Publications by authors named "Graeme Black"

100Publications

Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review.

BMC Cardiovasc Disord 2020 Nov 19;20(1):488. Epub 2020 Nov 19.

Division of Cardiovascular Sciences, University of Manchester, AV Hill Building, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1186/s12872-020-01781-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678306PMC
November 2020

Small molecules restore the function of mutant CLC5 associated with Dent disease.

J Cell Mol Med 2020 Nov 16. Epub 2020 Nov 16.

Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1111/jcmm.16091DOI Listing
November 2020

Clinical and genetic findings in CTNNA1-associated macular pattern dystrophy.

Ophthalmology 2020 Oct 30. Epub 2020 Oct 30.

UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK; Moorfields Eye Hospital, 162 City Rd, London, EC1V 2PD, UK; Section of Ophthalmology, King's College London, ST Thomas' Hospital Campus, Westminster Bridge Road, London SE1 7EH, UK; Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge, CB2 3EG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2020.10.032DOI Listing
October 2020

Hearing Loss in Enlarged Vestibular Aqueduct: A Prognostic Factor Systematic Review of the Literature.

Otol Neurotol 2020 Sep 22. Epub 2020 Sep 22.

*Department of Paediatric Ear, Nose and Throat Surgery †Department of Paediatric Anesthesia ‡University College London Ear Institute and University College London Hospitals NHS Foundation Trust, London §Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital ||Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester ¶Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1097/MAO.0000000000002843DOI Listing
September 2020

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.

J Neuroophthalmol 2020 Dec;40(4):558-565

Department of Neurology (CBC, OM, TK), Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE) (CBC, TK), Munich, Germany; Department of Ophthalmology (BL, CP, FL, GR), University Hospital of the Ludwig-Maximilians-University Munich, Germany; New York Eye and Ear Infirmary of Mount Sinai (RB), New York, New York; Ophthalmology Department (SM), Waikato Hospital, Hamilton, New Zealand; Scheie Eye Institute (MAT), University of Pennsylvania, Philadelphia, Pennsylvania; Institut Català de Retina (LC), Barcelona, Spain; Augenklinik (CF), Universitätsklinikum Giessen, Giessen, Germany; University Hospital Southampton (CAH), Southampton, United Kingdom; McGovern Medical School (JAL), UTHealth, Houston, Texas; Department of Ophthalmology (GLT, KL, SJL), University Hospital and University of Zurich, Zurich, Switzerland; Neuro-ophthalmology Associates (GA), Ankara, Turkey; Manchester Centre for Genomic Medicine (GCMB), Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, United Kingdom; Division of Evolution and Genomic Sciences (GCMB), Neuroscience and Mental Health Domain, School of Health Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom; Ophthalmology Unit (CD), Hospital de Poniente, El Ejido, Almería, Spain; Save Sight Institute (CLF), University of Sydney, Sydney, Australia; Department of Pediatric Traumatology and Emergency Medicine (JJ), Wroclaw Medical University, Poland; Poland SPEKTRUM Ophthalmology Clinic (JJ), Wroclaw, Poland; University Hospital Ramon y Cajal (FJM-N), IRYCIS, Madrid, Spain; Emory University School of Medicine (NJN), Atlanta Georgia; Nuffield Dept Obstetrics and Gynaecology (JP), University of Oxford, The Women's Centre, Oxford, United Kingdom; Department of Ophthalmology (ES), East Kent Hospitals University Foundation Trust, United Kingdom; Neuro-Ophthalmology Division (PS), University of Colorado School of Medicine, Aurora, Colorado; Department of Neuroinflammation (ATT), Queen Square MS Centre, UCL Institute of Neurology, University College London, London, United Kingdom; Hospital Sant Joan de Déu Barcelona (MV), Barcelona, Spain; Eye Department (ALV), Greenlane Clinical Centre, Auckland, New Zealand; School of Optometry and Vision Sciences (MV), Cardiff University, Cardiff, United Kingdom; Department of Developmental Neurology (MZ), Poznan University of Medical Sciences, Poznan, Poland; Manchester Centre for Clinical Neuroscience (AZ), Salford Royal NHS Foundation Trust, Salford, United Kingdom; Neuro-ophthalmology Unit (MS, XL, GM) Santhera Pharmaceuticals, Pratteln, Switzerland; and Munich Cluster for Systems Neurology (SyNergy) (TK), Munich, Germany.

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http://dx.doi.org/10.1097/WNO.0000000000001023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7657145PMC
December 2020

Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders.

