Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.
Brabbing-Goldstein D et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024
Before homozygous NDUFAF5 variants are held responsible for intrauterine death, their pathogenicity must be demonstrated.
Finsterer J
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J et al.
Nature Biotechnology, 2022
Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders.
Legro NR et al.
American Journal of Medical Genetics. Part A, 2022
A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.
Wen Y et al.
Molecular Genetics & Genomic Medicine, 2022
A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood.
Bi H et al.
Frontiers in Neurology, 2021
NDUFAF5 variants manifest phenotypically heterogeneously.
Finsterer J
Molecular Genetics and Metabolism Reports, 2019
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Simon MT et al.
Molecular Genetics and Metabolism, 2019
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and development.
Carilla-Latorre S et al.
Molecular Biology of the Cell, 2013
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
Saada A et al.
Journal of Inherited Metabolic Disease, 2012