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Clinical Pharmacokinetics|August 25, 2021
Pharmacokinetics and Exposure-Response of Vosoritide in Children with AchondroplasiaMing Liang Chan, Yulan Qi, Kevin Larimore, et al.
European Journal of Endocrinology|February 1, 2021
Semen quality and testicular adrenal rest tumour development in 46,XY congenital adrenal hyperplasia: the importance of optimal hormonal replacementJulia Rohayem, Lena Maria Bäumer, Michael Zitzmann, et al.
Journal of Inherited Metabolic Disease|April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylationAnna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
Wellcome Open Research|August 27, 2020
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndromeIndraneel Banerjee, Senthil Senniappan, Thomas W Laver, et al.
Advances in Therapy|October 26, 2023
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical PracticeOliver Semler, Valérie Cormier-Daire, Ekkehart Lausch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2026
Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registryJulian Teinert, Florian Gleich, Viktor Kozich, et al.
American Journal of Medical Genetics. Part A|May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical GeneticsBenjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.
Orphanet Journal of Rare Diseases|June 26, 2023
Real-world evidence in achondroplasia: considerations for a standardized data setYasemin Alanay, Klaus Mohnike, Ola Nilsson, et al.
Orphanet Journal of Rare Diseases|March 16, 2023
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational studyMohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, et al.
Genome Medicine|March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severityJasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.
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