Clin Genet 2020 Aug 3. Epub 2020 Aug 3.

Medical Genetics Unit, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

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http://dx.doi.org/10.1111/cge.13808DOI Listing
August 2020

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.

Eur J Hum Genet 2020 Sep 20;28(9):1274-1282. Epub 2020 Apr 20.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1038/s41431-020-0623-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608274PMC
September 2020

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.

Otol Neurotol 2020 Apr;41(4):431-437

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1097/MAO.0000000000002588DOI Listing
April 2020

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Eur J Hum Genet 2020 May 13;28(5):576-586. Epub 2019 Dec 13.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/s41431-019-0548-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171123PMC
May 2020

Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy.

Case Rep Ophthalmol 2019 Sep-Dec;10(3):374-378. Epub 2019 Nov 1.

Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1159/000503853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873073PMC
November 2019

Clinical and genetic variability in children with partial albinism.

Sci Rep 2019 11 12;9(1):16576. Epub 2019 Nov 12.

Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/s41598-019-51768-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851142PMC
November 2019

Cochlear implantation in the era of genomic medicine.

Cochlear Implants Int 2020 03 24;21(2):117-120. Epub 2019 Oct 24.

Domain of Evolution, Systems and Genomics, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PL, UK.

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http://dx.doi.org/10.1080/14670100.2019.1678895DOI Listing
March 2020

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

Clin Dysmorphol 2019 Oct;28(4):184-189

Department of Paediatric Ophthalmology, Manchester Royal Eye Hospital.

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http://dx.doi.org/10.1097/MCD.0000000000000287DOI Listing
October 2019

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Ophthalmology 2019 10 21;126(10):1410-1421. Epub 2019 Mar 21.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, St. Mary's Hospital, Manchester, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183317
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http://dx.doi.org/10.1016/j.ophtha.2019.03.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856713PMC
October 2019

Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies.

Int J Epidemiol 2019 04;48(2):455-463

Division of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.

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https://academic.oup.com/ije/advance-article/doi/10.1093/ije
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http://dx.doi.org/10.1093/ije/dyz009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469300PMC
April 2019

The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies.

J Community Genet 2019 Jul 24;10(3):425-434. Epub 2019 Jan 24.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1007/s12687-019-00406-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591333PMC
July 2019

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Am J Hum Genet 2018 10;103(4):568-578

Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174361PMC
October 2018

Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG).

BMJ Case Rep 2018 Feb 5;2018. Epub 2018 Feb 5.

Department of Ophthalmology, Royal Bolton Hospital, Bolton, UK.

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http://dx.doi.org/10.1136/bcr-2016-217556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836657PMC
February 2018

C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation.

Sci Rep 2018 01 26;8(1):1643. Epub 2018 Jan 26.

Division of Evolution and Genomic Science, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Oxford Road, Manchester, M13 9PT, UK.

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http://dx.doi.org/10.1038/s41598-017-18395-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786067PMC
January 2018

Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.

Am J Ophthalmol 2017 Jul 10;179:110-117. Epub 2017 May 10.

Doheny Image Reading Center, Doheny Eye Institute, Los Angeles, California; Department of Ophthalmology, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2017.05.002DOI Listing
July 2017

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Clin Exp Ophthalmol 2017 12 13;45(9):901-910. Epub 2017 Jun 13.

Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1111/ceo.12983DOI Listing
December 2017

Validation of copy number variation analysis for next-generation sequencing diagnostics.

Eur J Hum Genet 2017 06 5;25(6):719-724. Epub 2017 Apr 5.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2017.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427176PMC
June 2017

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Ophthalmology 2017 07 22;124(7):985-991. Epub 2017 Mar 22.

Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Health Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2017.02.005DOI Listing
July 2017

Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.

Genet Med 2017 09 16;19(9):1032-1039. Epub 2017 Mar 16.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/gim.2017.9DOI Listing
September 2017

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA Ophthalmol 2017 04;135(4):339-347

Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.0046DOI Listing
April 2017

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Invest Ophthalmol Vis Sci 2017 01;58(1):594-603

Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, The University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, United Kingdom 3Manchester Centre for Genomic Medicine, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.16-21026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841568PMC
January 2017

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.

JAMA Ophthalmol 2017 Feb;135(2):167-169

Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, United Kingdom2Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.4985DOI Listing
February 2017

Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma.

Acta Ophthalmol 2017 05 28;95(3):e249-e250. Epub 2016 Sep 28.

