Gavin Arno

Gavin Arno

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Gavin Arno

Gavin Arno

Publications by authors named "Gavin Arno"

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GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.

Am J Ophthalmol 2020 Feb 5;210:59-70. Epub 2019 Nov 5.

Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; UK Inherited Retinal Dystrophy Consortium, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.10.019DOI Listing
February 2020

The Spectrum of Mutations and Genotype-Phenotype Correlations in the Eye.

Genes (Basel) 2019 12 17;10(12). Epub 2019 Dec 17.

Institute of Ophthalmology, UCL, London EC1V 9EL, UK.

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http://dx.doi.org/10.3390/genes10121050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947179PMC
December 2019

Macular maldevelopment in -mediated retinal dysfunction.

Ophthalmic Genet 2019 12 3;40(6):564-569. Epub 2020 Jan 3.

Moorfields Eye Hospital, London, UK.

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http://dx.doi.org/10.1080/13816810.2019.1706749DOI Listing
December 2019

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.

Am J Ophthalmol 2019 Nov 8;207:87-98. Epub 2019 May 8.

UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.05.001DOI Listing
November 2019

Isolated rod dysfunction associated with a novel genotype of .

Am J Ophthalmol Case Rep 2019 Jun 19;14:83-86. Epub 2019 Mar 19.

UCL Institute of Ophthalmology, University College London, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S24519936183032
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http://dx.doi.org/10.1016/j.ajoc.2019.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438912PMC
June 2019

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.

Eur J Hum Genet 2018 11 8;26(11):1713-1718. Epub 2018 Aug 8.

National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, EC1V 9EL, UK.

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http://dx.doi.org/10.1038/s41431-018-0227-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189180PMC
November 2018

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.

Retina 2018 Mar;38(3):620-628

University College London Institute of Ophthalmology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1097/IAE.0000000000001570DOI Listing
March 2018

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

Ophthalmic Genet 2017 Sep-Oct;38(5):465-466. Epub 2016 Nov 28.

a University College London Institute of Ophthalmology , University College London , London , UK.

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http://dx.doi.org/10.1080/13816810.2016.1227453DOI Listing
December 2017

Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas.

Ophthalmic Genet 2017 May-Jun;38(3):281-283. Epub 2016 Jun 7.

a Department of Ophthalmology , University of California, San Francisco , San Francisco , California , USA.

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http://dx.doi.org/10.1080/13816810.2016.1188122DOI Listing
November 2017

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Ophthalmology 2017 07 31;124(7):1004-1013. Epub 2017 Mar 31.

Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Institute of Ophthalmology, London, United Kingdom; Ophthalmology Department, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1016/j.ophtha.2017.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503697PMC
July 2017

Single-base substitutions in the CHM promoter as a cause of choroideremia.

Hum Mutat 2017 06 24;38(6):704-715. Epub 2017 Mar 24.

Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada.

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http://dx.doi.org/10.1002/humu.23212DOI Listing
June 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

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.

JAMA Ophthalmol 2017 Feb;135(2):137-144

Moorfields Eye Hospital, London, England2University College London Institute of Ophthalmology, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.5213DOI Listing
February 2017

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

Br J Ophthalmol 2016 Nov 28;100(11):1521-1524. Epub 2016 Jan 28.

University College London Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2015-308067DOI Listing
November 2016

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Invest Ophthalmol Vis Sci 2016 Nov;57(14):6180-6187

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 13Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-20148DOI Listing
November 2016

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

JAMA Ophthalmol 2016 Sep;134(9):992-1000

UCL (University College of London) Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.2089DOI Listing
September 2016

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

JAMA Ophthalmol 2016 Sep;134(9):1049-53

Institute of Ophthalmology, University College London, London, England2Moorfields Eye Hospital, London, England7Department of Ophthalmology, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.5833DOI Listing
September 2016

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

JAMA Ophthalmol 2016 Aug;134(8):924-7

University College London Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.1543DOI Listing
August 2016

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

JAMA Ophthalmol 2016 07;134(7):753-62

University College London Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England6Koret Vision Center, Department of Ophthalmology, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.1073DOI Listing
July 2016

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.

Ophthalmology 2016 Mar 7;123(3):668-71.e2. Epub 2015 Nov 7.

UCL Institute of Ophthalmology, University College London, London, UK; Moorfields Eye Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2015.09.045DOI Listing
March 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

Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.

Acta Ophthalmol 2015 Aug 28;93(5):e392-3. Epub 2014 Dec 28.

Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1111/aos.12592DOI Listing
August 2015

Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.

Am J Med Genet A 2015 Jul 5;167(7):1601-4. Epub 2015 May 5.

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

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http://dx.doi.org/10.1002/ajmg.a.37004DOI Listing
July 2015

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

Circ Cardiovasc Genet 2015 Jun 10;8(3):457-64. Epub 2015 Mar 10.

