Simone Gana

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 244 citations

Life Sciences, Genetics, Molecular Genetics +10

<i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy

Riccardo Curró, Alessandro Salvalaggio, Stefano Tozza et al. · Brain · 2021 · 133 citations · Full text

Medicine, Neurology, Neuroscience +15

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

Simone Gana, Pierangelo Veggiotti, Giusy Sciacca et al. · European Journal of Human Genetics · 2012 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Loss-of-Function<i>FANCL</i>Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

Annalisa Vetro, Maria Iascone, Ivan Limongelli et al. · Human Mutation · 2015 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>SUFU</i> haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Valentina Serpieri, Fulvio D’Abrusco, Jennifer C. Dempsey et al. · Journal of Medical Genetics · 2021 · 36 citations · Full text

Life Sciences, Genetics, Neurology +17