Papers and Publications

UVRG Post holder
PubMed ID
Lopes MC, Hysi PG, Verhowven VJ, Macgregor S, Hewitt AW, Montgomery G, Cumberland P, Vingerling JR, Young T, van Duijn CM, Oostra B, Utterlinden AG, Rahi JS, Mackey DA, Klaver CC, Andrew T, Hammond CJ
Identification of a candidate gene for astigmatism
Invest Ophthalmol Vis Sci.
Lola Solebo

Solebo AL, Russell-Eggitt IM, Rahi JS on behalf of the BCCIG
Usefulness of routinely collected data for monitoring trends in paediatric ophthalmic surgery: lessons from the IOLunder2 study
Br J Ophthalmol

Walters BC, Rahi JS, Cumberland PM
Perimetry in children: survey of current practices in the United Kingdom and Ireland
Phillippa Cumberland
The CREAM Consortium
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia.  Human Genetics 2012 22665138
Lola Solebo Rahi JS and Solebo AL

Childhood Eye Disease and Visual Impairment. Chapter 7

Handbook on Children with Special Health Care Needs' 1st edition. Ed. D Hollar,

Lola Solebo
Solebo AL, Rahi J, Grehn F.
[Aphakic and pseudophakic glaucoma following pediatric cataract surgery].
2012 22274297
Daniel Kelberman
Lev Prasov, Tehmina Masud, Shagufta Khaliq, S. Qasim Mehdi, Aiysha Abid, Edward R. Oliver, Eduardo D. Silva, Amy Lewanda, Michael C. Brodsky, Mark Borchert, Daniel Kelberman, Jane C. Sowden, Mehul T. Dattani, Tom Glaser.
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
Human Molecular Genetics
Daniel Kelberman

Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelide M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ. 

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. 
AM J Hum Genet
2012 22284829
Phillippa Cumberland
Deborah Buck, Christine J Powell, Jugnoo Rahi, Phillippa Cumberland, Peter Tiffin, Robert Taylor, John Sloper, Helen Davis, Emma Dawson and Michael P Clarke. The improving outcomes in intermittent exotropia study: outcomes at 2 years after diagnosis in an observational cohort.
BMC Ophthalmology
2012 22257496
Daniel Kelberman Kelberman D, Islam L, Holder SE, Jacques TS, Calvas P, Hennekam RC, Nischal KK, Sowden JC. Digenic inheritance of mutations in FOXC1 and PITX2: correlating transcription factor function and Axenfeld-Rieger disease severity. Hum Mutat 2011
Phillippa Cumberland Rahi JS, Cumberland PM, Peckham CS Myopia Over the Lifecourse: Prevalence and Early Life Influences in the 1958 British Birth Cohor Ophthalmology 2011 21185080
Daniel Kelberman Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK. Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis. 2011 21738392
Daniel Kelberman Kelberman D, Islam L, Jacques TS, Russell-Eggitt I, Bitner-Glindzicz M, Khaw PT, Nischal KK, Sowden JC. CYP1B1-Related Anterior Segment Developmental Anomalies Novel Mutations for Infantile Glaucoma and Von Hippel's Ulcer Revisited. Ophthalmology 2011 21600657
Phillippa Cumberland Pathai S, Rahi J, Cumberland P Prevalence and prenatal influences on childhood strabismus: findings from the Millennium Cohort Study Archives of Paediatric and Adolescent Medicine 2010 20194258
Phillippa Cumberland Tadic V. Hamblion EL. Keeley S. Cumberland P. Lewando Hundt G. Rahi JS 'Silent voices' in health services research: ethnicity and socioeconomic variation in participation in studies of quality of life in childhood visual disability Investigative Ophthalmology & Visual Science 2010 19933181
Lola Solebo Nischal KK, Solebo L, Russell-Eggitt I Paediatric IOL implantation and postoperative refractive state: what role do study methodology and surgical technique play? Br J Ophthalmol 2010 20447961
Phillippa Cumberland Rahi JS, Cumberland PM, Peckham CS Improving detection of blindness in childhood: findings from the British Childhood Vision Impairment study Pediatrics 2010 20855395
Phillippa Cumberland Cumberland PM, Peckham CS, Rahi JS Blindness certification of children 1 year after diagnosis: findings from the British Childhood Vision Impairment study Br J Ophthalmol 2010 20813745
Phillippa Cumberland Cumberland PM, Pathai S, Rahi JS Prevalence of eye disease in early childhood and associated factors: findings from the millennium cohort study Ophthalmology 2010 20561688
Phillippa Cumberland Rahi JS, Cumberland PM, Peckham CS Visual function in working age adults: early life influences and associations with health and social outcomes Ophthalmology 2009 19560208
Lola Solebo Solebo AL, Russell-Eggitt I, Nischal KK, Moore AT, Cumberland P, Rahi J, and British Isles Congenital Cataract Interest Group (BCCIG) Cataract surgery and primary intraocular lens implantation in children 2 years old in the United Kingdom and Ireland: findings of national surveys Br J Ophthalmol 2009 19854739
Phillippa Cumberland Buck D, Powell C, Cumberland P, Taylor R, Sloper J, Tiffin P, Davis H, Rahi J, Clarke M Presenting features and early management of childhood Intermittent Exotropia in the UK: inception cohort study British Journal of Ophthalmology 2009 19605936
Phillippa Cumberland Rahi JS, Peckham CS, Cumberland PM Visual impairment due to undiagnosed refractive error in working age adults in Britain British Journal of Ophthalmology 2008 18723742

