Annabella Marozza

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Vittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli et al. · American Journal of Medical Genetics Part A · 2014 · 99 citations

Life Sciences, Genetics, Molecular Genetics +17

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (<i>PARN</i>)

Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau et al. · Journal of Medical Genetics · 2015 · 95 citations

Medicine, Genetics, Molecular Genetics +17

Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

Rosangela Artuso, Maria Antonietta Mencarelli, Roberta Polli et al. · Brain and Development · 2009 · 73 citations

Medicine, Neurology, Neuroscience +15

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Marzia Pollazzon, Tiina Suominen, Sini Penttilä et al. · Journal of Neurology · 2009 · 56 citations

Medicine, Genetics, Molecular Genetics +11