Romina Romaniello

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Susanne Roosing, Matan Hofree, Sehyun Kim et al. · eLife · 2015 · 120 citations · Full text

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Andrea Poretti, Giuseppina Vitiello, Raoul C. M. Hennekam et al. · Orphanet Journal of Rare Diseases · 2012 · 78 citations · Full text

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

Romina Romaniello, Claudio Zucca, A. Tonelli et al. · Journal of Neurology Neurosurgery & Psychiatry · 2010 · 64 citations

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Alessia Micalizzi, Andrea Poretti, Marta Romani et al. · European Journal of Human Genetics · 2016 · 59 citations · Full text

Molecular Characterization, Degenerative Disease, Neurology +4

A novel mutation in the β‐tubulin gene <i>TUBB2B</i> associated with complex malformation of cortical development and deficits in axonal guidance

Romina Romaniello, Alessandra Tonelli, Filippo Arrigoni et al. · Developmental Medicine & Child Neurology · 2012 · 57 citations · Full text