Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
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
[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
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
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