Associated Papers
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH et al.
Genome Medicine, 2025
Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature.
Jiang Y et al.
World Journal of Pediatrics : Wjp, 2025
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Kaiyrzhanov R et al.
Brain Communications, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Approach to the Patient With Short Stature: Genetic Testing.
Perchard R et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.
Dunn PJ et al.
Molecular Neurobiology, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL et al.
American Journal of Human Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Clinical utility of genomic analysis in adults with idiopathic liver disease.
Hakim A et al.
Journal of Hepatology, 2019
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Oliver GR et al.
Plos One, 2019
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Alston CL et al.
American Journal of Human Genetics, 2018
Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.
Ahmed ST et al.
Scientific Reports, 2017
The genetics and pathology of mitochondrial disease.
Alston CL et al.
The Journal of Pathology, 2017
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
Stroud DA et al.
Nature, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston CL et al.
Journal of Medical Genetics, 2016
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB et al.
Journal of Medical Genetics, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE et al.
Science Translational Medicine, 2012