Nicola K. Ragge

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Heterozygous mutations of OTX2 cause severe ocular malformations.

B. Lorenz, S. Sisodiya, A. Fielder, 2005, American journal of human genetics.

Mutations in SOX2 cause anophthalmia

C. Hayward, D. Fitzpatrick, S. Lynch, 2003, Nature Genetics.

Mutation analysis of the STRA6 gene in isolated and non‐isolated anophthalmia/microphthalmia

P. Calvas, N. Chassaing, A. Kariminejad, 2013, Clinical genetics.

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.

A. Wilkie, D. Stephens, D. Ravine, 1997, American journal of medical genetics.

Phenotypic variability in monozygotic twins with neurofibromatosis 2.

S. Pulst, V. Riccardi, M. Baser, 1996, American journal of medical genetics.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

L. Vissers, R. Pfundt, B. D. de Vries, 2017, American journal of human genetics.

Clinical and genetic patterns of neurofibromatosis 1 and 2.

N. Ragge, Nicola K. Ragge, 1993, The British journal of ophthalmology.

Ocular abnormalities in neurofibromatosis 2.

S. Pulst, J. Sainz, V. Riccardi, 1996, American journal of ophthalmology.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

Tomas W. Fitzgerald, Stephen W. Wilson, N. Carter, 2009, Human Genetics.