Panagiotis I Sergouniotis

Panagiotis I Sergouniotis

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Panagiotis I Sergouniotis

Panagiotis I Sergouniotis

Publications by authors named "Panagiotis I Sergouniotis"

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Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.

Orphanet J Rare Dis 2019 Aug 15;14(1):200. Epub 2019 Aug 15.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

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http://dx.doi.org/10.1186/s13023-019-1156-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696684PMC
August 2019

Inherited Retinal Disorders: Using Evidence as a Driver for Implementation.

Ophthalmologica 2019 Jul 5:1-8. Epub 2019 Jul 5.

Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom,

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http://dx.doi.org/10.1159/000500574DOI Listing
July 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

An ontological foundation for ocular phenotypes and rare eye diseases.

Orphanet J Rare Dis 2019 01 9;14(1). Epub 2019 Jan 9.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

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http://dx.doi.org/10.1186/s13023-018-0980-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327432PMC
January 2019

Late-onset Leber hereditary optic neuropathy presenting after intraocular surgery.

Can J Ophthalmol 2018 06 6;53(3):e115-e117. Epub 2017 Nov 6.

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

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http://dx.doi.org/10.1016/j.jcjo.2017.08.016DOI Listing
June 2018

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

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

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

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

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

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

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 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

Author reply: To PMID 24480711.

Ophthalmology 2015 Apr;122(4):e22

Moorfields Eye Hospital, London, UK; University College London, Institute of Ophthalmology, Bath Street, London, UK.

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http://dx.doi.org/10.1016/j.ophtha.2014.08.041DOI Listing
April 2015

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

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

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

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Ophthalmology 2014 Jun 28;121(6):1174-84. Epub 2014 Jan 28.

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

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http://dx.doi.org/10.1016/j.ophtha.2013.11.042DOI Listing
June 2014

Clinical characteristics of early retinal disease due to CDHR1 mutation.

Mol Vis 2013 16;19:2250-9. Epub 2013 Nov 16.

UCL Institute of Ophthalmology, University College London, London, UK ; Moorfields Eye Hospital, London, UK ; Ophthalmology Department, King Abdulaziz University Hospital, Riyadh, Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834600PMC
March 2014

Vision in observers with enhanced S-cone syndrome: an excess of s-cones but connected mainly to conventional s-cone pathways.

Invest Ophthalmol Vis Sci 2014 Feb 18;55(2):963-76. Epub 2014 Feb 18.

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

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http://dx.doi.org/10.1167/iovs.13-12897DOI Listing
February 2014

The clinical effect of homozygous ABCA4 alleles in 18 patients.

Ophthalmology 2013 Nov 12;120(11):2324-31. Epub 2013 Jun 12.

UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom; National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo, Japan; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.ophtha.2013.04.016DOI Listing
November 2013

Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

Am J Ophthalmol 2013 Sep;156(3):487-501.e1

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

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http://dx.doi.org/10.1016/j.ajo.2013.05.003DOI Listing
September 2013

Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings.

Arch Ophthalmol 2012 Nov;130(11):1470-3

Department of Pediatrics and Strabismus, Moorfields Eye Hospital, 162 City Rd, London EC1V 2PD, England.

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http://dx.doi.org/10.1001/archophthalmol.2012.1567DOI Listing
November 2012

Retinal structure, function, and molecular pathologic features in gyrate atrophy.

Ophthalmology 2012 Mar 17;119(3):596-605. Epub 2011 Dec 17.

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

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http://dx.doi.org/10.1016/j.ophtha.2011.09.017DOI Listing
March 2012

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.

Br J Ophthalmol 2012 Feb 10;96(2):213-7. Epub 2011 May 10.

Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK.

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http://dx.doi.org/10.1136/bjo.2011.203638DOI Listing
February 2012

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

Ophthalmology 2011 Aug 29;118(8):1661-70. Epub 2011 Apr 29.

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

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http://dx.doi.org/10.1016/j.ophtha.2010.12.031DOI Listing
August 2011

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Invest Ophthalmol Vis Sci 2011 Mar 30;52(3):1880-6. Epub 2011 Mar 30.

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

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http://dx.doi.org/10.1167/iovs.10-6043DOI Listing
March 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