List of works by Luciana Musante

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

scientific article

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

scientific article

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

scientific article

Germline KRAS mutations cause Noonan syndrome

scientific article

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

scientific journal article

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

scientific journal article

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

scientific article

Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

scientific article

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

scientific journal article

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

scientific article (publication date: December 2003)

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

scientific journal article

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

scientific article published in February 2003

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