand-alone ACMG/AMP criterion
Rajarshi Ghosh, Steven M Harrison, Heidi L Rehm, et al.
Biorxiv : the Preprint Server for Biology
|
September 26, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance
Jennifer J Johnston, Kristy Lee, Deborah I Ritter, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 63) with videos related to
Sort By:
Page
of 7
Clinical Chemistry
|
October 1, 2020
Use of "Coldspot" Regions in Variant Classification
Steven M Harrison, Birgit Funke
Genome Medicine
|
November 23, 2019
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar
Steven M Harrison, Heidi L Rehm
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 16, 2018
The ACMG/AMP reputable source criteria for the interpretation of sequence variants
Leslie G Biesecker, Steven M Harrison,
The Journal of Urology
|
April 1, 2014
DNA copy number variations in patients with persistent cloaca
Steven M Harrison, Casey Seideman, Linda A Baker
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 6, 2020
Correspondence on "The role of clinical response to treatment in determining pathogenicity of genomic variants" by Shen et al
Leslie G Biesecker, Steven M Harrison, Heidi L Rehm
The Oncologist
|
August 31, 2017
ClinVar Is a Critical Resource to Advance Variant Interpretation
Heidi L Rehm, Steven M Harrison, Christa L Martin
Current Protocols in Human Genetics
|
September 4, 2019
Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines
Steven M Harrison, Leslie G Biesecker, Heidi L Rehm
Human Mutation
|
July 29, 2020
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
Sean V Tavtigian, Steven M Harrison, Kenneth M Boucher, et al.
Human Mutation
|
October 13, 2018
Updated recommendation for the benign stand-alone ACMG/AMP criterion
Rajarshi Ghosh, Steven M Harrison, Heidi L Rehm, et al.
Biorxiv : the Preprint Server for Biology
|
September 26, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance
Jennifer J Johnston, Kristy Lee, Deborah I Ritter, et al.
Page
of 7