María Concepción Gil‐Rodríguez

RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff, Jonathan J. Wilde, Melanie Albrecht et al. · The American Journal of Human Genetics · 2012 · 270 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

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 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

<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 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Diana Braunholz, Melanie Hullings, María Concepción Gil‐Rodríguez et al. · European Journal of Human Genetics · 2011 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5