Author details

Full Name

Panagiotis I Sergouniotis

Affiliation

University of Manchester

ORCID

Career Start Year

2009

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38054408	Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.	Genet Med	2024
36165842	LASER PROPHYLAXIS IN STICKLER SYNDROME: The Manchester Protocol.	Retina	2023
37667371	Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.	Orphanet J Rare Dis	2023
37460203	A multilayered approach to the analysis of genetic data from individuals with suspected albinism.	J Med Genet	2023
37155940	Reply.	Retina	2023
37340071	Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study.	Sci Rep	2023
37107549	The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.	Genes (Basel)	2023
36705323	Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration.	Elife	2023
36669873	EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.	J Med Genet	2023
34587495	Primary X-linked megalocornea presenting in adulthood.	Am J Ophthalmol	2022
35803923	The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.	Nat Commun	2022
35633130	Clinical and genetic findings in TRPM1-related congenital stationary night blindness.	Acta Ophthalmol	2022
35561216	Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26.	Proc Natl Acad Sci U S A	2022
35933957	Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing.	Stem Cell Res	2022
36191840	Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.	J Mol Diagn	2022
33766936	Improving the clinical interpretation of missense variants in X linked genes using structural analysis.	J Med Genet	2022
32817297	Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.	J Med Genet	2021
34125159	North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.	Invest Ophthalmol Vis Sci	2021
34260948	Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.	Am J Hum Genet	2021
33353976	Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.	Genet Med	2021
32176120	Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.	Otol Neurotol	2020
32050448	Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.	Genes (Basel)	2020
31848469	Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.	Genet Med	2020
32340307	An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.	Genes (Basel)	2020
32313206	Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.	Eur J Hum Genet	2020
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
31719542	Clinical and genetic variability in children with partial albinism.	Sci Rep	2019
30120129	Variability in the ocular phenotype in mucopolysaccharidosis.	Br J Ophthalmol	2019
31416457	Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.	Orphanet J Rare Dis	2019
31280272	Inherited Retinal Disorders: Using Evidence as a Driver for Implementation.	Ophthalmologica	2019
30626441	An ontological foundation for ocular phenotypes and rare eye diseases.	Orphanet J Rare Dis	2019
29074561	Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.	J Med Genet	2018
29784175	Late-onset Leber hereditary optic neuropathy presenting after intraocular surgery.	Can J Ophthalmol	2018
27551809	Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.	Clin Exp Ophthalmol	2017
28341476	Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.	Ophthalmology	2017
28378820	Validation of copy number variation analysis for next-generation sequencing diagnostics.	Eur J Hum Genet	2017
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
28033445	An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.	JAMA Ophthalmol	2017
27678338	Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma.	Acta Ophthalmol	2017
26872967	Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.	Ophthalmology	2016
27628848	The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.	Orphanet J Rare Dis	2016
27208204	Molecular findings from 537 individuals with inherited retinal disease.	J Med Genet	2016
27548298	Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome.	JAMA Ophthalmol	2016
25159689	Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.	Neurogenetics	2015
26720460	Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.	Invest Ophthalmol Vis Sci	2015
26113502	Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.	Eye (Lond)	2015
26167768	An siRNA-based functional genomics screen for theÂ identification of regulators of ciliogenesis and ciliopathyÂ genes.	Nat Cell Biol	2015
25987160	Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.	Lancet	2015
25983245	Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.	Am J Hum Genet	2015
25797088	Author reply: To PMID 24480711.	Ophthalmology	2015

1 - 50 of 82

Mathieu Quinodoz

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 2014

Number of shared co-authors 9

Adam P DeLuca

Institute for Vision Research, Carver College of Medicine, University of Iowa

Career Start Year 2008

Number of shared co-authors 7

Shyamanga Borooah

Shiley Eye Institute, University of California

Career Start Year 2007

Number of shared co-authors 8

Rinki Ratnapriya

National Eye Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 14

David R Adams

National Human Genome Research Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 32

Abigail T Fahim

University of Michigan (A.T.F.) ann arbor

Career Start Year 2007

Number of shared co-authors 5

Kerry E Goetz

National Eye Institute, National Institute of Health

Career Start Year 2005

Number of shared co-authors 2

Hoai Viet Tran

University Eye Hospital Jules Gonin

Career Start Year 2002

Number of shared co-authors 8

Patrick Yu-Wai-Man

University of Cambridge

Career Start Year 2002

Number of shared co-authors 27

Perciliz L Tan

Center for Human Disease Modeling, Duke University School of Medicine

Career Start Year 2002

Number of shared co-authors 5

Sylvain Hanein

Institute of Genetic Diseases, INSERM UMR1163, Imagine and Paris Descartes University

