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Genetics

D-Index
60
Citations
12973
World Ranking
3155
National Ranking
107

Overview

Ravi Savarirayan is affiliated with the Murdoch Children's Research Institute in Australia. Their research contributions focus primarily on the fields of medicine and biochemistry, genetics, and molecular biology, with a notable emphasis on genetics within these areas.

The scientist's work spans several subfields including genetics, surgery, pulmonary and respiratory medicine, pediatrics, perinatology, child health, and molecular biology. Main research topics cover connective tissue disorders, neonatal respiratory health, congenital diaphragmatic hernia, hip disorders and treatments, fibroblast growth factor research, lipid metabolism and disorders, as well as genomics and rare diseases.

Frequent publication venues for their research include:

  • Journal of the Endocrine Society
  • Orphanet Journal of Rare Diseases
  • Genetics in Medicine Open
  • Genetics in Medicine
  • Nature Reviews Endocrinology

Collaborations feature several frequent co-authors, such as Melita Irving, Julie Hoover-Fong, Paul Harmatz, Michael B. Bober, and Paul Arundel.

Significant papers by Ravi Savarirayan include:

  • Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial, 2020, The Lancet
  • International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia, 2021, Nature Reviews Endocrinology
  • Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study, 2021, Genetics in Medicine

Additional relevant publications where Ravi Savarirayan is not the primary author but included in related research are:

  • Nosology of genetic skeletal disorders: 2023 revision, 2023, American Journal of Medical Genetics Part A
  • Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history, 2021, Bone

Best Publications

  • Nosology and classification of genetic skeletal disorders : 2010 revision

    Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow

  • Nosology and classification of genetic skeletal disorders: 2015 revision

    Luisa Bonafe;Valerie Cormier-Daire;Christine Hall;Ralph Lachman

  • Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

    Jan Hellemans;Olena Preobrazhenska;Andy Willaert;Philippe Debeer

  • Nosology and classification of genetic skeletal disorders: 2019 revision.

    Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall

  • Osteopetrosis

    Zornitza Stark;Ravi Savarirayan

  • A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

    Zornitza Stark;Tiong Y. Tan;Belinda Chong;Gemma R. Brett

  • Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

    Tiong Yang Tan;Oliver James Dillon;Zornitza Stark;Deborah Schofield;Deborah Schofield

  • Amelogenesis imperfecta: a classification and catalogue for the 21st century.

    M. J. Aldred;R. Savarirayan;R. Savarirayan;P. J. M. Crawford

  • Mutations in PYCR1 cause cutis laxa with progeroid features

    Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  • Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

    Simone Martinelli;Alessandro De Luca;Emilia Stellacci;Cesare Rossi

  • Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial.

    Anna Agnes Ahimastos;Anuradha Aggarwal;Kellie D'Orsa;Melissa Formosa

  • Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

    John F. Bateman;Susanna Freddi;Gary Nattrass;Ravi Savarirayan

  • 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

  • C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia

    Ravi Savarirayan;Melita Irving;Carlos A. Bacino;Bret Bostwick

  • Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

    Shireen R Lamandé;Shireen R Lamandé;Yuan Yuan;Irma L Gresshoff;Irma L Gresshoff;Lynn Rowley

  • Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

    Pleasantine Mill;Paul J Lockhart;Elizabeth B Fitzpatrick;Hayley S. Mountford

  • International guidelines for the management and treatment of Morquio A syndrome.

    Christian J. Hendriksz;Kenneth I. Berger;Roberto Giugliani;Paul Harmatz

  • Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

    Siddharth Banka;Siddharth Banka;Damien Lederer;V. Benoit;E. Jenkins

  • Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

    Gail C. Jackson;Laureane Mittaz‐Crettol;Jacqueline A. Taylor;Geert R. Mortier

  • 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

Frequent Co-Authors

David J. Amor
David J. Amor Murdoch Children's Research Institute
John F. Bateman
John F. Bateman University of Melbourne
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Susan M. White
Susan M. White University of Arizona
Zornitza Stark
Zornitza Stark University of Melbourne
Ralph S. Lachman
Ralph S. Lachman University of California, Los Angeles
David L. Rimoin
David L. Rimoin Cedars-Sinai Medical Center
Stephen P. Robertson
Stephen P. Robertson University of Otago
Eric Haan
Eric Haan University of Adelaide
David A. Mackey
David A. Mackey University of Western Australia

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