Name	Location	Contribution
Jevin M. Parmar, BBiomedSc (Hons)	Rare Disease Genetics and Functional Genomics Group, Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research, Nedlands, Australia	Drafting/revision of the manuscript for content, including medical writing for content; major role in the acquisition of data; study concept or design; analysis or interpretation of data
Elyshia L. McNamara, BSc (Hons)	Rare Disease Genetics and Functional Genomics Group, Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research, Nedlands, Australia	Major role in the acquisition of data; analysis or interpretation of data
Phillipa J. Lamont, MBBS, PhD, FRACP	Royal Perth Hospital, Australia	Major role in the acquisition of data
Kishore R. Kumar, MBBS, PhD, FRACP	Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Camperdown; Garvan Institute of Medical Research, Darlinghurst; Molecular Medicine Laboratory, Concord Repatriation General Hospital, NSW Health Pathology; Department of Neurology, Concord Repatriation General Hospital, Australia	Drafting/revision of the manuscript for content, including medical writing for content
Audrey Rick, BSc	Rare Disease Genetics and Functional Genomics Group, Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research, Nedlands, Australia	Major role in the acquisition of data
Marion Stoll, PhD	Molecular Medicine Laboratory, Concord Repatriation General Hospital, NSW Health Pathology; School of Medical Sciences, University of Sydney, Camperdown, Australia	Drafting/revision of the manuscript for content, including medical writing for content; major role in the acquisition of data
Pak Leng Cheong, MB ChB, BMedSc (Hons), MPhil, DPhil, FRCPA	Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Camperdown; Molecular Medicine Laboratory, Concord Repatriation General Hospital, NSW Health Pathology, Australia	Drafting/revision of the manuscript for content, including medical writing for content; major role in the acquisition of data
Gianina Ravenscroft, PhD	Rare Disease Genetics and Functional Genomics Group, Centre for Medical Research, University of Western Australia; Harry Perkins Institute of Medical Research, Nedlands, Australia	Drafting/revision of the manuscript for content, including medical writing for content; study concept or design