Ravi Savarirayan

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

Ravi Savarirayan, David E Tunkel, Laura M Sterni, Michael B Bober, Tae-Joon Cho, Michael J Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E Kamps, William G Mackenzie, Cathleen Raggio, Samantha A Spencer, Viviana Bompadre, Klane K White

Journal article  |  2021  |  Orphanet Journal of Rare Diseases

BACKGROUND: Recognition and appropriate management of the craniofacial manifestations of patients with skeletal dysplasia are chal..

A cost-effectiveness and utility analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

A Yeung, NB Tan, TY Tan, Z Stark, N Brown, MJ Hunter, M Delatycki, C Stutterd, R Savarirayan, G McGillivray, R Stapleton, S Kumble, L Downie, M Regan, S Lunke, B Chong, D Phelan, G Brett, A Jarmolowicz, Y Prawer, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Novel therapeutic approaches for the treatment of achondroplasia

Laurence Legeai-Mallet, Ravi Savarirayan

Journal article  |  2020  |  Bone

Achondroplasia is the most common form of human dwarfism. The molecular basis of achondroplasia was elucidated in 1994 with the id..

Cardiovascular risk factors and body composition in adults with achondroplasia

Svein O Fredwall, Jennifer Linge, Olof Dahlqvist Leinhard, Lisa Kjonigsen, Heidi Beate Eggesbo, Harald Weedon-Fekjaer, Ingeborg Beate Lidal, Grethe Manum, Ravi Savarirayan, Serena Tonstad

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: An increased cardiovascular mortality has been reported in achondroplasia. This population-based, case-control study inve..

A community-based co-designed genetic health service model for Aboriginal Australians

Imogen Elsum, Libby Massey, Callum McEwan, Desiree LaGrappe, Emma Kowal, Ravi Savarirayan, Gareth Baynam, Misty Jenkins, Gail Garvey, Margaret Kelaher

Journal article  |  2020  |  PLoS One

BACKGROUND: Aboriginal and Torres Strait Islander people experience a greater burden of disease and die younger than non-Indigenou..

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

Ravi Savarirayan, Louise Tofts, Melita Irving, William Wilcox, Carlos A Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B Bober, Lynda E Polgreen, Ignacio Ginebreda, Klaus Mohnike, Joel Charrow, Daniel Hoernschemeyer, Keiichi Ozono, Yasemin Alanay, Paul Arundel, Shoji Kagami, Natsuo Yasui, et al.

Journal article  |  2020  |  The Lancet

BACKGROUND: There are no effective therapies for achondroplasia. An open-label study suggested that vosoritide administration migh..

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung, Natalie B Tan, Tiong Y Tan, Zornitza Stark, Natasha Brown, Matthew F Hunter, Martin Delatycki, Chloe Stutterd, Ravi Savarirayan, George Mcgillivray, Rachel Stapleton, Smitha Kumble, Lilian Downie, Matthew Regan, Sebastian Lunke, Belinda Chong, Dean Phelan, Gemma R Brett, Anna Jarmolowicz, Yael Prawer, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions..

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Simon Easteal, Ruth M Arkell, Renzo F Balboa, Shayne A Bellingham, Alex D Brown, Tom Calma, Matthew C Cook, Megan Davis, Hugh JS Dawkins, Marcel E Dinger, Michael S Dobbie, Ashley Farlow, Kylie G Gwynne, Azure Hermes, Wendy E Hoy, Misty R Jenkins, Simon H Jiang, Warren Kaplan, Stephen Leslie, Bastien Llamas, et al.

Journal article  |  2020  |  AMERICAN JOURNAL OF HUMAN GENETICS

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA var..

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

Alicia B Byrne, Shuji Mizumoto, Peer Arts, Patrick Yap, Jinghua Feng, Andreas W Schreiber, Milena Babic, Sarah L King-Smith, Christopher P Barnett, Lynette Moore, Kazuyuki Sugahara, Hatice Mutlu-Albayrak, Gen Nishimura, Jan E Liebelt, Shuhei Yamada, Ravi Savarirayan, Hamish S Scott

Journal article  |  2020  |  Journal of Medical Genetics

BACKGROUND: Pseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early leth..

Best practice guidelines for management of spinal disorders in skeletal dysplasia

Klane K White, Michael B Bober, Tae-Joon Cho, Michael J Goldberg, Julie Hoover-Fong, Melita Irving, Shawn E Kamps, William G Mackenzie, Cathleen Raggio, Samantha A Spencer, Viviana Bompadre, Ravi Savarirayan

Journal article  |  2020  |  Orphanet Journal of Rare Diseases

BACKGROUND: Disorders of the spine present a common and difficult management concern in patients with skeletal dysplasia. Due to t..