J. R. O. Collin

Mutations in SOX2 cause anophthalmia

Judy Fantes, Nicola Ragge, Sally Ann Lynch et al. · Nature Genetics · 2003 · 543 citations

Medicine, Genetics, Molecular Genetics +9

Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Nicola Ragge, Alison G. M. Brown, Charlotte M. Poloschek et al. · The American Journal of Human Genetics · 2005 · 310 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with <i>FOXC2</i> mutations or linkage to 16q24

Glen Brice, Sahar Mansour, R. Bryan Bell et al. · Journal of Medical Genetics · 2002 · 286 citations · Full text

Life Sciences, Dermatology, Genetics +7

Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways

Preeti Bakrania, Maria Efthymiou, Johannes Klein et al. · The American Journal of Human Genetics · 2008 · 249 citations · Full text

Life Sciences, Developmental Biology, Genetics +16

<i>SOX2</i> anophthalmia syndrome

Nicola Ragge, Birgit Lorenz, Adele Schneider et al. · American Journal of Medical Genetics Part A · 2005 · 228 citations

Medicine, Ophthalmology, Vision Science +15