Oana Moldovan

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

Antonio J. Vallejo‐Vaz, Christophe Stevens, Alexander R.M. Lyons et al. · The Lancet · 2021 · 285 citations · Full text

Family Medicine, Metabolic Syndrome, Lipid Disorder +10

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Sandra Whalen, Delphine Héron, Thierry Gaillon et al. · Human Mutation · 2011 · 128 citations

Missense Mutations, Clinical Diagnosis Score, Genetics +19

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro et al. · BMC Medical Genetics · 2011 · 90 citations · Full text

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela Jones, Pia Østergaard, Anthony T. Moore et al. · European Journal of Human Genetics · 2013 · 90 citations · Full text

Genetic Disorder, Kif11 Mutations, Pathology +6

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández‐Marmiesse, Iria Roca, Felícitas Díaz-Flores et al. · Frontiers in Neuroscience · 2019 · 60 citations · Full text