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Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.
Howe LJ, Richardson TG, Arathimos R, Alvizi L, Passos-Bueno MR, Stanier P, Nohr E, Ludwig KU, Mangold E, Knapp M, Stergiakouli E, Pourcain BS, Smith GD, Sandy J, Relton CL, Lewis SJ, Hemani G, Sharp GC. Howe LJ, et al. Among authors: stanier p. Epigenomics. 2019 Feb;11(2):133-145. doi: 10.2217/epi-2018-0091. Epub 2019 Jan 14. Epigenomics. 2019. PMID: 30638414 Free PMC article.
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU. Mangold E, et al. Among authors: stanier p. Am J Hum Genet. 2016 Apr 7;98(4):755-62. doi: 10.1016/j.ajhg.2016.02.013. Epub 2016 Mar 24. Am J Hum Genet. 2016. PMID: 27018475 Free PMC article.
Genetic Analyses in Small-for-Gestational-Age Newborns.
Stalman SE, Solanky N, Ishida M, Alemán-Charlet C, Abu-Amero S, Alders M, Alvizi L, Baird W, Demetriou C, Henneman P, James C, Knegt LC, Leon LJ, Mannens MMAM, Mul AN, Nibbering NA, Peskett E, Rezwan FI, Ris-Stalpers C, van der Post JAM, Kamp GA, Plötz FB, Wit JM, Stanier P, Moore GE, Hennekam RC. Stalman SE, et al. Among authors: stanier p. J Clin Endocrinol Metab. 2018 Mar 1;103(3):917-925. doi: 10.1210/jc.2017-01843. J Clin Endocrinol Metab. 2018. PMID: 29342293 Free article.
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Stanier P, Copp AJ, Greene ND, Tominaga T, Matsubara Y, Kure S. Narisawa A, et al. Among authors: stanier p. Hum Mol Genet. 2012 Apr 1;21(7):1496-503. doi: 10.1093/hmg/ddr585. Epub 2011 Dec 13. Hum Mol Genet. 2012. PMID: 22171071 Free PMC article.
169 results