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Page 1
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. Gordon CT, et al. Among authors: beck tj. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Nat Genet. 2017. PMID: 28067911 Free article.
Using long-read sequencing to detect imprinted DNA methylation.
Gigante S, Gouil Q, Lucattini A, Keniry A, Beck T, Tinning M, Gordon L, Woodruff C, Speed TP, Blewitt ME, Ritchie ME. Gigante S, et al. Nucleic Acids Res. 2019 May 7;47(8):e46. doi: 10.1093/nar/gkz107. Nucleic Acids Res. 2019. PMID: 30793194 Free PMC article.
Smchd1 is a maternal effect gene required for genomic imprinting.
Wanigasuriya I, Gouil Q, Kinkel SA, Tapia Del Fierro A, Beck T, Roper EA, Breslin K, Stringer J, Hutt K, Lee HJ, Keniry A, Ritchie ME, Blewitt ME. Wanigasuriya I, et al. Elife. 2020 Nov 13;9:e55529. doi: 10.7554/eLife.55529. Elife. 2020. PMID: 33186096 Free PMC article.
BAF complex-mediated chromatin relaxation is required for establishment of X chromosome inactivation.
Keniry A, Jansz N, Gearing LJ, Wanigasuriya I, Chen J, Nefzger CM, Hickey PF, Gouil Q, Liu J, Breslin KA, Iminitoff M, Beck T, Tapia Del Fierro A, Whitehead L, Jarratt A, Kinkel SA, Taberlay PC, Willson T, Pakusch M, Ritchie ME, Hilton DJ, Polo JM, Blewitt ME. Keniry A, et al. Nat Commun. 2022 Mar 29;13(1):1658. doi: 10.1038/s41467-022-29333-1. Nat Commun. 2022. PMID: 35351876 Free PMC article.
A method for stabilising the XX karyotype in female mESC cultures.
Keniry A, Jansz N, Hickey PF, Breslin KA, Iminitoff M, Beck T, Gouil Q, Ritchie ME, Blewitt ME. Keniry A, et al. Development. 2022 Nov 15;149(22):dev200845. doi: 10.1242/dev.200845. Epub 2022 Nov 28. Development. 2022. PMID: 36355065 Free PMC article.
156 results