Associated Papers
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K et al.
Biorxiv : the Preprint Server for Biology, 2024
37873263 (PubMed )
Supplement: NIHPP2023.07.12.548370v4-supplement-6.pdf
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB et al.
Annals of Clinical and Translational Neurology, 2020
32342672 (PubMed )
Supplement: ACN3-7-757-s001.pdf
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
31127727 (PubMed )
Supplement: sj-xlsx-2-jnd-10.3233_jnd-180376.xlsx › Blad1
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 3._co-segregation
Clinical application of whole-exome sequencing across clinical indications.
Retterer K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.
Kanagawa M et al.
Cell Reports, 2016
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
Hafner P et al.
Neuromuscular Disorders : Nmd, 2014
Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I.
Rosales XQ et al.
Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance, 2011
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
Quijano-Roy S et al.
Brain & Development, 2006
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