Associated Papers
Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2026
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C et al.
Journal of Medical Genetics, 2023
Ophthalmic manifestations of MEPAN syndrome.
Gupta PR et al.
Ophthalmic Genetics, 2023
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.
Dutta D et al.
Nature Metabolism, 2023
Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome.
Nataraj J et al.
Frontiers in Neurology, 2023
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Flickinger J et al.
Jcsm Clinical Reports, 2021
35071983 (PubMed )
Supplement: NIHMS1767033-supplement-Supplementary_Tables.pdf
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
Liu Z et al.
Mitochondrion, 2021
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L et al.
Nature Medicine, 2019
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Heimer G et al.
American Journal of Human Genetics, 2016
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