| 1 | CDCA7, DNMT3B, HELLS, ICF1, ICF2, ICF3, ICF4, ZBTB24
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| CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.
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| Unoki M, Funabiki H, Velasco G, Francastel C, Sasaki H.
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| J Clin Invest 129(1):78-92. doi: 10.1172/JCI99751. Epub 2018 Nov 19.
2019
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| 2 | CDCA7, DNMT3B, HELLS, ICF1, ICF2, ICF3, ICF4, ZBTB24
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| Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.
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| Alghamdi HA, Tashkandi SA, Alidrissi EM, Aledielah RD, AlSaidi KA, Alharbi ES, Habazi MK, Alzahrani MS.
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| J Clin Immunol 38(8):847-853. doi: 10.1007/s10875-018-0569-9. Epub 2018 Dec 3. No abstract available.
2018
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| 3 | CDCA7, HELLS, ICF2, ICF3, ICF4, ZBTB24
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| Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.
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| Velasco G, Grillo G, Touleimat N, Ferry L, Ivkovic I, Ribierre F, Deleuze JF, Chantalat S, Picard C, Francastel C.
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| Hum Mol Genet 27(14):2409-2424. doi: 10.1093/hmg/ddy130.
2018
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| 4 | CDCA7, HELLS, ICF3, ICF4
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| Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
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| Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H.
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| Nat Commun 6:7870. doi: 10.1038/ncomms8870. 2015
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