About the Authors

Kagistia H. Utami

Affiliations Human Genetics, Genome Institute of Singapore, Singapore, Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

Axel M. Hillmer

Affiliation Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore

Irene Aksoy

Affiliation Stem Cells and Developmental Biology, Genome Institute of Singapore, Singapore, Singapore

Elaine G. Y. Chew

Affiliation Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore

Audrey S. M. Teo

Affiliation Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore

Zhenshui Zhang

Affiliation Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore

Charlie W. H. Lee

Affiliation Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore

Pauline J. Chen

Affiliation Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore

Chan Chee Seng

Affiliation Scientific & Research Computing, Genome Institute of Singapore, Singapore, Singapore

Pramila N. Ariyaratne

Affiliation Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore

Sigrid L. Rouam

Affiliation Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore

Lim Seong Soo

Affiliation Human Genetics, Genome Institute of Singapore, Singapore, Singapore

Saira Yousoof

Affiliations Eye and Developmental Genetics Research, The Children’s Hospital at Westmead, Children’s Medical Research Institute and Save Sight Institute, Sydney, New South Wales, Australia, Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Ivan Prokudin

Affiliations Eye and Developmental Genetics Research, The Children’s Hospital at Westmead, Children’s Medical Research Institute and Save Sight Institute, Sydney, New South Wales, Australia, Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

Gregory Peters

Affiliation Department of Cytogenetics, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia

Felicity Collins

Affiliation Department of Clinical Genetics, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia

Meredith Wilson

Affiliation Department of Clinical Genetics, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia

Alyson Kakakios

Affiliation Department of Immunology, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia

Georges Haddad

Affiliation Unité de Génétique, Centre Hospitalier, Blois, France

Arnaud Menuet

Affiliation Service de Genetique INEM UMR7355 CNRS-University, Centre Hospitalier Régional d’Orléans, Orléans, France

Olivier Perche

Affiliation Service de Genetique INEM UMR7355 CNRS-University, Centre Hospitalier Régional d’Orléans, Orléans, France

Stacey Kiat Hong Tay

Affiliation Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

Ken W. K. Sung

Affiliation Computational and Mathematical Biology, Genome Institute of Singapore, Singapore, Singapore

Xiaoan Ruan

Affiliation Genome Technology and Biology, Genome Institute of Singapore, Singapore, Singapore

Yijun Ruan

Affiliation Genome Technology and Biology, Genome Institute of Singapore, Singapore, Singapore

Edison T. Liu

Affiliation Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, Singapore

Sylvain Briault

Affiliation Service de Genetique INEM UMR7355 CNRS-University, Centre Hospitalier Régional d’Orléans, Orléans, France

Robyn V. Jamieson

Affiliation Eye and Developmental Genetics Research, The Children’s Hospital at Westmead, Children’s Medical Research Institute and Save Sight Institute, Sydney, New South Wales, Australia

Sonia Davila

Affiliation Human Genetics, Genome Institute of Singapore, Singapore, Singapore

Valere Cacheux

valerecacheux@gmail.com

Affiliation Human Genetics, Genome Institute of Singapore, Singapore, Singapore

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: AMH VC SD. Performed the experiments: KHU EGYC LSS ASMT ZZ LSS SY IP. Analyzed the data: KHU AMH CWHL PJC CCS PNA SLR. Wrote the paper: KHU AMH IA VC SD SKHT. Provided sequencing platform and facility: XR YR AMH ETL. Cpatient samples: GP FC MW AK GH AM OP SB RVJ. Provided analysis tools: KWKS.