Publications by authors named "Graeme C M Black"

87Publications

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2.

Invest Ophthalmol Vis Sci 2011 Oct 4;52(11):7859-65. Epub 2011 Oct 4.

School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1167/iovs.10-6581DOI Listing
October 2011

Childhood-onset autosomal recessive bestrophinopathy.

Arch Ophthalmol 2011 Aug;129(8):1088-93

Molecular Genetics, Institute of Ophthalmology, University College London, Moorfields Eye Hospital, England.

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http://dx.doi.org/10.1001/archophthalmol.2011.197DOI Listing
August 2011

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

Invest Ophthalmol Vis Sci 2011 Jun 1;52(6):3730-6. Epub 2011 Jun 1.

School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1167/iovs.10-6707DOI Listing
June 2011

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.

Mol Vis 2010 Dec 31;16:2916-22. Epub 2010 Dec 31.

School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013070PMC
December 2010

Identification of genomic loci contributing to agenesis of the corpus callosum.

Am J Med Genet A 2010 Sep;152A(9):2145-59

University of Manchester, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, Hathersage Road, Manchester, M13 9WL, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.33558DOI Listing
September 2010

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

Am J Hum Genet 2009 Nov 22;85(5):581-92. Epub 2009 Oct 22.

Genetic Medicine, The University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1016/j.ajhg.2009.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775838PMC
November 2009

Breast cancer susceptibility variants alter risks in familial disease.

J Med Genet 2010 Feb 16;47(2):126-31. Epub 2009 Jul 16.

Department of Medical Genetics, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester M13 0JH, UK.

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http://dx.doi.org/10.1136/jmg.2009.067256DOI Listing
February 2010

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

Eur J Med Genet 2009 Nov-Dec;52(6):454-7. Epub 2009 Jul 1.

Genetic Medicine, University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospital, NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900071
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http://dx.doi.org/10.1016/j.ejmg.2009.06.003DOI Listing
February 2010

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.

Am J Med Genet A 2008 Dec;146A(23):3034-7

Academic Department of Medical Genetics, University of Manchester, and Regional Genetics Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.32564DOI Listing
December 2008

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

Hum Mutat 2008 Jan;29(1):83-90

Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://doi.wiley.com/10.1002/humu.20603
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http://dx.doi.org/10.1002/humu.20603DOI Listing
January 2008

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

Am J Hum Genet 2007 Aug 13;81(2):292-303. Epub 2007 Jun 13.

Academic Unit of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, and Centre for Molecular Medicine, The University of Manchester, M13 0JH, UK.

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http://dx.doi.org/10.1086/519999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950798PMC
August 2007

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Hum Mol Genet 2007 Jul 21;16(14):1773-82. Epub 2007 May 21.

Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1093/hmg/ddm125DOI Listing
July 2007

A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

Eur J Med Genet 2007 May-Jun;50(3):216-23. Epub 2007 Jan 27.

Academic Department of Medical Genetics and Regional Genetic Services, St Mary's Hospital, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1016/j.ejmg.2007.01.003DOI Listing
July 2007

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.

Hum Mutat 2006 Jun;27(6):553-7

Centre de Recherche Thérapeutique en Ophtalmologie (CERTO), Faculté Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.20331DOI Listing
June 2006

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Am J Ophthalmol 2006 Feb;141(2):418-20

Moorfields Eye Hospital, and Institute of Ophthalmology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.ajo.2005.09.018DOI Listing
February 2006

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.

Am J Med Genet A 2005 Oct;138A(3):278-81

Department of Clinical Genetics, Royal Liverpool Children's Hospital, Liverpool, UK.

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http://doi.wiley.com/10.1002/ajmg.a.30944
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http://dx.doi.org/10.1002/ajmg.a.30944DOI Listing
October 2005

Inherited eye disease: cause and late effect.

Trends Mol Med 2005 Oct 8;11(10):449-55. Epub 2005 Sep 8.

Academic Unit of Eye and Vision Science, Manchester Royal Eye Hospital, School of Medicine, University of Manchester, Oxford Road, Manchester M13 9WH, UK.

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http://dx.doi.org/10.1016/j.molmed.2005.08.001DOI Listing
October 2005

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Nat Genet 2004 Apr 7;36(4):411-6. Epub 2004 Mar 7.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ng1321DOI Listing
April 2004

Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development.

Hum Mol Genet 2003 Dec 21;12(24):3269-76. Epub 2003 Oct 21.

Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester, UK.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddg356DOI Listing
December 2003

Vitreous phenotype: genotype correlation in Stickler syndrome.

Graefes Arch Clin Exp Ophthalmol 2002 Jan;240(1):63-5; author reply 66

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http://dx.doi.org/10.1007/s00417-001-0380-8DOI Listing
January 2002