Selected Publication by other members of the UVRG

CREAM Consortium [V Verhoeven,  P Hysi, R Wojciechowski, Q Fan,  J Guggenheim, R Höhn, S MacGregor,  A Hewitt, A Nag, CYCheng, E Yonova‐Doing,  X Zhou, M Ikram, G Buitendijk, G McMahon,  J Kemp, B St.Pourcain, C Simpson, K‐M Mäkelä,  T Lehtimäki, M Kähönen, A Paterson, S. Hosseini, H Wong, L Xu, J Jonas, O Pärssinen,  J Wedenoja, S Yip, D Ho, C Pang, L Chen, K Burdon,  J Craig, B Klein, R Klein, Toomas Haller,  A Metspalu, C‐C Khor, E‐S Tai, T Aung,  R Li, J Liao Y Zheng, R Ong, A Döring, DCCT/EDIC Research Group, D Evans, N Timpson, A Verkerk, T Meitinger, O Raitakari, F Hawthorne, T Spector,  L Karssen, M Pirastu, F Murgia, W Ang, WTCCC2, A Mishra, G Montgomery, C Pennell , P Cumberland, I Cotlarciuc, P Mitchell, J Wang  M Schache, S Janmahasathian, R Igo, J Lass,  E Chew, S Iyengar, T Gorgels, I Rudan,  C Hayward, A Wright, O Polasek, Z Vatavuk,  J Wilson, B Fleck, T Zeller, A Mirshahi,  C Müller, A Uitterlinden, F Rivadeneira,  J Vingerling, A Hofman, B Oostra, N Amin, A Bergen, Y‐Y Teo, J Rahi, V Vitart, C Williams,  P Baird, TY Wong, K Oexle, N Pfeiffer Stambolian, C Klaver, C Hammond] Genome‐wide meta‐analyses of  multi‐ethnic cohorts identify  multiple new susceptibility loci for refractive error and myopia Nature Genetics 2013 23396134
Solebo AL and Rahi JS Epidemiology, aetiology and management of visual impairment in children
Arch Dis Child

In press
Behesti, H., Papaioannou, V. E. and Sowden, J. C. Loss of Tbx2 delays optic vesicle invagination leading to small optic cups

Developmental Biology
Coccia, M., Brooks, S. P., Webb, T. R., Christodoulou, K., Wozniak, I. O., Murday, V., Balicki, M., Yee, H. A., Wangensteen, T., Riise, R. et al.

X-linked cataract and Nance-Horan syndrome are allelic disorders Human Molecular Genetics
Gore, D. M., Thyagarajan, S., Liasis, A. and Nischal, K. K.