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1111/aos.13246DOI Listing
May 2017

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.

Clin Exp Ophthalmol 2017 04 21;45(3):297-299. Epub 2016 Sep 21.

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1111/ceo.12825DOI Listing
April 2017

Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome.

JAMA Ophthalmol 2016 08 11;134(8):e161299. Epub 2016 Aug 11.

Centre for Ophthalmology and Vision Sciences, Institute of Human Development, University of Manchester, Manchester, England3Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.1299DOI Listing
August 2016

Molecular findings from 537 individuals with inherited retinal disease.

J Med Genet 2016 Nov 11;53(11):761-767. Epub 2016 May 11.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-103837
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http://dx.doi.org/10.1136/jmedgenet-2016-103837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106339PMC
November 2016

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Invest Ophthalmol Vis Sci 2016 Mar;57(3):1053-62

University College London Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 12Ophthalmology, University of California, San Francisco, California, United States.

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http://dx.doi.org/10.1167/iovs.15-17976DOI Listing
March 2016

Atypical presentation of CRB1 retinopathy.

Acta Ophthalmol 2016 Sep 23;94(6):e513-4. Epub 2016 Feb 23.

Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1111/aos.12997DOI Listing
September 2016

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology 2016 May 9;123(5):1143-50. Epub 2016 Feb 9.

Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845717PMC
May 2016

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

Orphanet J Rare Dis 2015 Nov 11;10:145. Epub 2015 Nov 11.

Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1186/s13023-015-0360-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642625PMC
November 2015

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Hum Mol Genet 2015 Dec 22;24(23):6565-79. Epub 2015 Sep 22.

Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddv345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634368PMC
December 2015

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.

Ophthalmology 2016 Jan 30;123(1):217-20. Epub 2015 Jul 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, UK; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2015.06.035DOI Listing
January 2016

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Hum Mol Genet 2015 Oct 30;24(20):5789-804. Epub 2015 Jul 30.

Eye Genetics Research Group, Children's Medical Research Institute, The University of Sydney; The Children's Hospital at Westmead; and Save Sight Institute, Sydney, NSW, Australia,

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http://dx.doi.org/10.1093/hmg/ddv298DOI Listing
October 2015

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.

Proc Natl Acad Sci U S A 2015 Jun 8;112(25):E3236-45. Epub 2015 Jun 8.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom; European Retinal Dystrophy Consortium; United Kingdom Inherited Retinal Disease Consortium, Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom

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http://dx.doi.org/10.1073/pnas.1401464112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485104PMC
June 2015

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

Lancet 2015 May;385(9980):1916

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(15)60496-2DOI Listing
May 2015

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

J Hum Genet 2015 Apr 15;60(4):199-202. Epub 2015 Jan 15.

1] Institute of Human Development, University of Manchester, Manchester, UK [2] Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/jhg.2014.122DOI Listing
April 2015

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

Invest Ophthalmol Vis Sci 2015 Jan 8;56(2):883-91. Epub 2015 Jan 8.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, United Kingdom Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.

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http://iovs.arvojournals.org/Article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.14-15861DOI Listing
January 2015

Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.

J Community Genet 2015 Apr 9;6(2):157-65. Epub 2015 Jan 9.

Manchester Centre for Health Economics, Institute of Population Health, Faculty of Medical and Human Sciences, MAHSC, The University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1007/s12687-014-0210-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356672PMC
April 2015

Delivery of a clinical genomics service.

Genes (Basel) 2014 Nov 6;5(4):1001-17. Epub 2014 Nov 6.

Manchester Centre for Genomic Medicine, University of Manchester, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.3390/genes5041001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276923PMC
November 2014

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Invest Ophthalmol Vis Sci 2014 Sep 30;55(10):6934-44. Epub 2014 Sep 30.

Inherited Eye Diseases, UCL Institute of Ophthalmology, London, United Kingdom Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.14-14715DOI Listing
September 2014

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

Neurogenetics 2015 Jan 27;16(1):69-75. Epub 2014 Aug 27.

Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1007/s10048-014-0416-yDOI Listing
January 2015

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Ophthalmology 2014 Nov 19;121(11):2124-37.e1-2. Epub 2014 Aug 19.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, The University of Manchester, Central Manchester Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2014.06.006DOI Listing
November 2014

The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.

Hum Hered 2014 29;77(1-4):118-37. Epub 2014 Jul 29.

Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1159/000362599DOI Listing
March 2015

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Hum Mol Genet 2014 Oct 3;23(20):5527-35. Epub 2014 Jun 3.

Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool L69 3GA, UK

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http://dx.doi.org/10.1093/hmg/ddu253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168824PMC
October 2014

Identifying biological pathways that underlie primordial short stature using network analysis.

J Mol Endocrinol 2014 Jun 7;52(3):333-44. Epub 2014 Apr 7.

Institute of Human DevelopmentFaculty of Medical and Human Sciences, The University of Manchester, Oxford Road, Manchester M13 9WL, UKManchester Academic Health Sciences Centre (MAHSC)Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UKInstitute of Human DevelopmentFaculty of Medical and Human Sciences, The University of Manchester, Oxford Road, Manchester M13 9WL, UKManchester Academic Health Sciences Centre (MAHSC)Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.

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http://dx.doi.org/10.1530/JME-14-0029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4045235PMC
June 2014

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.

Lancet 2014 Mar 16;383(9923):1129-37. Epub 2014 Jan 16.

Molecular Medicine Section, National Heart and Lung Institute, Imperial College London, London, UK; Chronic Diseases Research Centre, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1016/S0140-6736(13)62117-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4171740PMC
March 2014

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

Invest Ophthalmol Vis Sci 2014 Feb 18;55(2):977-85. Epub 2014 Feb 18.

School of Biomedical Sciences, University of Ulster, Coleraine, Northern Ireland, United Kingdom.

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http://dx.doi.org/10.1167/iovs.13-13279DOI Listing
February 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

Clinical utility gene card for: choroideremia.

Eur J Hum Genet 2014 Apr 21;22(4). Epub 2013 Aug 21.

1] Institute of Ophthalmology, UCL, London, UK [2] Moorfields Eye Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2013.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953909PMC
April 2014

Genetic testing for inherited ocular disease: delivering on the promise at last?

Clin Exp Ophthalmol 2014 Jan-Feb;42(1):65-77. Epub 2013 Aug 21.

Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK; Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1111/ceo.12159DOI Listing
July 2014

A clinical molecular genetic service for United Kingdom families with choroideraemia.

Eur J Med Genet 2013 Aug 25;56(8):432-8. Epub 2013 Jun 25.

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, United Kingdom.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.003DOI Listing
August 2013

Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method.

Br J Ophthalmol 2013 Aug 6;97(8):1051-6. Epub 2013 Jun 6.

Manchester Centre for Health Economics, Institute of Population Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2012-303020DOI Listing
August 2013

Understanding the expectations of patients with inherited retinal dystrophies.

Br J Ophthalmol 2013 Aug 5;97(8):1057-61. Epub 2013 Jun 5.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2012-302911DOI Listing
August 2013

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Orphanet J Rare Dis 2013 May 4;8:68. Epub 2013 May 4.

Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1186/1750-1172-8-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006PMC
May 2013

Autozygosity mapping with exome sequence data.

Hum Mutat 2013 Jan 22;34(1):50-6. Epub 2012 Oct 22.

School of Medicine, University of Leeds, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.22220DOI Listing
January 2013

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Genet Med 2012 Nov 12;14(11):891-9. Epub 2012 Jul 12.

Nuffield Department of Clinical Neuroscience, Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, University of Oxford, UK.

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http://dx.doi.org/10.1038/gim.2012.73DOI Listing
November 2012

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.

Clin Endocrinol (Oxf) 2012 Sep;77(3):335-42

Developmental Biomedicine, Manchester Academic Health Sciences Centre (MAHSC), School of Biomedicine, University of Manchester, UK.

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http://doi.wiley.com/10.1111/j.1365-2265.2012.04428.x
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http://dx.doi.org/10.1111/j.1365-2265.2012.04428.xDOI Listing
September 2012

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

J Med Genet 2012 May;49(5):322-6

Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St Mary’s Hospital, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2012-100847DOI Listing
May 2012

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.

Clin Exp Ophthalmol 2012 Jul 19;40(5):476-83. Epub 2012 Jun 19.

Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology Vitreo-retinal Unit, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria.

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http://dx.doi.org/10.1111/j.1442-9071.2012.02804.xDOI Listing
July 2012

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Eur J Hum Genet 2012 May 11;20(5). Epub 2012 Jan 11.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2011.251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330226PMC
May 2012

The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.

Horm Res Paediatr 2011 29;76(6):369-78. Epub 2011 Nov 29.

Department of Endocrinology, Manchester Biomedical Centre, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1159/000334392DOI Listing
April 2012