List of works - Raffaella Smith

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

scientific article

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

scientific article published on 22 May 2005

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

scientific article

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

scientific article

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

scientific article

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

scientific article

Lung cancer: intragenic ERBB2 kinase mutations in tumours

scientific article

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

scientific article

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

scientific article

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

scientific article

Recurrent KRAS codon 146 mutations in human colorectal cancer

scientific article published on August 2006

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

scientific article

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

scientific article published on 13 March 2008

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

scientific article

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

scientific article

Somatic mutations of the protein kinase gene family in human lung cancer

scientific article published on September 2005

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

scientific article

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

scientific article

List of works by Raffaella Smith

A hypermutation phenotype and somatic MSH6 mutations in recurrent human malignant gliomas after alkylator chemotherapy

A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancer

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

Lung cancer: intragenic ERBB2 kinase mutations in tumours

Mutation analysis of 24 known cancer genes in the NCI-60 cell line set.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

Recurrent KRAS codon 146 mutations in human colorectal cancer

Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults

Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer

Somatic mutations of the protein kinase gene family in human lung cancer

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment