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Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.
Oliver C, Groves L, Hansen BD, Salehi M, Kheradmand S, Carrico CS, Caudill P, Mattingly M, Dorsett D, Chea S, Singh VP, Krantz ID, Huisman S, Deardorff MA, Kline AD. Oliver C, et al. Among authors: dorsett d. Am J Med Genet A. 2022 Mar;188(3):1005-1014. doi: 10.1002/ajmg.a.62591. Epub 2021 Dec 7. Am J Med Genet A. 2022. PMID: 34877788
Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts.
Kline AD, Calof AL, Schaaf CA, Krantz ID, Jyonouchi S, Yokomori K, Gauze M, Carrico CS, Woodman J, Gerton JL, Vega H, Levin AV, Shirahige K, Champion M, Goodban MT, O'Connor JT, Pipan M, Horsfield J, Deardorff MA, Ishman SL, Dorsett D. Kline AD, et al. Among authors: dorsett d. Am J Med Genet A. 2014 Jun;164A(6):1384-93. doi: 10.1002/ajmg.a.36417. Epub 2014 Feb 6. Am J Med Genet A. 2014. PMID: 24504889
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE. Kline AD, et al. Among authors: dorsett d. Am J Med Genet A. 2015 Jun;167(6):1179-92. doi: 10.1002/ajmg.a.37056. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899772
Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.
Kline AD, Krantz ID, Deardorff MA, Shirahige K, Dorsett D, Gerton JL, Wu M, Mehta D, Mills JA, Carrico CS, Noon S, Herrera PS, Horsfield JA, Bettale C, Morgan J, Huisman SA, Moss J, McCleery J, Grados M, Hansen BD, Srivastava S, Taylor-Snell E, Kerr LM, Katz O, Calof AL, Musio A, Egense A, Haaland RE. Kline AD, et al. Among authors: dorsett d. Am J Med Genet A. 2017 May;173(5):1172-1185. doi: 10.1002/ajmg.a.38161. Epub 2017 Feb 12. Am J Med Genet A. 2017. PMID: 28190301 Free PMC article.
Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018.
Kline AD, Krantz ID, Bando M, Shirahige K, Chea S, Sakata T, Rao S, Dorsett D, Singh VP, Gerton JL, Horsfield JA, Calof AL, Katz O, Grados M, Raible S, Barañano K, Lyon G, Musio A, Carrico CS, Clemens DK, Caudill P, Massa V, McGill BE, Dommestrup A, O'Connor J, Haaland RE. Kline AD, et al. Among authors: dorsett d. Am J Med Genet A. 2019 Jun;179(6):1080-1090. doi: 10.1002/ajmg.a.61108. Epub 2019 Mar 15. Am J Med Genet A. 2019. PMID: 30874362 Free PMC article.
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Deardorff MA, et al. Among authors: dorsett d. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17. Am J Hum Genet. 2007. PMID: 17273969 Free PMC article.
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID. Izumi K, et al. Among authors: dorsett d. Nat Genet. 2015 Apr;47(4):338-44. doi: 10.1038/ng.3229. Epub 2015 Mar 2. Nat Genet. 2015. PMID: 25730767 Free PMC article.
Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior.
Wu Y, Gause M, Xu D, Misulovin Z, Schaaf CA, Mosarla RC, Mannino E, Shannon M, Jones E, Shi M, Chen WF, Katz OL, Sehgal A, Jongens TA, Krantz ID, Dorsett D. Wu Y, et al. Among authors: dorsett d. PLoS Genet. 2015 Nov 6;11(11):e1005655. doi: 10.1371/journal.pgen.1005655. eCollection 2015 Nov. PLoS Genet. 2015. PMID: 26544867 Free PMC article.
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