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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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 30, 2026
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework
Enyonam Edoh, Chloe Mighton, Eleanor Broeren, 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.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
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Search research articles
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Showing results (1-10 of 4) 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 30, 2026
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework
Enyonam Edoh, Chloe Mighton, Eleanor Broeren, 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.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
Page
of 1