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Genetics in Medicine Open
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June 11, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
Emma H Wilcox, Ryan F Webb, Kezang C Tshering, et al.
Nature Reviews. Nephrology
|
May 21, 2026
Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen
Alicia B Byrne, Anna S Li, Edmund Y M Chung, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
Ryan F Webb, Hannah McCurry, Amanda Girod, et al.
Genetics in Medicine Open
|
June 11, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
Eleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, et al.
Genetics
|
October 6, 2025
Mondo: Integrating Disease Terminology Across Communities
Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 5) with videos related to
Sort By:
Page
of 1
Genetics in Medicine Open
|
June 11, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels
Emma H Wilcox, Ryan F Webb, Kezang C Tshering, et al.
Nature Reviews. Nephrology
|
May 21, 2026
Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen
Alicia B Byrne, Anna S Li, Edmund Y M Chung, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
Ryan F Webb, Hannah McCurry, Amanda Girod, et al.
Genetics in Medicine Open
|
June 11, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
Eleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, et al.
Genetics
|
October 6, 2025
Mondo: Integrating Disease Terminology Across Communities
Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, et al.
Page
of 1