Search research articles
Contact Us
Filters
Showing results (41-50 of 63) with videos related to
Page
of 7
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2024
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Adam S Gordon, Kristy Lee, Noura S Abul-Husn, et al.
BMC Medical Genetics
|
February 23, 2020
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene
Nida S Iqbal, Thomas A Jascur, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2023
ACMG SF v3.2 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)
David T Miller, Kristy Lee, Noura S Abul-Husn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2022
ACMG SF v3.1 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)
David T Miller, Kristy Lee, Noura S Abul-Husn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 26, 2025
ACMG SF v3.3 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)
Kristy Lee, Noura S Abul-Husn, Laura M Amendola, et al.
Genome Medicine
|
January 2, 2020
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Sarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, et al.
American Journal of Human Genetics
|
January 5, 2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Nicola Whiffin, Angharad M Roberts, Eric Minikel, et al.
American Journal of Human Genetics
|
June 23, 2023
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
Logan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 13, 2026
Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Chloe Mighton, Aya Abu-El-Haija, Vimla Aggarwal, et al.
Genome Medicine
|
January 14, 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
Ronak Y Patel, Neethu Shah, Andrew R Jackson, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 63) with videos related to
Sort By:
Page
of 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2024
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
Adam S Gordon, Kristy Lee, Noura S Abul-Husn, et al.
BMC Medical Genetics
|
February 23, 2020
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene
Nida S Iqbal, Thomas A Jascur, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 22, 2023
ACMG SF v3.2 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)
David T Miller, Kristy Lee, Noura S Abul-Husn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2022
ACMG SF v3.1 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)
David T Miller, Kristy Lee, Noura S Abul-Husn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 26, 2025
ACMG SF v3.3 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)
Kristy Lee, Noura S Abul-Husn, Laura M Amendola, et al.
Genome Medicine
|
January 2, 2020
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Sarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, et al.
American Journal of Human Genetics
|
January 5, 2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Nicola Whiffin, Angharad M Roberts, Eric Minikel, et al.
American Journal of Human Genetics
|
June 23, 2023
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
Logan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 13, 2026
Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Chloe Mighton, Aya Abu-El-Haija, Vimla Aggarwal, et al.
Genome Medicine
|
January 14, 2017
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
Ronak Y Patel, Neethu Shah, Andrew R Jackson, et al.
Page
of 7