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Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
Mukhopadhyay N, Bishop M, Mortillo M, Chopra P, Hetmanski JB, Taub MA, Moreno LM, Valencia-Ramirez LC, Restrepo C, Wehby GL, Hecht JT, Deleyiannis F, Butali A, Weinberg SM, Beaty TH, Murray JC, Leslie EJ, Feingold E, Marazita ML. Mukhopadhyay N, et al. Among authors: moreno lm. Hum Genet. 2020 Feb;139(2):215-226. doi: 10.1007/s00439-019-02099-1. Epub 2019 Dec 17. Hum Genet. 2020. PMID: 31848685 Free PMC article.
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Kondo S, et al. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3. Nat Genet. 2002. PMID: 12219090 Free PMC article.
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Schultz R, Mansilla MA, Field LL, Liu YE, Prescott N, Malcolm S, Winter R, Ray A, Moreno L, Valencia C, Neiswanger K, Wyszynski DF, Bailey-Wilson JE, Albacha-Hejazi H, Beaty TH, McIntosh I, Hetmanski JB, Tunçbilek G, Edwards M, Harkin L, Scott R, Roddick LG. Marazita ML, et al. Am J Hum Genet. 2004 Aug;75(2):161-73. doi: 10.1086/422475. Epub 2004 Jun 4. Am J Hum Genet. 2004. PMID: 15185170 Free PMC article.
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. Zucchero TM, et al. N Engl J Med. 2004 Aug 19;351(8):769-80. doi: 10.1056/NEJMoa032909. N Engl J Med. 2004. PMID: 15317890 Free article.
CRISPLD2: a novel NSCLP candidate gene.
Chiquet BT, Lidral AC, Stal S, Mulliken JB, Moreno LM, Arcos-Burgos M, Valencia-Ramirez C, Blanton SH, Hecht JT. Chiquet BT, et al. Among authors: moreno lm. Hum Mol Genet. 2007 Sep 15;16(18):2241-8. doi: 10.1093/hmg/ddm176. Epub 2007 Jul 5. Hum Mol Genet. 2007. PMID: 17616516 Free PMC article.
Genetic admixture in Brazilians exposed to infection with Leishmania chagasi.
Ettinger NA, Duggal P, Braz RF, Nascimento ET, Beaty TH, Jeronimo SM, Pearson RD, Blackwell JM, Moreno L, Wilson ME. Ettinger NA, et al. Ann Hum Genet. 2009 May;73(Pt 3):304-13. doi: 10.1111/j.1469-1809.2009.00510.x. Epub 2009 Mar 27. Ann Hum Genet. 2009. PMID: 19397557 Free PMC article.
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC. Moreno LM, et al. Among authors: moreno ma. Hum Mol Genet. 2009 Dec 15;18(24):4879-96. doi: 10.1093/hmg/ddp444. Epub 2009 Sep 24. Hum Mol Genet. 2009. PMID: 19779022 Free PMC article.
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: moreno lm. 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.
72 results