Departments of Internal Medicine (E.S.R., D.G., S.P., T.A.B., K.F., D.M.M.), Cardiothoracic and Vascular Surgery (A.E., H.S.), University of Texas Health Science Center at Houston; Department of Medicine, Stanford University Medical Center, CA (D.L.); Connective Tissue Gene Tests, Allentown, PA (J.H.); Department of Cardiac and Vascular Sciences, St. George's, University of London, London, United Kingdom (A.C., G.A.); AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France (C.B., G.J.), Université Paris 7, Paris, France (C.B., G.J.), AP-HP, Hôpital Bichat, Laboratoire de Génétique moléculaire, Boulogne, France (C.B.), and INSERM, U1148, Paris, France (C.B., G.J.); AP-HP, Hôpital Bichat, Service de Cardiologie, Paris, France (G.J.); Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO (A.B.); Genomic Medicine Institute, Cleveland Clinic, OH (R.M.); Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan (T.M., H.M.); Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.P.); Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, TX (J.C., S.L.); and Texas Heart Institute and Baylor St. Luke's Medical Center, Houston (J.C., S.L.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601641PMC
June 2015

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

Invest Ophthalmol Vis Sci 2015 Apr;56(4):2358-65

UCL Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 4Ophthalmology Department, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom 5Department of Ophthalmology, University of Cali.

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http://dx.doi.org/10.1167/iovs.15-16520DOI Listing
April 2015

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Am J Hum Genet 2015 Apr 26;96(4):666-74. Epub 2015 Mar 26.

Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France; Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385181PMC
April 2015

Clinical and molecular characterization of enhanced S-cone syndrome in children.

JAMA Ophthalmol 2014 Nov;132(11):1341-9

Inherited Eye Diseases, University College London Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.2343DOI Listing
November 2014

A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome.

J Pediatr Genet 2014 Sep;3(3):157-62

Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.

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http://dx.doi.org/10.3233/PGE-14095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021001PMC
September 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

Expansion of ocular phenotypic features associated with mutations in ADAMTS18.

JAMA Ophthalmol 2014 Aug;132(8):996-1001

University College London Institute of Ophthalmology, London, England3Professorial Unit, Moorfields Eye Hospital, London, England6Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, England.

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http://www.uk10k.org/assets/24874986.pdf
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http://archopht.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaophthalmol.2014.940DOI Listing
August 2014

Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.

Ophthalmic Genet 2013 Mar-Jun;34(1-2):78-82. Epub 2012 Aug 7.

Cardiac and Vascular Sciences, St George's University of London, London, UK.

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http://dx.doi.org/10.3109/13816810.2012.710707DOI Listing
August 2013

Focus on molecules: ADAMTSL4.

Exp Eye Res 2012 Nov 13;104:95-6. Epub 2011 Dec 13.

UCL Institute of Ophthalmology, Bath Street, London, EC1V9EL, UK.

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http://dx.doi.org/10.1016/j.exer.2011.12.007DOI Listing
November 2012

Letter to the editor.

Int J Angiol 2010 ;19(2):e94

Sonalee Laboratory, Cardiac and Vascular Sciences, St George's, University of London, London, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005407PMC
http://dx.doi.org/10.1055/s-0031-1278369DOI Listing
August 2012

A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.

Invest Ophthalmol Vis Sci 2012 Jul 24;53(8):4889-96. Epub 2012 Jul 24.

Vitreoretinal Department, Moorfields Eye Hospital, City Road, London EC1V2PD, UK.

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http://dx.doi.org/10.1167/iovs.12-9874DOI Listing
July 2012

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

Hum Mutat 2010 Aug;31(8):E1622-31

Sonalee Laboratory, Cardiac & Vascular Sciences, St George's University of London, SW17 0RE, UK.

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http://dx.doi.org/10.1002/humu.21305DOI Listing
August 2010

Differential pathways govern CD4+ CD28- T cell proinflammatory and effector responses in patients with coronary artery disease.

J Immunol 2008 Oct;181(8):5233-41

Division of Cardiac and Vascular Sciences, St. George's University of London, London, United Kingdom.

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http://dx.doi.org/10.4049/jimmunol.181.8.5233DOI Listing
October 2008

Quantification of mitochondrial sublimons in human fibrillating atria.

Clin Sci (Lond) 2004 Jun;106(6):653-9

Department of Cardiovascular Medicine, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK.

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http://dx.doi.org/10.1042/CS20030252DOI Listing
June 2004

Placental infection with Chlamydia pneumoniae and intrauterine growth restriction.

Cardiovasc Res 2003 Oct;60(1):165-9

Department of Cardiological Sciences, St. George's Hospital Medical School, Cranmer Terrace, London, SW17 0RE, UK.

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http://dx.doi.org/10.1016/s0008-6363(03)00321-3DOI Listing
October 2003