| 1 | BAMS, FSHD2, SMCHD1 |
| FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function. | |
| Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM. | |
| J Biol Chem 293(25):9841-9853. doi: 10.1074/jbc.RA118.003104. Epub 2018 May 10. 2018 | |
| 2 | BAMS, FSHD2, SMCHD1 |
| 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. | |
| Nat Genet 49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. 2017 | |
| 3 | BAMS, SMCHD1 |
| The Epigenetic Regulator SMCHD1 in Development and Disease. | |
| Jansz N, Chen K, Murphy JM, Blewitt ME. | |
| Trends Genet 33(4):233-243. doi: 10.1016/j.tig.2017.01.007. Epub 2017 Feb 20. Review. 2017 | |
| 4 | BAMS, SMCHD1 |
| Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. | |
| Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA. | |
| Am J Med Genet A 170A(5):1302-7. doi: 10.1002/ajmg.a.37572. Epub 2016 Feb 3. 2016 | |
| 5 | BAMS |
| Bosma arhinia microphthalmia syndrome. | |
| Graham JM Jr, Lee J. | |
| Am J Med Genet A 140(2):189-93. 2006 | |