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Publications by Patrick S Tarpey

Identification and Characterization of Two Novel JARID1C Mutations: Suggestion of an Emerging Genotype-Phenotype Correlation

European Journal of Human Genetics

English

Somatic Mutations of the Histone H3K27 Demethylase Gene UTX in Human Cancer

Nature Genetics

English

Related publications

Distribution and Genotype-Phenotype Correlation of GDAP1 Mutations in Spain

Scientific Reports

Multidisciplinary

English

Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation

Journal of Data Mining in Genomics & Proteomics

English

Two Novel Mutations of the GTP Cyclohydrolase 1 Gene and Genotype–phenotype Correlation in Chinese Dopa-Responsive Dystonia Patients

European Journal of Human Genetics

English

Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation

English

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics

English

Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

Molecular Syndromology

English

Phenotype/Genotype Correlation in a Case Series of Stargardt’s Patients Identifies Novel Mutations in the ABCA4 Gene

Sensory Systems

English

Genotype–Phenotype Correlation of MousePde6bMutations

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

American Journal of Human Genetics

English