Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Zaki MS et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.
Demaret T et al.
Pediatric Transplantation, 2018
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR et al.
Biochimica Et Biophysica Acta, 2012
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
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