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Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

Jamie M. Ellingford, Panagiotis I. Sergouniotis, Rachel Lennon, Sanjeev S. Bhaskar, Simon G. Williams, Kate Hillman, James O’Sullivan, Georgina Hall, Simon Ramsden, I. Christopher Lloyd,

The Lancet · 2015 · 31 citations · 3 references

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3

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

James O’Sullivan, Brendan G Mullaney, Sanjeev S. Bhaskar et al. · Journal of Medical Genetics · 2012 · 156 citations · Full text

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Late referral for end-stage renal disease: a region-wide survey in the south west of England

Paul Roderick · Nephrology Dialysis Transplantation · 2002 · 150 citations

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Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

Edwin M. Stone · Archives of Ophthalmology · 2011 · 70 citations · Full text

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