Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Lord J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Camelo CG et al.
Clinical Genetics, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.
Nmer S et al.
Cureus, 2024
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
Enzmann C et al.
Journal of Neuromuscular Diseases, 2024
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.
Mianesaz H et al.
Molecular Genetics & Genomic Medicine, 2023
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
Camelo CG et al.
Journal of Neuromuscular Diseases, 2023
Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients.
Tran VK et al.
Frontiers in Genetics, 2023
Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method.
Eker D et al.
Global Medical Genetics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.
El Kadiri Y et al.
Bmc Medical Genomics, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J et al.
Human Mutation, 2018
A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient.
Kubota A et al.
Internal Medicine (tokyo, Japan), 2018
Pharmaceutical therapies to recode nonsense mutations in inherited diseases.
Lee HL et al.
Pharmacology & Therapeutics, 2012
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
Oliveira J et al.
Clinical Genetics, 2008
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
Allamand V et al.
European Journal of Human Genetics : Ejhg, 2002