Ravi Savarirayan - Concepedia

Author

Ravi Savarirayan

Also Known As

A. Kidd, R SAVARIRAYAN, R Savarirayan, R. SAVARIRAYAN, R. Savarirayan, RAVI SAVARIRAYAN, Ravi Savarirayan, Savarirayan R, Savarirayan, Ravi

619

Publications

12.5K

Citations

H-Index

144

Concepts

All Affiliations

The University of Melbourne Murdoch Children's Research Institute Victorian Clinical Genetics Services Royal Children's Hospital Women's and Children's Hospital

About

Ravi Savarirayan is an author at The University of Melbourne specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	33	53	4.5K
2	Public Health	8	8	772
3	Engineering	1	1	29
4	Natural Sciences	1	1	97
5	Social Sciences	1	1	17

Ravi Savarirayan

136

Publications

9.1K

Citations

H-Index

Page 1

	Year	Citations
Nosology and classification of genetic skeletal disorders: 2019 revision Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire, American Journal of Medical Genetics Part A	2019	592
Nosology and classification of genetic skeletal disorders: 2015 revision Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, American Journal of Medical Genetics Part A OsteopathyGeneticsGenetic EpidemiologyDisease Gene IdentificationGenomics	2015	556
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis Jan Hellemans, Olena Preobrazhenska, Andy Willaert, Nature Genetics Lemd3 ResultDevelopmental BiologySclerostinBone Morphogenic ProteinPathogenesis	2004	454
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Zornitza Stark, Tiong Yang Tan, Belinda Chong, Genetics in Medicine Mendelian DisorderGenetic DisorderWhole-exome SequencingGeneticsMedicine	2016	399
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, JAMA Pediatrics	2017	318
Nosology of genetic skeletal disorders: 2023 revision Sheila Unger, Carlos R. Ferreira, Geert Mortier, American Journal of Medical Genetics Part A	2023	318
Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype Simone Martinelli, Alessandro De Luca, Emilia Stellacci, The American Journal of Human Genetics Tumor BiologySomatic VariantMendelian DisorderGenetic DisorderGenetics	2010	254
Mutations in PYCR1 cause cutis laxa with progeroid features Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou, Nature Genetics BiologyPlant BiologyGeneticsPathogenesisPlant Pathology	2009	252
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia Ravi Savarirayan, Melita Irving, Carlos A. Bacino, New England Journal of Medicine	2019	205
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, The Lancet Subcutaneous Vosoritide TherapyPediatricsMulticentre TrialMedicinePhase 3	2020	184

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