Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments.
Zardetto B et al.
Human Mutation, 2024
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D et al.
Neuropediatrics, 2023
Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.
Cheng C et al.
Orphanet Journal of Rare Diseases, 2022
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V et al.
Journal of Medical Genetics, 2021
Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.
Zhang W et al.
Biophysics Reports, 2021
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.
Maclean AE et al.
Human Molecular Genetics, 2018
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Haskell GT et al.
Neurology. Genetics, 2018
Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.
Wachnowsky C et al.
Metallomics : Integrated Biometal Science, 2018
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene.
David D et al.
Jimd Reports, 2015
Mitochondrial iron-sulfur protein biogenesis and human disease.
Stehling O et al.
Biochimie, 2014
Insights into the pathogenic character of a common NUBPL branch-site mutation associated with mitochondrial disease and complex I deficiency using a yeast model.
Wydro MM et al.
Disease Models & Mechanisms, 2013
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Tucker EJ et al.
Human Mutation, 2012
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE et al.
Nature Genetics, 2010