D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AN, Sestan N, WalshCA. Targeted DNA Sequencing from Autism Spectrum Disorder Brains ImplicatesMultiple Genetic Mechanisms. Neuron. 2015 Dec 2;88(5):910-917. doi:10.1016/j.neuron.2015.11.009.
Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, AnderlidBM, Andrieux J, Dieux A, Tommerup N, Bache I. Corpus callosum abnormalities,intellectual disability, speech impairment, and autism in patients withhaploinsufficiency of ARID1B. Clin Genet. 2012 Sep;82(3):248-55. doi:10.1111/j.1399-0004.2011.01755.x.
Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink AM, Rappold G, Schröck E,Wieczorek D, Riess O, Engels H, Rauch A, Reis A. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause ofintellectual disability. Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi:10.1016/j.ajhg.2012.02.007.
Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O'Connor KL, Malhotra D,McCarthy SE, Stray SM, Taylor SM, Sebat J; STAART Psychopharmacology Network,King B, King MC, McClellan JM. Reduced transcript expression of genes affected byinherited and de novo CNVs in autism. Eur J Hum Genet. 2011 Jun;19(6):727-31.doi: 10.1038/ejhg.2011.24.
Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, SnoeckIN, 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. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. NatGenet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217.
Santen GW, Kriek M, van Attikum H. SWI/SNF complex in disorder: SWItching frommalignancies to intellectual disability. Epigenetics. 2012 Nov;7(11):1219-24.doi: 10.4161/epi.22299.
Shain AH, Pollack JR. The spectrum of SWI/SNF mutations, ubiquitous in humancancers. PLoS One. 2013;8(1):e55119. doi: 10.1371/journal.pone.0055119.
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T,Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, YamagataT, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T,Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, MatsumotoN. Mutations affecting components of the SWI/SNF complex cause Coffin-Sirissyndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.
Wang X, Nagl NG, Wilsker D, Van Scoy M, Pacchione S, Yaciuk P, Dallas PB,Moran E. Two related ARID family proteins are alternative subunits of humanSWI/SNF complexes. Biochem J. 2004 Oct 15;383(Pt 2):319-25.
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