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Rare copy number variants contribute to congenital left-sided heart disease.
Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dubé MP, Andelfinger G. Hitz MP, et al. Among authors: boerkoel c. PLoS Genet. 2012 Sep;8(9):e1002903. doi: 10.1371/journal.pgen.1002903. Epub 2012 Sep 6. PLoS Genet. 2012. PMID: 22969434 Free PMC article.
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong SL, Zahir FR, Eydoux P, Marra MA. Friedman J, et al. Among authors: boerkoel c. BMC Genomics. 2009 Nov 16;10:526. doi: 10.1186/1471-2164-10-526. BMC Genomics. 2009. PMID: 19917086 Free PMC article.
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. McLarren KW, et al. Among authors: boerkoel cf. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.
19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.
Lehman AM, du Souich C, Chai D, Eydoux P, Huang JL, Fok AK, Avila L, Swingland J, Delaney AD, McGillivray B, Goldowitz D, Argiropoulos B, Kobor MS, Boerkoel CF. Lehman AM, et al. Among authors: boerkoel cf. Clin Genet. 2012 Jan;81(1):56-63. doi: 10.1111/j.1399-0004.2010.01615.x. Epub 2011 Jan 19. Clin Genet. 2012. PMID: 21204797
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P. Karolak JA, et al. Among authors: boerkoel cf. Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639323 Free PMC article.
171 results