Ravi Savarirayan

Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study

Med 2024cited by 16position: firstdoi

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A 2023cited by 355position: middledoi

Vosoritide therapy in children with achondroplasia aged 3−59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial

The Lancet Child & Adolescent Health 2023cited by 60position: firstdoi

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study

Genetics in Medicine 2022cited by 27position: firstdoi

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

Nature Reviews Endocrinology 2021cited by 181position: firstdoi

Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Bone 2021cited by 107position: lastdoi

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

Genetics in Medicine 2021cited by 93position: firstdoi

Pharmacokinetics and Exposure–Response of Vosoritide in Children with Achondroplasia

Clinical Pharmacokinetics 2021cited by 38position: middledoi

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

The Lancet 2020cited by 194position: firstdoi

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

The American Journal of Human Genetics 2020cited by 44position: middledoi

Nosology and classification of genetic skeletal disorders: 2019 revision

American Journal of Medical Genetics Part A 2019cited by 603position: middledoi

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia

New England Journal of Medicine 2019cited by 215position: firstdoi

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

The American Journal of Human Genetics 2019cited by 37position: middledoi

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Human Mutation 2018cited by 52position: middledoi

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

JAMA Pediatrics 2017cited by 325position: middledoi

Nosology and classification of genetic skeletal disorders: 2015 revision

American Journal of Medical Genetics Part A 2015cited by 562position: middledoi

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy

American Journal of Medical Genetics Part A 2015cited by 73position: lastdoi

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Journal of Medical Genetics 2015cited by 32position: middledoi

International guidelines for the management and treatment of Morquio A syndrome

American Journal of Medical Genetics Part A 2014cited by 138position: lastdoi

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