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Research Involving CTCF Mutations


Bastaki F, Nair P, Mohamed M, et al. Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 
BMC Med Genet. 2017;18(1):68. Published 2017 Jun 15. doi:10.1186/s12881-017-0429-0

Breuss MW, Antaki D, George RD, et al. Autism risk in offspring can be assessed through quantification of male sperm mosaicism. 
Nat Med. 2020;26(1):143-150. doi:10.1038/s41591-019-0711-0

Cappi C, Oliphant ME, Péter Z, et al. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism. 
Biol Psychiatry. 2020;87(12):1035-1044. doi:10.1016/j.biopsych.2019.09.029

Chen F, Yuan H, Wu W, et al. Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder. 
Am J Med Genet C Semin Med Genet. 2019;181(2):218-225. doi:10.1002/ajmg.c.31698

Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. 
Nature. 2015;519(7542):223-228. doi:10.1038/nature14135

Gregor A, Oti M, Kouwenhoven EN, et al. De novo mutations in the genome organizer CTCF cause intellectual disability. 
Am J Hum Genet. 2013;93(1):124-131. doi:10.1016/j.ajhg.2013.05.007

Hori I, Kawamura R, Nakabayashi K, et al. 
CTCF deletion syndrome: clinical features and epigenetic delineation. J Med Genet. 2017;54(12):836-842. doi:10.1136/jmedgenet-2017-104854

Iossifov I, O'Roak BJ, Sanders SJ, et al. The contribution of de novo coding mutations to autism spectrum disorder. 
Nature. 2014;515(7526):216-221. doi:10.1038/nature13908

Konrad EDH, Nardini N, Caliebe A, et al. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. 
Genet Med. 2019;21(12):2723-2733. doi:10.1038/s41436-019-0585-z https://www.nature.com/articles/s41436-019-0585-z

Squeo GM, Augello B, Massa V, et al. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder [published online ahead of print, 2020 Mar 13]. J Med Genet. 2020;jmedgenet-2019-106724. doi:10.1136/jmedgenet-2019-106724

Wang, T., Hoekzema, K., Vecchio, D. et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun 11, 4932 (2020). https://doi.org/10.1038/s41467-020-18723-y
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Willsey AJ, Fernandez TV, Yu D, et al. De Novo Coding Variants Are Strongly Associated with Tourette Disorder. 
Neuron. 2017;94(3):486-499.e9. doi:10.1016/j.neuron.2017.04.024

Yuen RK, Merico D, Cao H, et al. Genome-wide characteristics of de novo mutations in autism. NPJ Genom Med. 2016;1:160271-1602710. doi:10.1038/npjgenmed.2016.27
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