Gloria Negri

Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the <i><scp>EP300</scp></i> gene

Gloria Negri, Donatella Milani, P. Colapietro et al. · Clinical Genetics · 2014 · 88 citations

Medicine, Genetics, Molecular Genetics +17

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Daniela Rusconi, Gloria Negri, Patrizia Colapietro et al. · Human Genetics · 2015 · 88 citations

Life Sciences, Genetics, Molecular Genetics +7

Insights into genotype–phenotype correlations from <i><scp>CREBBP</scp></i> point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

Silvia Spena, Donatella Milani, Daniele Rusconi et al. · Clinical Genetics · 2014 · 66 citations

Life Sciences, Genetics, Molecular Genetics +17

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Elisa Adele Colombo, J. Fernando Bazán, Gloria Negri et al. · Orphanet Journal of Rare Diseases · 2012 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

From Whole Gene Deletion to Point Mutations of<i>EP300</i>-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Gloria Negri, Pamela Magini, Donatella Milani et al. · Human Mutation · 2015 · 48 citations

Life Sciences, Genetics, Molecular Genetics +17