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European Journal of Human Genetics : EJHG|March 10, 2016
Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathyJaya Punetha, Simin Mansoor, Tulio E Bertorini, et al.
Pediatric Neurology|December 9, 2014
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity PredominanceJaya Punetha, Soledad Monges, Maria Emilia Franchi, et al.
RNA (New York, N.Y.)|August 30, 2011
Facile synthesis of nucleoside 5'-(α-P-seleno)-triphosphates and phosphoroselenoate RNA transcriptionLina Lin, Julianne Caton-Williams, Manindar Kaur, et al.
Molecular Genetics and Metabolism|September 26, 2018
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosisJaya Punetha, Loren Mackay-Loder, Tamar Harel, et al.
Muscle & Nerve|June 28, 2016
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defectsJaya Punetha, Akanchha Kesari, Eric P Hoffman, et al.
American Journal of Medical Genetics. Part A|November 3, 2023
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literaturePriya T Bhola, Radha Mishra, Jennifer E Posey, et al.
Annals of Neurology|February 3, 2015
Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History StudyLuca Bello, Akanchha Kesari, Heather Gordish-Dressman, et al.
European Journal of Human Genetics : EJHG|September 4, 2014
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spineGina L O'Grady, Heather A Best, Emily C Oates, et al.
Neuromuscular Disorders : NMD|March 13, 2013
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathiesNigel F Clarke, Kimberly Amburgey, James Teener, et al.
Annals of Clinical and Translational Neurology|August 13, 2019
Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophyJaya Punetha, Ender Karaca, Alper Gezdirici, et al.
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