Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
Gillespie, Rachel L., PhD, Urquhart, Jill, PhD, Anderson, Beverley, MSc, Williams, Simon, PhD, Waller, Sarah, PhD, Ashworth, Jane, FRCOphth, Biswas, Susmito, FRCOphth, Jones, Simon, MRCPCH, Stewart, Fiona, FRCPCH, Lloyd, I. Christopher, FRCOphth, Clayton-Smith, Jill, MD, FRCP, Black, Graeme C.M., DPhil, FRCOphth
Published in Ophthalmology (Rochester, Minn.) (2016)
Published in Ophthalmology (Rochester, Minn.) (2016)
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Journal Article
Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing
Gillespie, Rachel L., MSc, O’Sullivan, James, BSc, Ashworth, Jane, FRCOphth, Bhaskar, Sanjeev, MSc, Williams, Simon, PhD, Biswas, Susmito, FRCOphth, Kehdi, Elias, FRANZCO, Ramsden, Simon C., FRCPath, Clayton-Smith, Jill, FRCP, Black, Graeme C., DPhil, FRCOphth, Lloyd, I. Christopher, FRCOphth
Published in Ophthalmology (Rochester, Minn.) (01.11.2014)
Published in Ophthalmology (Rochester, Minn.) (01.11.2014)
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Journal Article
Molecular findings from 537 individuals with inherited retinal disease
Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Bishop, Paul N, Ramsden, Simon C, Black, Graeme C M
Published in Journal of medical genetics (01.11.2016)
Published in Journal of medical genetics (01.11.2016)
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Journal Article
Genetic testing for inherited ocular disease: delivering on the promise at last?
Gillespie, Rachel L, Hall, Georgina, Black, Graeme C
Published in Clinical & experimental ophthalmology (01.01.2014)
Published in Clinical & experimental ophthalmology (01.01.2014)
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Journal Article
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy
Gillespie, Rachel L, Urquhart, Jill, Lovell, Simon C, Biswas, Susmito, Parry, Neil R A, Schorderet, Daniel F, Lloyd, I Chris, Clayton-Smith, Jill, Black, Graeme C
Published in Investigative ophthalmology & visual science (08.01.2015)
Published in Investigative ophthalmology & visual science (08.01.2015)
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Journal Article
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
Sergouniotis, Panagiotis I, Barton, Stephanie J, Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M, Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L, Bhaskar, Sanjeev S, Ramsden, Simon C, Black, Graeme C, Lovell, Simon C
Published in Orphanet journal of rare diseases (14.09.2016)
Published in Orphanet journal of rare diseases (14.09.2016)
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Journal Article
A new diagnostic approach to children with cataract caused by metabolic disease
Gillespie, Rachel L, Ashworth, Jane, Biswas, Susmito, Ramsden, Simon C, Clayton-Smith, Jill, Lloyd, I. Chris, Black, Graeme C
Published in Journal of AAPOS (01.08.2015)
Published in Journal of AAPOS (01.08.2015)
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Journal Article
Delivering the promise of genomics for ophthalmology: congenital cataract as an exemplar
Gillespie, Rachel L, Ramsden, Simon C, Clayton-Smith, Jill, Ashworth, Jane L, Black, Graeme C, Lloyd, Chris
Published in Journal of AAPOS (01.08.2014)
Published in Journal of AAPOS (01.08.2014)
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Journal Article