Jaya Punetha

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren Carss, Elizabeth Stevens, A. Reghan Foley et al. · The American Journal of Human Genetics · 2013 · 236 citations · Full text

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song et al. · The American Journal of Human Genetics · 2018 · 228 citations · Full text

Genetic Analysis, Allelic Variant, Systems Biology +7

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 152 citations · Full text

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Davut Pehli̇van, Yavuz Bayram, Nilay Güneş et al. · The American Journal of Human Genetics · 2019 · 118 citations · Full text

Candidate Genes, Developmental Biology, Oligogenic Inheritance +9

Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

Luca Bello, Akanchha Kesari, Heather Gordish‐Dressman et al. · Annals of Neurology · 2015 · 110 citations · Full text