Luciana Musante
IRCCS Materno Infantile Burlo Garofolo(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, RNA modifications and cancer, Protein Tyrosine Phosphatases, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Deep sequencing reveals 50 novel genes for recessive cognitive disorders(2011)982 cited
- → Germline KRAS mutations cause Noonan syndrome(2006)738 cited
- → Genetics of intellectual disability in consanguineous families(2018)210 cited
- → A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation(2008)204 cited
- → Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation(2003)168 cited
- → De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome(2013)163 cited
- → Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome(2003)162 cited
- → Genetics of recessive cognitive disorders(2013)128 cited
- → Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation(2016)120 cited
- → The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families(2015)90 cited