Luciana Musante

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 975 citations

Neurodegenerative Diseases, Recessive Cognitive Disorders, Genetic Disorder +6

Germline KRAS mutations cause Noonan syndrome

Suzanne Schubbert, Martin Zenker, Sara L. Rowe et al. · Nature Genetics · 2006 · 736 citations

Germline Kras Mutations, Mendelian Disorder, Genetic Disorder +6

Genetics of intellectual disability in consanguineous families

Hao Hu, Kimia Kahrizi, Luciana Musante et al. · Molecular Psychiatry · 2018 · 206 citations

Intellectual Impairment, Complex Trait Genetics, Genetic Disorder +5

A balanced chromosomal translocation disrupting<i>ARHGEF9</i>is associated with epilepsy, anxiety, aggression, and mental retardation

Vera M. Kalscheuer, Luciana Musante, Cheng Fang et al. · Human Mutation · 2008 · 204 citations · Full text

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Vera M. Kalscheuer, Kristine Freude, Luciana Musante et al. · Nature Genetics · 2003 · 167 citations

Molecular Neuroscience, Mendelian Disorder, Psychiatry +10