Nicola Ragge

Mutations in SOX2 cause anophthalmia

Judy Fantes, Nicola Ragge, Sally Ann Lynch et al. · Nature Genetics · 2003 · 538 citations · Full text

Ocular Disease, Ophthalmology, Genetics +4

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 · 309 citations · Full text

Ocular Disease, Ophthalmology, Genetics +3

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

Knockout Mouse, Developmental Biology, Hedgehog Signaling Pathways +8

<i>SOX2</i> anophthalmia syndrome

Nicola Ragge, Birgit Lorenz, Adele Schneider et al. · American Journal of Medical Genetics Part A · 2005 · 225 citations

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