Panagiotis I. Sergouniotis: search on Z-Library

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1

An ontological foundation for ocular phenotypes and rare eye diseases

Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 745 KB

2019

2

Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function

Fujinami, Kaoru, Sergouniotis, Panagiotis I., Davidson, Alice E., Wright, Genevieve, Chana, Ravinder K., Tsunoda, Kazushige, Tsubota, Kazuo, Egan, Catherine A., Robson, Anthony G., Moore, Anthony T.,

Journal:

American Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 3.98 MB

english, 2013

3

Bietti Crystalline Retinopathy: Report of Retinal Crystal Deposition in Male Adolescent Siblings

Manzouri, Bita, Sergouniotis, Panagiotis I., Robson, Anthony G., Webster, Andrew R., Moore, Anthony

Journal:

Archives of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 382 KB

english, 2012

4

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

Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 245 KB

2019

5

Expansion of Ocular Phenotypic Features Associated With Mutations in ADAMTS18

Chandra, Aman, Arno, Gavin, Williamson, Kathleen, Sergouniotis, Panagiotis I., Preising, Markus N., Charteris, David G., Thompson, Dorothy A., Holder, Graham E., Borman, Arundhati Dev, Davagnanam, Ind

Journal:

JAMA Ophthalmology

Year:

2014

Language:

english

File:

PDF, 330 KB

english, 2014

6

Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration)

Soumplis, Vasileios, Sergouniotis, Panagiotis I., Robson, Anthony G., Michaelides, Michel, Moore, Anthony T., Holder, Graham E., Webster, Andrew R.

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2013

Language:

english

File:

PDF, 556 KB

english, 2013

7

Clinical and Molecular Characterization of Enhanced S-Cone Syndrome in Children

Hull, Sarah, Arno, Gavin, Sergouniotis, Panagiotis I., Tiffin, Peter, Borman, Arundhati Dev, Chandra, Aman, Robson, Anthony G., Holder, Graham E., Webster, Andrew R., Moore, Anthony T.

Journal:

JAMA Ophthalmology

Year:

2014

Language:

english

File:

PDF, 478 KB

english, 2014

8

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

Sergouniotis, Panagiotis I, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, Black, Graeme C, Lovell, Simon C, Whitby, David J, Newman, William G, Clayton-Smith, Jill

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 508 KB

english, 2015

9

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

Ellingford, Jamie M, Campbell, Christopher, Barton, Stephanie, Bhaskar, Sanjeev, Gupta, Saurabh, Taylor, Rachel L, Sergouniotis, Panagiotis I, Horn, Bradley, Lamb, Janine A, Michaelides, Michel, Webst

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 358 KB

english, 2017

10

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I., Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Robinson,

Journal:

Year:

2020

File:

PDF, 1.18 MB

2020

11

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

Ellingford, Jamie M, Sergouniotis, Panagiotis I, Lennon, Rachel, Bhaskar, Sanjeev, Williams, Simon G, Hillman, Kate A, O'Sullivan, James, Hall, Georgina, Ramsden, Simon C, Lloyd, I Christopher, Woolf,

Journal:

Year:

2015

Language:

english

File:

PDF, 151 KB

english, 2015

12

Molecular findings from 537 individuals with inherited retinal disease

Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall,

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1016 KB

english, 2016

13

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene

Sergouniotis, Panagiotis I., McKibbin, Martin, Robson, Anthony G., Bolz, Hanno J., De Baere, Elfride, Müller, Philipp L., Heller, Raoul, El-Asrag, Mohammed E., Van Schil, Kristof, Plagnol, Vincent, To

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 1.15 MB

english, 2015

14

Screening of SPATA7 in Patients with Leber Congenital Amaurosis and Severe Childhood-Onset Retinal Dystrophy Reveals Disease-Causing Mutations

Mackay, Donna S., Ocaka, Louise A., Borman, Arundhati Dev, Sergouniotis, Panagiotis I., Henderson, Robert H., Moradi, Phillip, Robson, Anthony G., Thompson, Dorothy A., Webster, Andrew R., Moore, Anth

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 608 KB

english, 2011

15

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Olivier, Guillaume, Corton, Marta, Intartaglia, Daniela, Verbakel, Sanne K, Sergouniotis, Panagiotis I, Le Meur, GuylÃ¨ne, Dhaenens, Claire-Marie, Naacke, HÃ©lÃ¨ne, Avila-FernÃ¡ndez, Almudena, Hoyng,

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 8.70 MB

2020

16

Assessing Retinal Structure in Complete Congenital Stationary Night Blindness and Oguchi Disease

Pooja Godara, Robert F. Cooper, Panagiotis I. Sergouniotis, Melissa A. Diederichs, Megan R. Streb, Mohamed A. Genead, J. Jason McAnany, Andrew R. Webster, Anthony T. Moore, Adam M. Dubis, Maureen Neit

Journal:

