M. Romani

E. Bertini, R. Borgatti, E. Valente, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report.

R. Borgatti, E. Valente, A. Tavano, 2015, Research in developmental disabilities.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

T. Mazza, H. Van Esch, H. Kayserili, 2016, Journal of Medical Genetics.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

E. Valente, J. Rivière, J. Reiter, 2016, PLoS biology.

Molecular Genetics of Joubert Syndrome

E. Valente, F. Mancini, A. Micalizzi, 2014 .

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

Colin A. Johnson, S. Gabriel, T. Ideker, 2015, eLife.

Conventional Protein Kinase C Inhibition Prevents Alpha Interferon-Mediated Hepatitis C Virus Replicon Clearance by Impairing STAT Activation

Mauro Piacentini, Federica Fratini, Marco Tripodi, 2004, Journal of Virology.

Cognitive, adaptive, and behavioral features in Joubert syndrome

E. Bertini, M. Zoppello, D. Riva, 2016, American journal of medical genetics. Part A.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

Tommaso Mazza, Jessica Rosati, William B Dobyns, 2017, American journal of human genetics.

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

T. Mazza, E. Valente, T. Biagini, 2016, neurogenetics.

Infantile and childhood onset PLA2G6‐associated neurodegeneration in a large North African cohort

C. Drissi, T. Mazza, S. Castellana, 2015, European journal of neurology.

“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

Tommaso Mazza, Enza Maria Valente, Marta Romani, 2016, Neurology: Genetics.

A solid quality-control analysis of AB SOLiD short-read sequencing data

Tommaso Mazza, Enza Maria Valente, Stefano Castellana, 2013, Briefings Bioinform..

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

T. Mazza, H. Van Esch, H. Kayserili, 2016, Journal of Medical Genetics.

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

T. Mazza, E. Valente, T. Biagini, 2016, Neurogenetics.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

E. Bertini, L. Di Marcotullio, T. Mazza, 2017, American journal of human genetics.

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.

S. Pascarella, T. Mazza, P. Marchetti, 2015, American journal of human genetics.