André Travessa

Fifteen Years of Clinical Trials in Huntington’s Disease: A Very Low Clinical Drug Development Success Rate

André Travessa, Filipe B. Rodrigues, Tiago Mestre et al. · Journal of Huntington s Disease · 2017 · 67 citations

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Elena J. Tucker, Rocío Rius, Sylvie Jaillard et al. · Human Genetics · 2020 · 40 citations

Diverse Molecular Causes, Mendelian Disorder, Disease Mechanism +13

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice

Oliver Semler, Valérie Cormier‐Daire, Ekkehart Lausch et al. · Advances in Therapy · 2023 · 27 citations · Full text

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona et al. · European Journal of Endocrinology · 2021 · 22 citations · Full text

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

Ariane Schmetz, Hermann‐Josef Lüdecke, Harald Surowy et al. · Human Genetics · 2023 · 22 citations

Coffin–siris Syndrome, Genetic Disorder, Genetics +5