N. Ragge

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Large-scale discovery of novel genetic causes of developmental disorders

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

Imaging studies in congenital anophthalmia reveal preservation of brain architecture in 'visual' cortex.

A. Cowey, H. Bridge, K. Watkins, 2009, Brain : a journal of neurology.

Early Auditory Processing in Area V5/MT+ of the Congenitally Blind Brain

A. Cowey, H. Bridge, K. Watkins, 2013, The Journal of Neuroscience.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

A. Munnich, J. Clayton-Smith, S. Hanein, 2013, American journal of human genetics.

Language networks in anophthalmia: maintained hierarchy of processing in 'visual' cortex.

Nicola Filippini, Holly Bridge, Alan Cowey, 2012, Brain : a journal of neurology.

The ocular presentation of neurofibromatosis 2

V. Riccardi, M. Baser, N. Ragge, 1997, Eye.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS)

D. Baralle, M. Patton, R. Winter, 2003, American journal of medical genetics. Part A.

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies

A. D. den Hollander, E. Traboulsi, J. Malicki, 2010, BMC Genetics.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.

S. Pulst, J. Sainz, D. Huynh, 1994, Human molecular genetics.

Role of SOX2 Mutations in Human Hippocampal Malformations and Epilepsy

J. Stevens, B. Lorenz, S. Sisodiya, 2006, Epilepsia.

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

C. Ponting, H. Johansen-Berg, J. Klein, 2008, American journal of human genetics.

Loss of alleles in vestibular schwannomas: use of microsatellite markers on chromosome 22.

S. Pulst, J. Sainz, M. Baser, 1993, Archives of otolaryngology--head & neck surgery.

The fate of the oculomotor system in clinical bilateral anophthalmia

A. Cowey, H. Bridge, K. Watkins, 2012, Visual Neuroscience.

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

P. Donahoe, N. S. Thomas, S. Kantarci, 2008, American journal of medical genetics. Part A.

Phenotypic variability in monozygotic twins with neurofibromatosis 2.

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

Midbrain myasthenia

W. Hoyt, N. Ragge, 1992, Neurology.

FOXE3 mutations: genotype‐phenotype correlations

P. Calvas, N. Chassaing, H. Dollfus, 2018, Clinical genetics.

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy

A. Wyatt, G. Holder, E. Blair, 2010, Human Genetics.

Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies

J. Ragoussis, K. Kaur, N. Ragge, 2009, Molecular vision.

A practical guide to the management of anophthalmia and microphthalmia

N. Ragge, J. Collin, I. Subak-Sharpe, 2007, Eye.

SOX2 anophthalmia syndrome

B. Lorenz, S. Sisodiya, K. Bushby, 2005, American journal of medical genetics. Part A.

Branchio–oculo–facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality

N. Ragge, Hannah L. Titheradge, C. Patel, 2015, Clinical dysmorphology.

Identification of PITX3 mutations in individuals with various ocular developmental defects

P. Calvas, N. Chassaing, M. Cortón, 2018, Ophthalmic 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.

CONGENITAL MUSCULAR DYSTROPHIES P.198 TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain

F. Muntoni, I. Nishino, W. Liang, 2020, Neuromuscular Disorders.

Through the looking glass: eye anomalies in the age of molecular science

P. Calvas, E. Traboulsi, N. Ragge, 2019, Human Genetics.

Neurofibromatosis Type 2: Recognising Cortical-and Retinal Dysplasia as Early Diagnostic Indicators

S. Sharif, J. Radley, N. Ragge, 2019 .

NAA10 polyadenylation signal variants cause syndromic microphthalmia

Jeffrey N. Dudley, R. Holt, A. Schäffer, 2019, Journal of Medical Genetics.

Ocular Abnormalities in Neurofibromatosis 2

S. Pulst, J. Sainz, V. Riccardi, 1995 .

Investigating Developmental Plasticity in Human Anophthalmia

A. Cowey, H. Bridge, K. Watkins, 2008 .

Iris mammillations: Significance and associations

N. Ragge, A. Murphree, J. Acheson, 1996, Eye.

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

P. Calvas, N. Chassaing, N. Ragge, 2019, Human Genetics.

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia

F. Rivier, O. Patat, P. Calvas, 2016, American journal of medical genetics. Part A.

Ocular abnormalities in neurofibromatosis 2.

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

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

R. Holt, P. Calvas, N. Chassaing, 2018, Human Genetics.

Ancient neurofibromatosis

F. Munier, N. Ragge, 1994, Nature.

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

G. Mirza, J. Ragoussis, M. Farrall, 2009, Human mutation.

The surgical management of childhood orbito-temporal neurofibromatosis.

N. Ragge, J. Collin, V. Lee, 2003, British journal of plastic surgery.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

A. Wyatt, J. Crolla, A. Fielder, 2007, British Journal of Ophthalmology.

Mutations in SOX2 cause anophthalmia

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

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus

C. Harris, N. Ragge, I. Russell-Eggitt, 2003, Journal of medical genetics.

The management of orbital cysts associated with congenital microphthalmos and anophthalmos

N. Ragge, J. Collin, C. Mclean, 2003, The British journal of ophthalmology.

Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation

A. Salt, N. Ragge, P. Farndon, 2005, British Journal of Ophthalmology.

Images of Lisch nodules across the spectrum

N. Ragge, A. Murphree, R. Falk, 1993, Eye.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

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.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

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.

