Associated Papers
Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.
Becker M et al.
American Journal of Medical Genetics. Part A, 2026
G-Quadruplex Formed by the Promoter Region of the hTERT Gene: Structure-Driven Effects on DNA Mismatch Repair Functions.
Pavlova AV et al.
Biomedicines, 2022
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Dhindsa RS et al.
Communications Biology, 2021
33758299 (PubMed )
Supplement: 42003_2021_1910_MOESM4_ESM.xlsx › ExWAS_p_0.05
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S6.xlsx › Supp_Table_6b
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
Walne AJ et al.
Human Molecular Genetics, 2010
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