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XB--968671
Papers associated with smchd1
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Modeling endoderm development and disease in Xenopus., Edwards NA, Zorn AM., Curr Top Dev Biol. January 1, 2021; 145 61-90. |
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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. June 22, 2018; 293 (25): 9841-9853.  |
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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. February 1, 2017; 49 (2): 249-255.  |
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