Associated Papers
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
A genetically modulated Toll-like receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome.
Khan R et al.
Journal of Immunology (baltimore, Md. : 1950), 2025
40101747 (PubMed )
Supplement: vkaf006_supplementary_data.pdf
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.
Manirakiza AV et al.
Npj Genomic Medicine, 2024
A genetically modulated Toll-like-receptor-tolerant phenotype in peripheral blood cells of children with multisystem inflammatory syndrome.
Khan R et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38370700 (PubMed )
Supplement: media-1.pdf
Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.
Hansen EB et al.
Scientific Reports, 2023
37932350 (PubMed )
Supplement: 41598_2023_46323_MOESM1_ESM.pdf
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
Lovejoy LA et al.
Familial Cancer, 2021
Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice.
Castillo-Tandazo W et al.
Molecular and Cellular Biology, 2021
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Suter AA et al.
Molecular Genetics & Genomic Medicine, 2016
Rothmund-thomson syndrome: a 13-year follow-up.
Guerrero-González GA et al.
Case Reports in Dermatology, 2014
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