William Reardon
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Craniofacial Disorders and Treatments, Hearing, Cochlea, Tinnitus, Genetics, Genetics and Neurodevelopmental Disorders, Cleft Lip and Palate Research
Most-Cited Works
- → Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome(1995)929 cited
- → Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes(2008)806 cited
- → Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome(1994)766 cited
- → Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy(1992)727 cited
- → A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome(1994)622 cited
- → Hereditary Hearing Loss and its Syndromes(1995)511 cited
- → Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes(1995)456 cited
- → Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1(2008)444 cited
- → Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA(1992)412 cited
- Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.(1993)