Orbitotemporal neurofibromatosis. Clinical features and surgical management.

N. Ragge, J. Collin, V. Lee, 2004, Ophthalmology.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

R. Pfundt, K. Heimdal, R. Hennekam, 2018, American journal of medical genetics. Part A.

Heterozygous mutations of OTX2 cause severe ocular malformations.

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

J. Sebat, C. Corsello, T. de Ravel, 2017, Journal of Medical Genetics.

Clinical and genetic patterns of neurofibromatosis 1 and 2.

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

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

R. Holt, P. Calvas, N. Chassaing, 2019, Human Genetics.

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

R. Holt, W. Sossin, F. Alkuraya, 2020, Human molecular genetics.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

R. Pfundt, W. Chung, S. Küry, 2021, European Journal of Human Genetics.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

R. Pfundt, B. D. de Vries, E. Zackai, 2020, Genetics in Medicine.

Parent-of-origin effects in SOX2 anophthalmia syndrome

R. Osborne, N. Ragge, J. Kurinczuk, 2011, Molecular vision.

frequency of large gene deletions demonstrating broader phenotype and high SOX2 anophthalmia syndrome: twelve new cases

A. Wyatt, J. Crolla, A. Fielder, 2007 .

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations

S. Pulst, J. Sainz, V. Riccardi, 1996, Neurology.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Stephen W. Wilson, R. Holt, E. van Binsbergen, 2019, American journal of human genetics.

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

P. Calvas, N. Chassaing, D. Chitayat, 2013, American journal of human genetics.

Disruption of Capn15 in mice leads to brain and eye deficits

R. Holt, V. Fonov, W. Sossin, 2019, bioRxiv.

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.

Statins, fibrates, and ocular myasthenia

P. Francis, N. Ragge, B. Parmar, 2002, The Lancet.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

Luciana Rodrigues da Silva, R. Holt, P. Calvas, 2018, Human Genetics.

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

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

P. Calvas, N. Chassaing, C. Gilissen, 2020, Journal of Human Genetics.

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency

A. Wyatt, M. Phillip, T. Ogata, 2010, Human Genetics.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Robert W. Taylor, J. Casey, A. Vanderver, 2016, Journal of Medical Genetics.

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

Robert W. Taylor, D. Milford, N. Ragge, 2016, BMC Research Notes.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

W. Newman, P. Calvas, N. Chassaing, 2018, Human Genetics.

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders

R. Holt, D. Gerrelli, D. Bax, 2017, Scientific Reports.

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies

H. Stewart, R. Osborne, N. Ragge, 2010, Human mutation.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

D. Bax, M. Dunn, N. Ragge, 2022, European Journal of Human Genetics.

Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk.

Amy E Taylor, J. Rahi, C. Gilbert, 2011, Investigative ophthalmology & visual science.

MLGA: a cost-effective approach to the diagnosis of gene deletions in eye development anomalies

A. Wyatt, N. Ragge, 2009, Molecular vision.

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders

R. Holt, D. Gerrelli, D. Bax, 2016, Human Genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

A. Wyatt, J. Crolla, R. Newbury-Ecob, 2008, Human mutation.

Early midline interactions are important in mouse optic chiasm formation but are not critical in man: a significant distinction between man and mouse

Glen Jeffery, G. Holder, J. Sloper, 2006, The European journal of neuroscience.

Isolated congenital hemianopia caused by prenatal injury to the optic radiation.

W. Hoyt, A. Barkovich, N. Ragge, 1991, Archives of neurology.

Phakomatosis pigmentovascularis type IIb with iris mammillations.

N. Ragge, J. Bolognia, A. Gilliam, 1993, Archives of dermatology.

Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression

D. Halliday, R. Jena, M. Kellett, 2023, Neuro-oncology advances.

Infrequent Mutation of the p53 Gene in Fibrous Tumors of Infancy and Childhood

T. Triche, N. Ragge, Julius Peters, 1993, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

A. Christoforou, D. Fitzpatrick, I. Hanson, 2004, Investigative ophthalmology & visual science.

Big discs with optic nerve hypoplasia.

W. Hoyt, N. Ragge, S. Lambert, 1991, Journal of clinical neuro-ophthalmology.

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

R. Holt, J. Clayton-Smith, P. Calvas, 2022, Ophthalmic genetics.

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies

A. Wyatt, A. Salt, N. Ragge, 2010, American journal of medical genetics. Part A.

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders

R. Holt, D. Gerrelli, D. Bax, 2017, Scientific Reports.

Dominant inheritance of optic pits.

A. Wilkie, D. Ravine, N. Ragge, 1998, American journal of ophthalmology.

Multiple cilioretinal arteries and dysplasia of the optic disc.

W. Hoyt, N. Ragge, L. Barroso, 1991, Journal of clinical neuro-ophthalmology.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations

R. Holt, N. Chassaing, D. Bax, 2023, Journal of Medical Genetics.

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

P. Calvas, N. Chassaing, D. Bax, 2023, European Journal of Human Genetics.