Concepedia

Jaya Punetha

JP

26

Publications

1.6K

Citations

22

H-Index

2011

Active since

Affiliations

Baylor College of Medicine(Current)

Texas Children's Hospital

Children's National

Baylor Genetics

Children's Hospital at Westmead

Jaya Punetha is an author at Baylor College of Medicine specializing in medicine, genetics, and neuroscience.

ORCID

Top concepts

Publications per year

2011–2021

26

Publications

26

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

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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

, , +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

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