| 1 | COGIS, EED, EZH2, IMMAS, SUZ12, WVSS2
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| DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
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| Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R.
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| Am J Hum Genet. May 7;106(5):596-610. doi: 10.1016/j.ajhg.2020.03.008. Epub 2020 Apr 2. 2020
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| 2 | IMMAS, SUZ12
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| Rare SUZ12 variants commonly cause an overgrowth phenotype.
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| Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E; C.A.U.S.E.S. Study, Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT
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| Am J Med Genet C Semin Med Genet. Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. Epub 2019 Nov 17. 2019
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| 3 | IMMAS, SUZ12
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| Novel SUZ12 mutations in Weaver-like syndrome.
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| Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N.
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| Clin Genet. Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6 2018
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