Roberta Mancini

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Chiara Fallerini, Laura Dosa, Rossella Tita et al. · Clinical Genetics · 2013 · 140 citations

Relevant Fraction, Next Generation, Mendelian Disorder +14

Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling

Marco Benevento, Giovanni Iacono, Martijn Selten et al. · Neuron · 2016 · 105 citations · Full text

Histone Modifications, Chromatin, Synaptic Plasticity +10

Degradation of unassembled soluble Ig subunits by cytosolic proteasomes: evidence that retrotranslocation and degradation are coupled events

Roberta Mancini, Claudio Fagioli, C. Maggioni et al. · The FASEB Journal · 2000 · 96 citations

Cytosolic Proteasomes, Protein Assembly, Proteasome +20

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome

Elena Marcocci, Vera Uliana, Mirella Bruttini et al. · Nephrology Dialysis Transplantation · 2009 · 93 citations · Full text

Advances in Alport syndrome diagnosis using next-generation sequencing

Rosangela Artuso, Chiara Fallerini, Laura Dosa et al. · European Journal of Human Genetics · 2011 · 82 citations · Full text

Mendelian Disorder, Medicine, Genetics +7