Associated Papers
Structural modeling and analyses of genetic variations in the human XPC nucleotide excision repair protein.
Le J et al.
Journal of Biomolecular Structure & Dynamics, 2023
Poikiloderma with neutropenia: An alternate presentation with dyspigmentation and novel USB1 mutation.
Peterson MY et al.
Pediatric Dermatology, 2022
Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management.
Daoud EV et al.
Acta Neuropathologica Communications, 2022
35440040 (PubMed )
Supplement: 40478_2022_1362_MOESM2_ESM.xlsx › chordoid_mutations
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_8
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table
Yeast-based assays for characterization of the functional effects of single nucleotide polymorphisms in human DNA repair genes.
Kim C et al.
Plos One, 2018
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
Macháčková E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016
[Surgical prevention of breast carcinoma in patients with hereditary risk].
Dražan L et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012
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