Beatriz Puisac

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 146 citations · Full text

Genetics, Immunodeficiencies, Genetic Epidemiology +27

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 88 citations · Full text

Lysosomal Storage Disease, Genetics, Immunodeficiencies +25

Mutations and variants in the cohesion factor genes <i>NIPBL</i>, <i>SMC1A</i>, and <i>SMC3</i> in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

Juan Pié, María Concepción Gil‐Rodríguez, Milagros Ciero et al. · American Journal of Medical Genetics Part A · 2010 · 82 citations · Full text

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Ana Latorre, Ángela Ascaso, Laura Trujillano et al. · International Journal of Molecular Sciences · 2020 · 69 citations · Full text

Identify Cornelia, Biometrics, Genetic Epidemiology +23

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

Ilaria Parenti, Farah Diab, Sara Ruiz Gil et al. · Cell Reports · 2020 · 57 citations · Full text