Christine Oley
Birmingham Women's Hospital(GB)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetic Syndromes and Imprinting, Chromosomal and Genetic Variations, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals(1994)343 cited
- → Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies(2008)274 cited
- → FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation(2003)241 cited
- → Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome(2009)218 cited
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome(2006)163 cited
- → Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene(2003)134 cited
- → Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)(1988)127 cited
- → Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome(2005)116 cited
- Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.(1993)