Ravi Savarirayan

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire et al. · American Journal of Medical Genetics Part A · 2019 · 592 citations

Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall et al. · American Journal of Medical Genetics Part A · 2015 · 556 citations

Osteopathy, Genetics, Genetic Epidemiology +20

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

Jan Hellemans, Olena Preobrazhenska, Andy Willaert et al. · Nature Genetics · 2004 · 454 citations · Full text

Lemd3 Result, Developmental Biology, Sclerostin +9

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 et al. · Genetics in Medicine · 2016 · 399 citations · Full text

Mendelian Disorder, Genetic Disorder, Whole-exome Sequencing +12

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

Tiong Yang Tan, Oliver James Dillon, Zornitza Stark et al. · JAMA Pediatrics · 2017 · 318 citations