Journal article

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher T Gordon, Shifeng Xue, Goekhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosins, Koh-ichiro Yoshiura, Myriam Oufadem, Tamara J Beck, Ruth McGowan, Alex C Magee, Janine Altmueller, Camille Dion, Holger Thiele, Alexandra D Gurzau, Peter Nuernberg, Dieter Meschede, Wolfgang Muehlbauer, Nobuhiko Okamoto, Vinod Varghese Show all

Nature Genetics | NATURE PUBLISHING GROUP | Published : 2017

Grants

Awarded by Agence Nationale de la Recherche (CranioRespiro)


Awarded by National Health and Medical Research Council (NHMRC) of Australia


Awarded by Scientific and Technological Research Council of Turkey (TUBITAK)


Awarded by NHMRC TRUSS grant


Awarded by German Federal Ministry of Education and Research (BMBF)


Awarded by German Research Foundation


Funding Acknowledgements

We would like to thank all family members and their relatives for their participation and kind contribution to this study. N. Akarsu was instrumental for recruiting patient 11. Support from the Jean Renny Endowed Chair for Craniofacial Research (M.L.C.) is acknowledged. C.D. is the recipient of a fellowship from the French Ministry of Education and Research. H.F. was supported by a postdoctoral grant from INSERM. B.R. is a fellow of the Branco Weiss Foundation, an A<SUP>star</SUP>STAR Investigator, an EMBO Young Investigator and a recipient of the inaugural AAA Fellowship in Amsterdam. This work was supported by funding from the Agence Nationale de la Recherche (ANR-10-IAHU-01, CranioRespiro), the Cancer Council Victoria (fellowship to K.C.), the National Health and Medical Research Council (NHMRC) of Australia to M.E.B. and J.M.M. (1098290 and fellowships 1110206 and 1105754), the Scientific and Technological Research Council of Turkey (TUBITAK) to H.K. (grant 112S398, E-RARE network CRANIRARE-2), the Association Francaise contre les Myopathies (AFM) to F.M., Victorian State Government Operational Infrastructure Support, an NHMRC TRUSS grant (9000220), the German Federal Ministry of Education and Research (BMBF) to B.W. (grant 01GM1211A, E-RARE network CRANIRARE-2), the German Research Foundation (SFB1002, project D02) to B.W., MACS, VICTA and Baillie Gifford grant support to N. Ragge, Mahidol University and Research Career Development Awards from the Faculty of Medicine Ramathibodi Hospital to D. Wattanasirichaigoon, an A<SUP>star</SUP>STAR JCO Career Development grant to A.J., an A<SUP>star</SUP>STAR BMRC Young Investigator Grant to S.X. and a Strategic Positioning Fund on Genetic Orphan Diseases from the Biomedical Research Council, A<SUP>star</SUP>STAR, Singapore, to B.R.