Journal article

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Lutz Garbes, Kyungho Kim, Angelika Riess, Heike Hoyer-Kuhn, Filippo Beleggia, Andrea Bevot, Mi Jeong Kim, Yang Hoon Huh, Hee-Seok Kweon, Ravi Savarirayan, David Amor, Purvi M Kakadia, Tobias Lindig, Karl Oliver Kagan, Jutta Becker, Simeon A Boyadjiev, Bernd Wollnik, Oliver Semler, Stefan K Bohlander, Jinoh Kim Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2015

Grants

Awarded by NHLBI


Awarded by National Institute of Dental and Craniofacial Research/NIH


Awarded by National Institute of General Medical Sciences/NIH


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


Awarded by Korea Basic Science Institute


Awarded by Bio & Medical Technology Development Program of the National Research Foundation - Ministry of Science, ICT & Future Planning


Awarded by NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH


Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES


Funding Acknowledgements

We are grateful to all family members that participated in this study and to Saskia Seland for excellent technical assistance. We would like to thank Philipp Greif and Nikola Konstandin (Department of Medicine III, University of Munich) as well as Stefan Krebs, Alexander Graf, and Helmut Blum (LaFuGA, Gene Center, University of Munich) for support in exome sequencing. The authors would like to thank the Exome Aggregation Consortium and the groups that provided exome variant data for comparison. A full list of groups contributing to ExAC can be found online. The authors would also like to thank the NHLBI GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the WHI Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926), and the Heart GO Sequencing Project (HL-103010). This work was supported in part by grants to J.K. from the National Institute of Dental and Craniofacial Research/NIH (R21 DE022419) and the National Institute of General Medical Sciences/NIH (R01 GM110373), by grants to B.W. from the German Federal Ministry of Education and Research (BMBF), grant number 01GM1211A (E-RARE network CRANIRARE-2), and grant number 01GM1109C (national rare disease network FACE), and by grants to H.-S.K. from Korea Basic Science Institute (E34700) and the Bio & Medical Technology Development Program of the National Research Foundation funded by the Ministry of Science, ICT & Future Planning (2013M3A9A9050076).