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Neurology|February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental SyndromeMaike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.European Journal of Medical Genetics|November 29, 2019
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanismAditi Gupta, Nikita R Dsouza, Yuri A Zarate, et al.American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.The Lancet. Child & Adolescent Health|November 20, 2023
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trialRavi Savarirayan, William R Wilcox, Paul Harmatz, 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.Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, 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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2022
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational studyRavi Savarirayan, Melita Irving, Paul Harmatz, et al.American Journal of Human Genetics|December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable ImmunodeficiencyClare V Logan, Jennie E Murray, David A Parry, et al.Pageof 6