Associated Papers
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM14_ESM.xlsx › Supplementary_Data_12_-_CTCF
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
Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.
Chen F et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
De novo mutations in the genome organizer CTCF cause intellectual disability.
Gregor A et al.
American Journal of Human Genetics, 2013
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