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132 results

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Page 1
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Scott AF, et al. Among authors: doheny kf. JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731. JAMA Ophthalmol. 2014. PMID: 24993872
A strabismus susceptibility locus on chromosome 7p.
Parikh V, Shugart YY, Doheny KF, Zhang J, Li L, Williams J, Hayden D, Craig B, Capo H, Chamblee D, Chen C, Collins M, Dankner S, Fiergang D, Guyton D, Hunter D, Hutcheon M, Keys M, Morrison N, Munoz M, Parks M, Plotsky D, Protzko E, Repka MX, Sarubbi M, Schnall B, Siatkowski RM, Traboulsi E, Waeltermann J, Nathans J. Parikh V, et al. Among authors: doheny kf. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12283-8. doi: 10.1073/pnas.2035118100. Epub 2003 Sep 30. Proc Natl Acad Sci U S A. 2003. PMID: 14519848 Free PMC article.
Identification of candidate regions for familial idiopathic scoliosis.
Miller NH, Justice CM, Marosy B, Doheny KF, Pugh E, Zhang J, Dietz HC 3rd, Wilson AF. Miller NH, et al. Among authors: doheny kf. Spine (Phila Pa 1976). 2005 May 15;30(10):1181-7. doi: 10.1097/01.brs.0000162282.46160.0a. Spine (Phila Pa 1976). 2005. PMID: 15897833
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF. Beaty TH, et al. Among authors: doheny kf. Nat Genet. 2010 Jun;42(6):525-9. doi: 10.1038/ng.580. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436469 Free PMC article.
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.
Hansel NN, Ruczinski I, Rafaels N, Sin DD, Daley D, Malinina A, Huang L, Sandford A, Murray T, Kim Y, Vergara C, Heckbert SR, Psaty BM, Li G, Elliott WM, Aminuddin F, Dupuis J, O'Connor GT, Doheny K, Scott AF, Boezen HM, Postma DS, Smolonska J, Zanen P, Mohamed Hoesein FA, de Koning HJ, Crystal RG, Tanaka T, Ferrucci L, Silverman E, Wan E, Vestbo J, Lomas DA, Connett J, Wise RA, Neptune ER, Mathias RA, Paré PD, Beaty TH, Barnes KC. Hansel NN, et al. Hum Genet. 2013 Jan;132(1):79-90. doi: 10.1007/s00439-012-1219-6. Epub 2012 Sep 18. Hum Genet. 2013. PMID: 22986903 Free PMC article.
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP. Shenje LT, et al. Among authors: doheny kf. Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416. Nat Commun. 2014. PMID: 24595103 Free PMC article.
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. Among authors: doheny kf. Genetics. 2014 Jul;197(3):1039-44. doi: 10.1534/genetics.114.165225. Epub 2014 May 2. Genetics. 2014. PMID: 24793288 Free PMC article.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166479 Free PMC article. Review.
Whole-Exome Sequencing in Familial Parkinson Disease.
Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM, Foroud T. Farlow JL, et al. JAMA Neurol. 2016 Jan;73(1):68-75. doi: 10.1001/jamaneurol.2015.3266. JAMA Neurol. 2016. PMID: 26595808 Free PMC article.
132 results