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
Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.
Khalilian S et al.
Bmc Medical Genomics, 2025
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
Mares Beltran CF et al.
Genes, 2024
Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.
Jackson S et al.
American Journal of Medical Genetics. Part A, 2024
Zellweger's Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect.
Slaton D et al.
Cureus, 2023
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Galarreta CI et al.
American Journal of Medical Genetics. Part A, 2023
Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
Schieferdecker A et al.
International Journal of Molecular Sciences, 2019
Identification of PLX4032-resistance mechanisms and implications for novel RAF inhibitors.
Choi J et al.
Pigment Cell & Melanoma Research, 2014
24283590 (PubMed )
Supplement: pcmr0027-0253-SD5.pdf
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