Christine Oley

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

Derek H.K. Lim, Sarah Bowdin, Louise Tee et al. · Human Reproduction · 2008 · 274 citations

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Elfride De Baere, Diane Beysen, Christine Oley et al. · The American Journal of Human Genetics · 2003 · 240 citations · Full text

Biology, Mutational Hotspots, Allelic Variant +9

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer et al. · European Journal of Medical Genetics · 2009 · 215 citations

Developmental Biology, Genetic Disorder, Genetics +7

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka, Ratna Veeramachaneni, William Reardon et al. · European Journal of Human Genetics · 2011 · 180 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +13

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Neil V. Morgan, Louise Brueton, P. Cox et al. · The American Journal of Human Genetics · 2006 · 162 citations · Full text

Developmental Biology, Signal Transduction, Mendelian Disorder +7