American Journal of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 4.38 MB

english, 2012

17

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

Davidson, Alice E., Sergouniotis, Panagiotis I., Mackay, Donna S., Wright, Genevieve A., Waseem, Naushin H., Michaelides, Michel, Holder, Graham E., Robson, Anthony G., Moore, Anthony T., Plagnol, Vin

Journal:

Year:

2013

Language:

english

File:

PDF, 396 KB

english, 2013

18

A Survey of DNA Variation of C2ORF71 in Probands with Progressive Autosomal Recessive Retinal Degeneration and Controls

Sergouniotis, Panagiotis I., Li, Zheng, Mackay, Donna S., Wright, Genevieve A., Borman, Arundhati Dev, Devery, Sophie R., Moore, Anthony T., Webster, Andrew R.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 843 KB

english, 2011

19

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Zheng Li, Panagiotis I. Sergouniotis, Michel Michaelides, Donna S. Mackay, Genevieve A. Wright, Sophie Devery, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Andrew R. Webster

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.30 MB

english, 2009

20

Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy

Panagiotis I. Sergouniotis, Alice E. Davidson, Eva Lenassi, Sophie R. Devery, Anthony T. Moore, Andrew R. Webster

Journal:

Year:

2012

Language:

english

File:

PDF, 2.47 MB

english, 2012

21

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

Davidson, Alice E., Schwarz, Nele, Zelinger, Lina, Stern-Schneider, Gabriele, Shoemark, Amelia, Spitzbarth, Benjamin, Gross, Menachem, Laxer, Uri, Sosna, Jacob, Sergouniotis, Panagiotis I., Waseem, Na

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.83 MB

english, 2013

22

Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

El-Asrag, Mohammed E., Sergouniotis, Panagiotis I., McKibbin, Martin, Plagnol, Vincent, Sheridan, Eamonn, Waseem, Naushin, Abdelhamed, Zakia, McKeefry, Declan, Van Schil, Kristof, Poulter, James A., J

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 296 KB

english, 2015

23

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

Morarji, Jiten, Gillespie, Rachel, Sergouniotis, Panagiotis I., Horvath, Rita, Black, Graeme C. M.

Journal:

JAMA Ophthalmology

Year:

2017

Language:

english

File:

PDF, 1.34 MB

english, 2017

24

Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype

Sergouniotis, Panagiotis I, Robson, Anthony G, El-Asrag, Mohammed E, Ali, Manir, Holder, Graham E, Black, Graeme C, Webster, Andrew R, Plagnol, Vincent

Journal:

Year:

2017

Language:

english

File:

PDF, 63 KB

english, 2017

25

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Halford, Stephanie, Liew, Gerald, Mackay, Donna S., Sergouniotis, Panagiotis I., Holt, Richard, Broadgate, Suzanne, Volpi, Emanuela V., Ocaka, Louise, Robson, Anthony G., Holder, Graham E., Moore, Ant

Journal:

Year:

2014

Language:

english

File:

PDF, 1.67 MB

english, 2014

26

Late-onset Leber hereditary optic neuropathy presenting after intraocular surgery

Sergouniotis, Panagiotis I., Spencer, Anne Fiona, Vishwanath, Mandagere, Bremner, Fion, Ansons, Alec

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Year:

2017

Language:

english

File:

PDF, 194 KB

english, 2017

27

Retinal Structure and Function in Achromatopsia

Sundaram, Venki, Wilde, Caroline, Aboshiha, Jonathan, Cowing, Jill, Han, Colin, Langlo, Christopher S., Chana, Ravinder, Davidson, Alice E., Sergouniotis, Panagiotis I., Bainbridge, James W., Ali, Rob

Journal:

Year:

2014

Language:

english

File:

PDF, 2.01 MB

english, 2014

28

Phenotypic Variability in RDH5 Retinopathy (Fundus Albipunctatus)

Panagiotis I. Sergouniotis, Elliott H. Sohn, Zheng Li, Vikki A. McBain, Genevieve A. Wright, Anthony T. Moore, Anthony G. Robson, Graham E. Holder, Andrew R. Webster

Journal:

Year:

2011

Language:

english

File:

PDF, 2.19 MB

english, 2011

29

The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

Fujinami, Kaoru, Sergouniotis, Panagiotis I., Davidson, Alice E., Mackay, Donna S., Tsunoda, Kazushige, Tsubota, Kazuo, Robson, Anthony G., Holder, Graham E., Moore, Anthony T., Michaelides, Michel, W

Journal:

Year:

2013

Language:

english

File:

PDF, 880 KB

english, 2013

30

Variability in the ocular phenotype in mucopolysaccharidosis

Sornalingam, Krishanthy, Javed, Ahmed, Aslam, Tariq, Sergouniotis, Panagiotis, Jones, Simon, Ghosh, Arunabha, Ashworth, Jane

Journal:

British Journal of Ophthalmology

Year:

2018

Language:

english

File:

PDF, 905 KB

english, 2018

31

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Xu Yang, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 760 KB

english, 2011

32

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

Sergouniotis, Panagiotis I, Ellingford, Jamie M, O'Sullivan, James, Fenerty, Cecilia H, Black, Graeme C

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2016

Language:

english

File:

PDF, 1.13 MB

english, 2016

33

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

Sergouniotis, Panagiotis I., Chakarova, Christina, Murphy, Cian, Becker, Mirjana, Lenassi, Eva, Arno, Gavin, Lek, Monkol, MacArthur, Daniel G., Bhattacharya, Shomi S., Moore, Anthony T., Holder, Graha

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.78 MB

english, 2014

34

Inherited Retinal Disorders: Using Evidence as a Driver for Implementation

Sergouniotis, Panagiotis I.

