C McKeown
Publications by Year
Research Areas
Congenital Heart Disease Studies, Prenatal Screening and Diagnostics, Connective tissue disorders research, Congenital heart defects research, Genetic Syndromes and Imprinting
Most-Cited Works
- → Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.(1997)1,194 cited
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis(2000)391 cited
- → Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation(2005)320 cited
- → PPIB Mutations Cause Severe Osteogenesis Imperfecta(2009)298 cited
- → The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat(2006)289 cited
- → Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract(1997)213 cited
- → A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)(2005)142 cited
- → Genomic imprinting in an Angelman and Prader-Willi translocation family(1991)140 cited
- → Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene(2000)137 cited