Marisol Mirabelli-Badenier

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

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli et al. · Orphanet Journal of Rare Diseases · 2011 · 53 citations · Full text

The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

Paola Feraco, Marisol Mirabelli-Badenier, Mariasavina Severino et al. · American Journal of Neuroradiology · 2012 · 52 citations · Full text

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems

Valeria Capra, Marisol Mirabelli-Badenier, Michela Stagnaro et al. · BMC Medical Genetics · 2012 · 40 citations · Full text

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

Roberta Biancheri, Denise Cassandrini, Francesca Pinto et al. · Journal of Neurology · 2013 · 36 citations

Isolated Cerebellar Hypoplasia, Spinal Cord Injury, Developmental Biology +7