De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Anne Gregor; Lynette G Sadleir; Reza Asadollahi; Silvia Azzarello-Burri; Agatino Battaglia; Lilian Bomme Ousager; Paranchai Boonsawat; Ange-Line Bruel; Rebecca Buchert; Eduardo Calpena; Benjamin Cogne; Bruno Dallapiccola; Felix Distelmaier; Frances Elmslie; Laurence Faivre; Tobias B Haack; Victoria Harrison; Alex Henderson; David Hunt; Bertrand Isidor; Pascal Joset; Satoko Kumada; Augusta MA Lachmeijer; Melissa Lees; Sally Ann Lynch; Francisco Martinez; Naomichi Matsumoto; Carey McDougall; Heather C Mefford; Noriko Miyake; Candace T Myers; Sebastien Moutton; Addie Nesbitt; Antonio Novelli; Carmen Orellana; Anita Rauch; Monica Rosello; Ken Saida; Avni B Santani; Ajoy Sarkar; Ingrid E Scheffer; Marwan Shinawi; Katharina Steindl; Joseph D Symonds; Elaine H Zackai; Washington Ctr Mendelian Genomics DDD Univ; Andre Reis; Heinrich Sticht; Christiane Zweier

Journal article

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Anne Gregor, Lynette G Sadleir, Reza Asadollahi, Silvia Azzarello-Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange-Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogne, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2018

DOI: 10.1016/j.ajhg.2018.07.003

University of Melbourne Researchers

Ingrid Scheffer Author Medicine - Austin Health

Grants

Awarded by Instituto de Salud Carlos III - Accion Estrategica en Salud; FEDER - Fondo Europeo de Desarrollo Regional

Awarded by NHLBI

Awarded by ERA-NET grant "Euromicro"

Awarded by German Ministry of Education and Research

Awarded by Interdisciplinary Center for Clinical Research (IZKF) Erlangen

Awarded by German Research Foundation (DFG)

Awarded by German Federal Ministry of Education and Research (BMBF) through the Juniorverbund in der Systemmedizin "mitOmics"

Awarded by AMED

Awarded by DFG

Awarded by IZKF Erlangen

Funding Acknowledgements

We thank all affected individuals and their families for participating in this study. We thank Laila Distel for excellent technical assistance. We thank Christian T. Thiel for the in-house NGS tool and Arif Ekici and Steffen Uebe from the NGS facility in the Institute of Human Genetics, Erlangen. This study makes use of data generated by the DECIPHER community (for additional information see Supplemental Acknowledgements). Studies regarding individuals 18 and 11 were supported by grant PI14/00350 (Instituto de Salud Carlos III - Accion Estrategica en Salud 2013-2016; FEDER - Fondo Europeo de Desarrollo Regional) and by PARI 2012 from Regional Council of Burgundy / Dijon University Hospital, respectively. Exome sequencing for individual 7 was performed at the University of Washington Center for Mendelian Genomics (UW-CMG) and was funded by the NHRGI and the NHLBI (grant HG006493). L.G.S. is supported by grants from the Health Research Council and Cure Kids New Zealand. A. Rauch was supported by the ERA-NET grant "Euromicro" (SNF 31ER30_154238). A. Reis was supported by the German Ministry of Education and Research (01GS08160) and the Interdisciplinary Center for Clinical Research (IZKF) Erlangen (E16). F.D. was supported by a grant of the German Research Foundation (DFG) (DI 1731/2-1). T.B.H. is supported by the German Federal Ministry of Education and Research (BMBF) through the Juniorverbund in der Systemmedizin "mitOmics" (01ZX1405C). N. Matsumoto is supported by grants from AMED (JP18ek0109280, JP18dm0107090, and JP18ek0109301). C.Z. is supported by grants from the DFG (ZW184/1-2, ZW184/3-1, and GRK2162) and by the IZKF Erlangen (E26).