title: Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: Jamie M
authors.initials: JM
authors.lastname: Ellingford
authors.affiliation: Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: Panagiotis I
authors.initials: PI
authors.lastname: Sergouniotis
authors.affiliation: Department of Paediatric Nephrology, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: Rachel
authors.initials: R
authors.lastname: Lennon
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Bhaskar
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: Simon G
authors.initials: SG
authors.lastname: Williams
authors.affiliation: Department of Renal Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: Kate A
authors.initials: KA
authors.lastname: Hillman
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: James
authors.initials: J
authors.lastname: O'Sullivan
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: Georgina
authors.initials: G
authors.lastname: Hall
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: Simon C
authors.initials: SC
authors.lastname: Ramsden
authors.affiliation: Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: I Christopher
authors.initials: IC
authors.lastname: Lloyd
authors.affiliation: Department of Paediatric Nephrology, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.
authors.forename: Adrian S
authors.initials: AS
authors.lastname: Woolf
authors.affiliation: Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK. Electronic address: graeme.black@manchester.ac.uk.
authors.forename: Graeme C M
authors.initials: GC
authors.lastname: Black
mesh_terms: D000072661:Ciliopathies; D042241:Early Diagnosis; D059472:Exome; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000235:genetics; D057130:Leber Congenital Amaurosis / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods