Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.
Mohamadian M et al.
Journal of Molecular Neuroscience : Mn, 2022
Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz B et al.
Annals of Human Genetics, 2019
Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.
Bai L et al.
Nature Structural & Molecular Biology, 2019
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T et al.
Orphanet Journal of Rare Diseases, 2019
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
[Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy].
Chen C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
Dai Y et al.
Neuromuscular Disorders : Nmd, 2015
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L et al.
European Journal of Human Genetics : Ejhg, 2012
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C et al.
Brain : a Journal of Neurology, 2007