Associated Papers
Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.
Lin I et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38370823 (PubMed )
Supplement: media-1.xlsx › Table_S8_DNAmVAFlt03
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
Germline MBD4 Mutations and Predisposition to Uveal Melanoma.
Derrien AC et al.
Journal of the National Cancer Institute, 2021
Germline loss-of-function variants in MBD4 are rare in Finnish patients with uveal melanoma.
Repo P et al.
Pigment Cell & Melanoma Research, 2020
Whole-exome sequencing of Finnish hereditary breast cancer families.
Määttä K et al.
European Journal of Human Genetics : Ejhg, 2016
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis.
Tricarico R et al.
Oncotarget, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
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