Andrew H. Crosby
University of Exeter(GB)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome(2001)1,728 cited
- → Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)(2000)1,097 cited
- → PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity(2002)787 cited
- → Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms(2008)545 cited
- → Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase(2004)385 cited
- → Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome(2004)377 cited