Associated Papers
A rare case of myopathy with fatigability due to PYROXD1 variation.
Baskar D et al.
Journal of Neuromuscular Diseases, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
39003285 (PubMed )
Supplement: 41598_2024_66324_MOESM1_ESM.xlsx › S3_GPV_list
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S4-final_16052022.xlsx › Table_4A
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
Krane M et al.
Circulation, 2021
34694888 (PubMed )
Supplement: cir-144-1409-s001.xlsx › 1B_WES_results_Munich_cohort
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Daimagüler HS et al.
American Journal of Medical Genetics. Part A, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
Woods JD et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Lornage X et al.
Acta Neuropathologica Communications, 2019
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
O'Grady GL et al.
American Journal of Human Genetics, 2016
Select a paper to view details