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Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.
Bureau A, Parker MM, Ruczinski I, Taub MA, Marazita ML, Murray JC, Mangold E, Noethen MM, Ludwig KU, Hetmanski JB, Bailey-Wilson JE, Cropp CD, Li Q, Szymczak S, Albacha-Hejazi H, Alqosayer K, Field LL, Wu-Chou YH, Doheny KF, Ling H, Scott AF, Beaty TH. Bureau A, et al. Genetics. 2014 Jul;197(3):1039-44. doi: 10.1534/genetics.114.165225. Epub 2014 May 2. Genetics. 2014. PMID: 24793288 Free PMC article.
Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives.
Bureau A, Younkin SG, Parker MM, Bailey-Wilson JE, Marazita ML, Murray JC, Mangold E, Albacha-Hejazi H, Beaty TH, Ruczinski I. Bureau A, et al. Bioinformatics. 2014 Aug 1;30(15):2189-96. doi: 10.1093/bioinformatics/btu198. Epub 2014 Apr 16. Bioinformatics. 2014. PMID: 24740360 Free PMC article.
MOTIVATION: Family-based designs are regaining popularity for genomic sequencing studies because they provide a way to test cosegregation with disease of variants that are too rare in the population to be tested individually in a conventional case-control study. ... …
MOTIVATION: Family-based designs are regaining popularity for genomic sequencing studies because they provide a way to test cosegrega …
Whole exome association of rare deletions in multiplex oral cleft families.
Fu J, Beaty TH, Scott AF, Hetmanski J, Parker MM, Wilson JE, Marazita ML, Mangold E, Albacha-Hejazi H, Murray JC, Bureau A, Carey J, Cristiano S, Ruczinski I, Scharpf RB. Fu J, et al. Among authors: bureau a. Genet Epidemiol. 2017 Jan;41(1):61-69. doi: 10.1002/gepi.22010. Epub 2016 Dec 1. Genet Epidemiol. 2017. PMID: 27910131 Free PMC article.
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.
Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS. Boycott KM, et al. Among authors: bureau a. Am J Hum Genet. 2005 Sep;77(3):477-83. doi: 10.1086/444400. Epub 2005 Jul 22. Am J Hum Genet. 2005. PMID: 16080122 Free PMC article.
88 results