Functioning avascular retinae-a report of two siblings
Liasis, A., Hildebrand, D., Clark, C., Katz, X., Gunny, R., Stieltjes, B. and Taylor, D.
Sensory function in severe semilobar holoprosencephaly
Park, S., Jamshidi, Y., Vaideanu, D., Bitner-Glindzicz, M., Fraser, S. and Sowden, J. C.
Genetic Risk for Primary Open-Angle Glaucoma Determined by LMX1B Haplotypes Investigative Ophthalmology & Visual Science
Mataftsi, A., Sowden, J. C. and Nischal, K. K.

Atypical Peters Plus Syndrome with New Associations'
Journal of Aapos
Lakowski, J., Baron, M., Bainbridge, J., Barber, A. C., Pearson, R. A., Ali, R. R. and Sowden, J. C.

Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cells Human Molecular Genetics
Harding, S. A., Nischal, K. K., Upponi-Patil, A. and Fowler, D. J.
Indications and Outcomes of Deep Anterior Lamellar Keratoplasty in Children
Gualdoni, S., Baron, M., Lakowski, J., Decembrini, S., Smith, A. J., Pearson, R. A., Ali, R. R. and Sowden, J. C.

Adult Ciliary Epithelial Cells, Previously Identified as Retinal Stem Cells with Potential for Retinal Repair Fail to Differentiate into New Rod Photoreceptors Stem Cels
Decembrini, S., Cananzi, M., Gualdoni, S., Battersby, A., Allen, N., Pearson, R. A., Ali, R. R., De Coppi, P. and Sowden, J. C.

Comparative Analysis of the Retinal Potential of Embryonic Stem Cells and Amniotic Fluid-Derived Stem Cells Stem Cells and Development
Hamblion, E. L., Moore, A. T. and Rahi, J. S.

The Health-Related Quality of Life of Children with Hereditary Retinal Disorders and the Psychosocial Impact on Their Families Investigative Ophthalmology & Visual Science
Henderson, R. H., Mackay, D. S., Li, Z., Moradi, P., Sergouniotis, P., Russell-Eggitt, I., Thompson, D. A., Robson, A. G., Holder, G. E., Webster, A. R. et al.
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1
British Journal of Ophthalmology

Lakowski, J., Han, Y. T., Pearson, R. A., Gonzalez-Cordero, A., West, E. L., Gualdoni, S., Barber, A. C., Hubank, M., Ali, R. R. and Sowden, J. C.
Effective Transplantation of Photoreceptor Precursor Cells Selected Via Cell Surface Antigen Expression Stem Cells
Shah, S. P., Botting, B., Taylor, A., Abou-Rayyah, Y., Rahi, J. and Gilbert, C. E.
Congenital eye anomaly surveillance in England and Wales. How effective is the national system?



Shah, S. P., Taylor, A. E., Sowden, J. C., Ragge, N. K., Russell-Eggitt, I., Rahi, J. S., Gilbert, C. E. and SEA-UK, S. E. A. 'Anophthalmos, Microphthalmos, and Typical Coloboma in the United Kingdom: A Prospective Study of Incidence and Risk' Investigative Ophthalmology & Visual Science 2011b
Glamuzina, E., Brown, R., Hogarth, K., Saunders, D., Russell-Eggitt, I., Pitt, M., de Sousa, C., Rahman, S., Brown, G. and Grunewald, S Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2 Journal of Inherited Metabolic Disease 2012
Hamblion, E. L., Moore, A. T., Rahi, J. S. and Hereditary, B. C. O. Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK British Journal of Ophthalmology 2012

Park, S., Jamshidi, Y., Vaideanu, D., Fraser, S. and Sowden, J. C.

'Common TGF beta 2, BMP4, and FOXC1 variants are not associated with primary open-angle Molecular Vision 2012
Shah, S. P., Taylor, A. E., Sowden, J. C., Ragge, N., Russell-Eggitt, I., Rahi, J. S., Gilbert, C. E. and Special, S. E. A. 'Anophthalmos, Microphthalmos, and Coloboma in the United Kingdom: Clinical Features, Results of Investigations, and Early Management' Ophthalmology 2012

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