Publications by authors named "Mayher Patel"

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Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.
Justyne E Ross, May Flowers, Shannon McNulty, Mayher Patel, Hui Yang

J Neuromuscul Dis· November 2025

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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.
Ryan F Webb, Hannah McCurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel

J Bone Miner Res· November 2025

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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, Pamela Ajuyah, Marie B Balzotti, Mayher J Patel

Genet Med Open· April 2025

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, Pamela Ajuyah, Marie Balzotti, Mayher Patel

medRxiv· November 2024

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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J Barkovich, Yang Cao, Mayher Patel

Genet Med· November 2022

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Mayher J Patel, Marina T DiStefano, Andrea M Oza, Madeline Y Hughes, Emma H Wilcox

Genet Med· November 2021

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