Associated Papers
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
Ebrahim MA et al.
Circulation. Genomic and Precision Medicine, 2025
DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.
Ge L et al.
Open Medicine (warsaw, Poland), 2024
Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS-Based Assay.
Nallamilli BRR et al.
Current Protocols, 2023
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.
Spadafora P et al.
International Journal of Molecular Sciences, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
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
Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.
De Palma FDE et al.
Diagnostics (basel, Switzerland), 2021
Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients.
Zehravi M et al.
Genetic Testing and Molecular Biomarkers, 2021
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.
Park HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2017
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.
Alame M et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Splicing mutation of a gene within the Duchenne muscular dystrophy family.
Zhu YB et al.
Genetics and Molecular Research : Gmr, 2016
First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.
Park HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2016
Molecular diagnosis of Duchenne muscular dystrophy.
Nallamilli BR et al.
Current Protocols in Human Genetics, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
[Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy].
Liu MJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012
Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma.
Körner H et al.
Cell Cycle (georgetown, Tex.), 2007