Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Top_priority
COASY variant as a new genetic cause of riboflavin-responsive lipid storage myopathy.
Zheng Y et al.
Cell Discovery, 2024
38413569 (PubMed )
Supplement: 41421_2023_641_MOESM1_ESM.pdf
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments.
Zardetto B et al.
Human Mutation, 2024
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
Sait H et al.
Neurogenetics, 2023
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Mishra R et al.
American Journal of Medical Genetics. Part A, 2022
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
van Dijk T et al.
European Journal of Human Genetics : Ejhg, 2018
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