Mariella T Simon

6PUBLICATIONS
46CO-AUTHORS
Metabolic medicineMedical biochemistry - proteins and peptides (incl. medical proteomics)Cell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)Social epidemiology
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Publications (6)

|Sep 09, 2026
Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.

|Jun 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

|Nov 20, 2024
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Lindsey Van Haute, Petra Páleníková, Jia Xin Tang

|Feb 05, 2022
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Gudny A Arnadottir, Asmundur Oddsson, Brynjar O Jensson

|Oct 28, 2020
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.

Mariella T Simon, Shaya S Eftekharian, Sacha Ferdinandusse

|Aug 30, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Nandaki Keshavan, Jose Abdenur, Glenn Anderson

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Frequent Collaborators

2 joint publications

Aneal Khan

2 joint publications

Joél E G Smet

2 joint publications

April N Lehman

2 joint publications

Sarah H Elsea