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

por Green, David J., Sallah, Shalaw R., Ellingford, Jamie M., Lovell, Simon C., Sergouniotis, Panagiotis I.
Publicado 2020

An ontological foundation for ocular phenotypes and rare eye diseases

por Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène
Publicado 2019

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

por Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélène
Publicado 2019

Clinical characteristics of early retinal disease due to CDHR1 mutation

por Ba-Abbad, Rola, Sergouniotis, Panagiotis I., Plagnol, Vincent, Robson, Anthony G., Michaelides, Michel, Holder, Graham E., Webster, Andrew R.
Publicado 2013

Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study

por Julian, Thomas H., Girach, Zain, Sanderson, Eleanor, Guo, Hui, Yu, Jonathan, Cooper-Knock, Johnathan, Black, Graeme C., Sergouniotis, Panagiotis I.
Publicado 2023

Improving the clinical interpretation of missense variants in X linked genes using structural analysis

por Sallah, Shalaw Rassul, Ellingford, Jamie M, Sergouniotis, Panagiotis I, Ramsden, Simon C, Lench, Nicholas, Lovell, Simon C, Black, Graeme C
Publicado 2022

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

por Green, David J., Lenassi, Eva, Manning, Cerys S., McGaughey, David, Sharma, Vinod, Black, Graeme C., Ellingford, Jamie M., Sergouniotis, Panagiotis I.
Publicado 2021

Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration

por Julian, Thomas H, Cooper-Knock, Johnathan, MacGregor, Stuart, Guo, Hui, Aslam, Tariq, Sanderson, Eleanor, Black, Graeme CM, Sergouniotis, Panagiotis I
Publicado 2023

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

por Michaud, Vincent, Lasseaux, Eulalie, Green, David J., Gerrard, Dave T., Plaisant, Claudio, Fitzgerald, Tomas, Birney, Ewan, Arveiler, Benoît, Black, Graeme C., Sergouniotis, Panagiotis I.
Publicado 2022

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

por Palmer, Eleanor, Stepien, Karolina M., Campbell, Christopher, Barton, Stephanie, Iosifidis, Christos, Ghosh, Arunabha, Broomfield, Alexander, Woodall, Alison, Wilcox, Gisela, Sergouniotis, Panagiotis I., Black, Graeme C.
Publicado 2023

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

por Cipriani, Valentina, Tierney, Anna, Griffiths, John R., Zuber, Verena, Sergouniotis, Panagiotis I., Yates, John R.W., Moore, Anthony T., Bishop, Paul N., Clark, Simon J., Unwin, Richard D.
Publicado 2021

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis

por Musleh, Mohammud, Bull, Adam, Linton, Emma, Liu, Jingshu, Waller, Sarah, Hardcastle, Claire, Clayton-Smith, Jill, Sharma, Vinod, Black, Graeme C., Biswas, Susmito, Ashworth, Jane L., Sergouniotis, Panagiotis I.
Publicado 2023

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

por Mukhopadhyay, Rajarshi, Sergouniotis, Panagiotis I., Mackay, Donna S., Day, Alexander C., Wright, Genevieve, Devery, Sophie, Leroy, Bart P., Robson, Anthony G., Holder, Graham E., Li, Zheng, Webster, Andrew R.
Publicado 2010

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

por Davidson, Alice E., Sergouniotis, Panagiotis I., Burgess-Mullan, Rosemary, Hart-Holden, Nichola, Low, Sancy, Foster, Paul J., Manson, Forbes D.C., Black, Graeme C.M., Webster, Andrew R.
Publicado 2010

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

por 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. M.
Publicado 2020

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

por Mackay, Donna S., Henderson, Robert H., Sergouniotis, Panagiotis I., Li, Zheng, Moradi, Phillip, Holder, Graham E., Waseem, Naushin, Bhattacharya, Shomi S., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Meyer, Brian, Webster, Andrew R., Moore, Anthony T.
Publicado 2010

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

por Sergouniotis, Panagiotis I., Barton, Stephanie J., Waller, Sarah, Perveen, Rahat, Ellingford, Jamie M., Campbell, Christopher, Hall, Georgina, Gillespie, Rachel L., Bhaskar, Sanjeev S., Ramsden, Simon C., Black, Graeme C., Lovell, Simon C.
Publicado 2016

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

por Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I., Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Robinson, Peter N., Jacobsen, Julius O.B., Smedley, Damian
Publicado 2020

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

por Mcharg, Selina, Booth, Laura, Perveen, Rahat, Riba Garcia, Isabel, Brace, Nicole, Bayatti, Nadhim, Sergouniotis, Panagiotis I., Phillips, Alexander M., Day, Anthony J., Black, Graeme C. M., Clark, Simon J., Dowsey, Andrew W., Unwin, Richard D., Bishop, Paul N.
Publicado 2022

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

por 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 F L, Michaelides, Michel, Ramsden, Simon C, Webster, Andrew R, Black, Graeme C M
Publicado 2018