Journal:

Ophthalmologica

Year:

2019

Language:

english

File:

PDF, 267 KB

english, 2019

35

Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina

Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Eva Lenassi, Zheng Li, Anthony G. Robson, Xu Yang, Jaimie Hoh Kam, Timothy W. Isaacs, Graham E. Holder, Glen Jeffery, Jonathan A. Beck,

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.25 MB

english, 2011

36

Variability in the ocular phenotype in mucopolysaccharidosis

Sornalingam, Krishanthy, Javed, Ahmed, Aslam, Tariq, Sergouniotis, Panagiotis, Jones, Simon, Ghosh, Arunabha, Ashworth, Jane

Journal:

British Journal of Ophthalmology

Year:

2018

File:

PDF, 905 KB

2018

37

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

Sallah, Shalaw R., Sergouniotis, Panagiotis I., Barton, Stephanie, Ramsden, Simon, Taylor, Rachel L., Safadi, Amro, Kabir, Mitra, Ellingford, Jamie M., Lench, Nick, Lovell, Simon C., Black, Graeme C.

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 1.05 MB

2020

38

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

Ellingford, Jamie M, Sergouniotis, Panagiotis I, Jenkins, Emma, Black, Graeme C

Journal:

Clinical & Experimental Ophthalmology

Year:

2017

Language:

english

File:

PDF, 330 KB

english, 2017

39

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders

Green, David J., Sallah, Shalaw R., Ellingford, Jamie M., Lovell, Simon C., Sergouniotis, Panagiotis I.

Journal:

Year:

2020

File:

PDF, 1.01 MB

2020

40

Clinical and molecular genetic findings in autosomal dominantOPA3-related optic neuropathy

Sergouniotis, Panagiotis I., Perveen, Rahat, Thiselton, Dawn L., Giannopoulos, Konstantinos, Sarros, Marios, Davies, Jennifer R., Biswas, Susmito, Ansons, Alec M., Ashworth, Jane L., Lloyd, I. Christo

Journal:

Year:

2015

Language:

english

File:

PDF, 344 KB

english, 2015

41

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

Ellingford, Jamie M., Barton, Stephanie, Bhaskar, Sanjeev, Williams, Simon G., Sergouniotis, Panagiotis I., O'Sullivan, James, Lamb, Janine A., Perveen, Rahat, Hall, Georgina, Newman, William G., Bish

Journal:

Year:

2016

Language:

english

File:

PDF, 766 KB

english, 2016

42

Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome

Sergouniotis, Panagiotis I., Hadfield, Kristen D., Black, Graeme C.

Journal:

JAMA Ophthalmology

Year:

2016

Language:

english

File:

PDF, 96 KB

english, 2016

43

Author reply

Halford, Stephanie, Liew, Gerald, Mackay, Donna S., Sergouniotis, Panagiotis I., Holt, Richard, Broadgate, Suzanne, Volpi, Emanuela V., Ocaka, Louise, Robson, Anthony G., Holder, Graham E., Moore, Ant

Journal:

Year:

2015

Language:

english

File:

PDF, 78 KB

english, 2015

44

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Ellingford, Jamie M, Horn, Bradley, Campbell, Christopher, Arno, Gavin, Barton, Stephanie, Tate, Catriona, Bhaskar, Sanjeev, Sergouniotis, Panagiotis I, Taylor, Rachel L, Carss, Keren J, Raymond, Lucy

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 474 KB

english, 2017

45

Establishing Genotypeâphenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation

Molina-RamÃrez, Leslie P., Lenassi, Eva, Ellingford, Jamie M., Sergouniotis, Panagiotis I., Ramsden, Simon C., Bruce, Iain A., Black, Graeme C. M.

Journal:

Otology & Neurotology

Year:

2020

File:

PDF, 424 KB

2020

46

Pediatric Ophthalmology and Strabismus || Flecked retina disorders

Sergouniotis, Panagiotis

Year:

2013

File:

PDF, 15.40 MB

2013

47

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

Panagiotis I. Sergouniotis, Anthony G. Robson, Zheng Li, Sophie Devery, Graham E. Holder, Anthony T. Moore, Andrew R. Webster

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2012

Language:

english

File:

PDF, 272 KB

english, 2012

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