Loredana Boccone

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati et al. · Nature Genetics · 2006 · 400 citations

Developmental Biology, Mendelian Disorder, Joubert Syndrome +9

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio et al. · The American Journal of Human Genetics · 2014 · 116 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Genetic Disorder +4

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Immunodeficiencies, Genetics, Pathology +20

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Pia Hermanns, Sheila Unger, Antonio Rossi et al. · The American Journal of Human Genetics · 2008 · 102 citations · Full text

Carbohydrate Sulfotransferase 3, Recessive Larsen Syndrome, Orthopaedic Surgery +1

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Viviana Caputo, L Cianetti, Marcello Niceta et al. · The American Journal of Human Genetics · 2012 · 99 citations · Full text