Pierangela Castorina

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 551 citations · Full text

Genetic Disorder, Genetics, Audiology +9

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Montserrat Rodríguez-Ballesteros, Raúl Reynoso, M. A. Gil Olarte et al. · Human Mutation · 2008 · 178 citations

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

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

Angela Sparago, Silvia Russo, Flavia Cerrato et al. · Human Molecular Genetics · 2006 · 110 citations · Full text

Early Volume Expansion and Outcomes of Hemolytic Uremic Syndrome

Gianluigi Ardissino, Francesca Tel, Ilaria Possenti et al. · PEDIATRICS · 2015 · 109 citations · Full text