Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M et al.
Gene, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
Li C et al.
The Journal of Clinical Investigation, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Colin E et al.
Frontiers in Cell and Developmental Biology, 2023
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Bardhan M et al.
Neurogenetics, 2022
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.
Denisova E et al.
Cancer Gene Therapy, 2022
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
Audhya IF et al.
Journal of Neuromuscular Diseases, 2022
Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.
Hoch L et al.
Frontiers in Pharmacology, 2022
Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations.
Pei J et al.
Clinical Epigenetics, 2021
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM et al.
Journal of Human Genetics, 2017
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
Al-Zaidy SA et al.
Molecular Genetics & Genomic Medicine, 2015
Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.
DiCapua D et al.
Journal of Clinical Neuromuscular Disease, 2014
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Soheili T et al.
Human Mutation, 2012
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
A novel mutation in two families with limb-girdle muscular dystrophy type 2C.
Duncan DR et al.
Neurology, 2006