Last Updated: 09/26/2026
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Found 85 publications
Updates to gene-disease classifications and inheritance patterns for porphyrias.
Journal: Molecular genetics and metabolism
Published: December 22, 2025
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency.
Journal: American journal of medical genetics. Part A
Published: November 23, 2025
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.
Journal: Nature communications
Published: September 01, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Journal: medRxiv : the preprint server for health sciences
Published: July 17, 2025
Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).
Journal: Molecular genetics and metabolism
Published: May 16, 2025
The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics.
Journal: American journal of human genetics
Published: May 07, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Journal: EMBO molecular medicine
Published: March 26, 2025
The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics.
Journal: medRxiv : the preprint server for health sciences
Published: February 20, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Journal: Frontiers in genetics
Published: August 31, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework.
Journal: medRxiv : the preprint server for health sciences
Published: August 30, 2024
Developing a scoring system for gene curation prioritization in lysosomal diseases.
Journal: Molecular genetics and metabolism
Published: August 06, 2024
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia.
Journal: Brain : a journal of neurology
Published: June 25, 2024
Last Updated: 09/26/2026