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5. The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes? Li D; Ahrens-Nicklas RC; Baker J; Bhambhani V; Calhoun A; Cohen JS; Deardorff MA; Fernández-Jaén A; Kamien B; Jain M; Mckenzie F; Mintz M; Motter C; Niles K; Ritter A; Rogers C; Roifman M; Townshend S; Ward-Melver C; Schrier Vergano SA Am J Med Genet A; 2020 Sep; 182(9):2058-2067. PubMed ID: 32686290 [TBL] [Abstract][Full Text] [Related]
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7. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Kosho T; Okamoto N; Ohashi H; Tsurusaki Y; Imai Y; Hibi-Ko Y; Kawame H; Homma T; Tanabe S; Kato M; Hiraki Y; Yamagata T; Yano S; Sakazume S; Ishii T; Nagai T; Ohta T; Niikawa N; Mizuno S; Kaname T; Naritomi K; Narumi Y; Wakui K; Fukushima Y; Miyatake S; Mizuguchi T; Saitsu H; Miyake N; Matsumoto N Am J Med Genet A; 2013 Jun; 161A(6):1221-37. PubMed ID: 23637025 [TBL] [Abstract][Full Text] [Related]
8. The SWI/SNF BAF-A complex is essential for neural crest development. Chandler RL; Magnuson T Dev Biol; 2016 Mar; 411(1):15-24. PubMed ID: 26806701 [TBL] [Abstract][Full Text] [Related]
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10. The Evf2 Ultraconserved Enhancer lncRNA Functionally and Spatially Organizes Megabase Distant Genes in the Developing Forebrain. Cajigas I; Chakraborty A; Swyter KR; Luo H; Bastidas M; Nigro M; Morris ER; Chen S; VanGompel MJW; Leib D; Kohtz SJ; Martina M; Koh S; Ay F; Kohtz JD Mol Cell; 2018 Sep; 71(6):956-972.e9. PubMed ID: 30146317 [TBL] [Abstract][Full Text] [Related]
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12. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Santen GW; Aten E; Sun Y; Almomani R; Gilissen C; Nielsen M; Kant SG; Snoeck IN; Peeters EA; Hilhorst-Hofstee Y; Wessels MW; den Hollander NS; Ruivenkamp CA; van Ommen GJ; Breuning MH; den Dunnen JT; van Haeringen A; Kriek M Nat Genet; 2012 Mar; 44(4):379-80. PubMed ID: 22426309 [TBL] [Abstract][Full Text] [Related]
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17. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Wieczorek D; Bögershausen N; Beleggia F; Steiner-Haldenstätt S; Pohl E; Li Y; Milz E; Martin M; Thiele H; Altmüller J; Alanay Y; Kayserili H; Klein-Hitpass L; Böhringer S; Wollstein A; Albrecht B; Boduroglu K; Caliebe A; Chrzanowska K; Cogulu O; Cristofoli F; Czeschik JC; Devriendt K; Dotti MT; Elcioglu N; Gener B; Goecke TO; Krajewska-Walasek M; Guillén-Navarro E; Hayek J; Houge G; Kilic E; Simsek-Kiper PÖ; López-González V; Kuechler A; Lyonnet S; Mari F; Marozza A; Mathieu Dramard M; Mikat B; Morin G; Morice-Picard F; Ozkinay F; Rauch A; Renieri A; Tinschert S; Utine GE; Vilain C; Vivarelli R; Zweier C; Nürnberg P; Rahmann S; Vermeesch J; Lüdecke HJ; Zeschnigk M; Wollnik B Hum Mol Genet; 2013 Dec; 22(25):5121-35. PubMed ID: 23906836 [TBL] [Abstract][Full Text] [Related]
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19. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. Bramswig NC; Caluseriu O; Lüdecke HJ; Bolduc FV; Noel NC; Wieland T; Surowy HM; Christen HJ; Engels H; Strom TM; Wieczorek D Hum Genet; 2017 Mar; 136(3):297-305. PubMed ID: 28124119 [TBL] [Abstract][Full Text] [Related]
20. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Weiss K; Terhal PA; Cohen L; Bruccoleri M; Irving M; Martinez AF; Rosenfeld JA; Machol K; Yang Y; Liu P; Walkiewicz M; Beuten J; Gomez-Ospina N; Haude K; Fong CT; Enns GM; Bernstein JA; Fan J; Gotway G; Ghorbani M; ; van Gassen K; Monroe GR; van Haaften G; Basel-Vanagaite L; Yang XJ; Campeau PM; Muenke M Am J Hum Genet; 2016 Oct; 99(4):934-941. PubMed ID: 27616479 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]