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Biorxiv : the Preprint Server for Biology|February 23, 2026
4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severityOwen S Skinner, Maria Miranda, Fangcong Dong, et al.
American Journal of Human Genetics|April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings listJennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.
The Journal of Clinical Investigation|January 19, 2021
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severityRohit Sharma, Bryn Reinstadler, Kristin Engelstad, et al.
Human Molecular Genetics|May 2, 2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairmentDebdeep Dutta, Lauren C Briere, Oguz Kanca, et al.
Molecular Genetics & Genomic Medicine|December 22, 2020
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotypeLinda Z Rossetti, Mir Reza Bekheirnia, Andrea M Lewis, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in <i>UBA5</i>-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Nucleic Acids Research|November 11, 2020
MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotationsSneha Rath, Rohit Sharma, Rahul Gupta, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
Journal of Inherited Metabolic Disease|May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated familiesMythily Ganapathi, Gaelle Friocourt, Naig Gueguen, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
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