Associated Papers
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.
Price E et al.
Frontiers in Molecular Neuroscience, 2023
37324587 (PubMed )
Supplement: Table_2.xlsx › snvs_all
Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants.
Tan B et al.
Frontiers in Pediatrics, 2023
37664546 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_S3
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
[Autosomal dominant intellectual disability type 21 in a neonate].
Chen L et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021
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
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