Marta Romani

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

Sabrina Prudente, Prapaporn Jungtrakoon, Antonella Marucci et al. · The American Journal of Human Genetics · 2015 · 141 citations · Full text

Genetic Disorder, Genetics, Diabetes +4

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Chunmei Li, Victor L. Jensen, Kwangjin Park et al. · PLoS Biology · 2016 · 134 citations · Full text

A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre et al. · Human Mutation · 2013 · 126 citations · Full text

Neurogenomics, Joubert Syndrome, Lysosomal Storage Disease +23

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

<i>GNAO1</i> encephalopathy

Federica Rachele Danti, Serena Galosi, Marta Romani et al. · Neurology Genetics · 2017 · 102 citations · Full text