Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.
Jeong Y
Leukemia & Lymphoma, 2025
39819262 (PubMed )
Supplement: supplement_1.pdf
Binding domain mutations provide insight into CTCF's relationship with chromatin and its contribution to gene regulation.
Do C et al.
Cell Genomics, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Brain and cancer associated binding domain mutations provide insight into CTCF's relationship with chromatin and its ability to act as a chromatin organizer.
Do C et al.
Research Square, 2024
Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa.
Trefzer L et al.
Acta Dermato-venereologica, 2023
Effect of Single-Residue Mutations on CTCF Binding to DNA: Insights from Molecular Dynamics Simulations.
Mao A et al.
International Journal of Molecular Sciences, 2023
Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation.
Boy M et al.
Nature Communications, 2023
36737440 (PubMed )
Supplement: 41467_2023_36193_MOESM1_ESM.pdf
An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.
Price E et al.
Frontiers in Molecular Neuroscience, 2023
Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants.
Tan B et al.
Frontiers in Pediatrics, 2023
CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.
Zhou R et al.
Iscience, 2022
36117989 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Structure-function relationships explain CTCF zinc finger mutation phenotypes in cancer.
Bailey CG et al.
Cellular and Molecular Life Sciences : Cmls, 2021
34657170 (PubMed )
Supplement: 18_2021_3946_MOESM1_ESM.xls › cBIO_COSMIC_published
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM13_ESM.xlsx › Supplementary_Data_11
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad EDH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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