Juliane Eckhold

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

Functional Characterization of the <i>GUCY1A3</i> Coronary Artery Disease Risk Locus

Thorsten Kessler, Jana Wobst, Bernhard Wolf et al. · Circulation · 2017 · 103 citations · Full text

Medicine, Cardiology, Genetics +17

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 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

Diana Braunholz, Carolin Obieglo, Ilaria Parenti et al. · Human Mutation · 2014 · 34 citations

Life Sciences, Genetics, Molecular Genetics +17

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