Associated Papers
A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.
Mohsenipour M et al.
Bmc Medical Genomics, 2025
41430707 (PubMed )
Supplement: 12920_2025_2271_MOESM1_ESM.xlsx › Sheet2
Mutation of TRPML1 Channel and Pathogenesis of Neurodegeneration in Haimeria.
Gao J et al.
Molecular Neurobiology, 2024
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL et al.
Nature Communications, 2022
36344503 (PubMed )
Supplement: 41467_2022_32908_MOESM1_ESM.pdf
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA et al.
Genome Medicine, 2022
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS et al.
Nature Communications, 2017
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