Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.
Wang J et al.
Cerebellum (london, England), 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A et al.
Annals of Neurology, 2020
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
Shalata A et al.
Neurochemical Research, 2019
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Hughes BG et al.
Scientific Reports, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s005.xlsx › S5_Table
A diagnostic approach for cerebral palsy in the genomic era.
Lee RW et al.
Neuromolecular Medicine, 2014
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
Select a paper to view details