Career Start Year 2001

Number of shared co-authors 4

Zhenglin Yang

The University of Texas at Austin

Career Start Year 2000

Number of shared co-authors 13

Jeaneen L Andorf

Institute for Vision Research, Carver College of Medicine, University of Iowa

Career Start Year 2000

Number of shared co-authors 11

Terry A Braun

University of Iowa

Career Start Year 1999

Number of shared co-authors 10

Mark E Pennesi

Casey Eye Institute at Oregon Health & Science University (OHSU)

Career Start Year 1998

Number of shared co-authors 13

Jacque L Duncan

University of California san francisco

Career Start Year 1998

Number of shared co-authors 12

Carlo Rivolta

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 1997

Number of shared co-authors 17

Benjamin Bakall

University of Arizona College of Medicine

Career Start Year 1996

Number of shared co-authors 8

Caroline C W Klaver

Erasmus Medical Center

Career Start Year 1995

Number of shared co-authors 23

Radha Ayyagari

Shiley Eye Institute, University of California San Diego

Career Start Year 1993

Number of shared co-authors 7

Jamie E Craig

Flinders Medical Centre, Flinders University

Career Start Year 1992

Number of shared co-authors 18

Paul N Baird

The University of Melbourne

Career Start Year 1988

Number of shared co-authors 14

Kang Zhang

College of Animal Science and Technology, Guangxi University

Career Start Year 1987

Number of shared co-authors 15

Nicola K Ragge

Oxford Brookes University

Career Start Year 1987

Number of shared co-authors 11

Rando Allikmets

Columbia University Medical Center

Career Start Year 1985

Number of shared co-authors 18

Arlene V Drack

University of Iowa Carver College of Medicine

Career Start Year 1984

Number of shared co-authors 8

Val C Sheffield

Carver College of Medicine, University of Iowa

Career Start Year 1980

Number of shared co-authors 17

Michael B Gorin

Jules Stein Eye Institute

Career Start Year 1979

Number of shared co-authors 14

Anand Swaroop

National Eye Institute, National Institutes of Health

Career Start Year 1967

Number of shared co-authors 18

Richard G Weleber

Casey Eye Institute, Oregon Health & Science University

Career Start Year 1967

Number of shared co-authors 14

row(s) 1 - 30 of 30

Andrew R Webster

Institute of Ophthalmology, University College London

Co-authored papers 38

Graeme C M Black

Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital

Co-authored papers 36

Anthony T Moore

UCL Institute of Ophthalmology, University College London

Co-authored papers 30

Jamie M Ellingford

University of Manchester

Co-authored papers 19

Michel Michaelides

Institute of Ophthalmology, University College London

Co-authored papers 16

Georgina Hall

The University of Melbourne, The Royal Children's Hospital

Co-authored papers 8

Gavin Arno

Institute of Ophthalmology, University College London

Co-authored papers 6

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Co-authored papers 6

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 5

Valentina Cipriani

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 4

Annie Olry

INSERM

Co-authored papers 4

Sofia Douzgou

Haukeland University Hospital

Co-authored papers 4

Ana Rath

INSERM

Co-authored papers 4

Rachel Thompson

Children's Hospital of Eastern Ontario Research Institute

Co-authored papers 4

H??l??ne Dollfus

Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg

Co-authored papers 3

Doroth??e Leroux

Hopitaux Universitaires de Strasbourg

Co-authored papers 3

Julius O B Jacobsen

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 3

David A D Parry

Co-authored papers 3

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 3

Martin McKibbin

Leeds Teaching Hospitals NHS Trust

Co-authored papers 3

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 2

George Moussa

Sandwell and West Birmingham Hospitals NHS Trust

Co-authored papers 2

Kym M Boycott

Children's Hospital of Eastern Ontario

Co-authored papers 2

Colin A Johnson

University of Leeds Leeds Institute of Medical Research at St James's

Co-authored papers 2

Richard D Unwin

Co-authored papers 2