Associated Papers
Genetic landscape of primary ovarian insufficiency in Bangladeshi women through whole exome sequencing.
Pervin HH et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
RMND1 Mutation Case Report and Literature Review.
Bayrak H et al.
Molecular Syndromology, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
37103033 (PubMed )
Supplement: jcdd-10-00154-s001.zip › Table_S1.xlsx › GeneData
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
Oziębło D et al.
Genes, 2020
Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects.
Gaboon NEA et al.
Saudi Journal of Biological Sciences, 2020
RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making.
Broenen E et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2019
Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.
Vinu N et al.
Indian Journal of Pediatrics, 2018
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
Ng YS et al.
Journal of Medical Genetics, 2016
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.
Gupta A et al.
Bmc Research Notes, 2016
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
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