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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 27, 2021
Evaluating the impact of in silico predictors on clinical variant classificationEmma H Wilcox, Mahdi Sarmady, Bryan Wulf, et al.
Genetics in Medicine Open|June 11, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panelsEmma 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 frameworkEnyonam Edoh, Chloe Mighton, Eleanor Broeren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossMayher J Patel, Marina T DiStefano, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsErin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.
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