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American Journal of Human Genetics|February 7, 2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyMatthew A Lines, Lijia Huang, Jeremy Schwartzentruber, et al.Nature|May 25, 2022
Defining mitochondrial protein functions through deep multiomic profilingJarred W Rensvold, Evgenia Shishkova, Yuriy Sverchkov, et al.Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.Human Mutation|April 28, 2012
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisMathilde Nizon, Céline Huber, Fabio De Leonardis, et al.Lancet (London, England)|September 6, 2020
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trialRavi Savarirayan, Louise Tofts, Melita Irving, et al.Frontiers in Public Health|October 12, 2023
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicatorsSavino Sciascia, Dario Roccatello, Marco Salvatore, et al.Frontiers in Public Health|March 20, 2023
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network InternationalDomenica Taruscio, Marco Salvatore, Aimè Lumaka, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2021
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension studyRavi Savarirayan, Louise Tofts, Melita Irving, et al.Genome Medicine|May 12, 2026
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disordersBeatrice Valtorta, Zuzana Polackova, Reza Maroofian, et al.Pageof 15