Associated Papers
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
Hashmi JA et al.
Frontiers in Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
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The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne J et al.
Molecular Genetics and Metabolism Reports, 2021
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Lehalle D et al.
American Journal of Medical Genetics. Part A, 2019
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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