Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

Siying Lin; Sandra Vermeirsch; Nikolas Pontikos; Maria Pilar Martin-Gutierrez; Malena Daich Varela; Samantha Malka; Elena Schiff; Hannah Knight; Genevieve Wright; Neringa Jurkute; Mark J. Simcoe; Patrick Yu-Wai-Man; Mariya Moosajee; Michel Michaelides; Omar A. Mahroo; Andrew R. Webster; Gavin Arno

doi:10.1016/j.oret.2024.01.012

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

Siying Lin, Sandra Vermeirsch, Nikolas Pontikos, Maria Pilar Martin-Gutierrez, Malena Daich Varela, Samantha Malka, Elena Schiff, Hannah Knight, Genevieve Wright, Neringa Jurkute, Mark J. Simcoe, Patrick Yu-Wai-Man, Mariya Moosajee, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin Arno

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

Original language	Undefined
Journal	Ophthalmology Retina
DOIs	https://doi.org/10.1016/j.oret.2024.01.012
Publication status	Published - Jul 2024

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10.1016/j.oret.2024.01.012

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Lin, S., Vermeirsch, S., Pontikos, N., Martin-Gutierrez, M. P., Varela, M. D., Malka, S., Schiff, E., Knight, H., Wright, G., Jurkute, N., Simcoe, M. J., Yu-Wai-Man, P., Moosajee, M., Michaelides, M., Mahroo, O. A., Webster, A. R., & Arno, G. (2024). Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort. Ophthalmology Retina. https://doi.org/10.1016/j.oret.2024.01.012

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title = "Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort",

author = "Siying Lin and Sandra Vermeirsch and Nikolas Pontikos and Martin-Gutierrez, {Maria Pilar} and Varela, {Malena Daich} and Samantha Malka and Elena Schiff and Hannah Knight and Genevieve Wright and Neringa Jurkute and Simcoe, {Mark J.} and Patrick Yu-Wai-Man and Mariya Moosajee and Michel Michaelides and Mahroo, {Omar A.} and Webster, {Andrew R.} and Gavin Arno",

year = "2024",

month = jul,

doi = "10.1016/j.oret.2024.01.012",

language = "Undefined",

}

Lin, S, Vermeirsch, S, Pontikos, N, Martin-Gutierrez, MP, Varela, MD, Malka, S, Schiff, E, Knight, H, Wright, G, Jurkute, N, Simcoe, MJ, Yu-Wai-Man, P, Moosajee, M, Michaelides, M, Mahroo, OA, Webster, AR & Arno, G 2024, 'Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort', Ophthalmology Retina. https://doi.org/10.1016/j.oret.2024.01.012

TY - JOUR

T1 - Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

AU - Lin, Siying

AU - Vermeirsch, Sandra

AU - Pontikos, Nikolas

AU - Martin-Gutierrez, Maria Pilar

AU - Varela, Malena Daich

AU - Malka, Samantha

AU - Schiff, Elena

AU - Knight, Hannah

AU - Wright, Genevieve

AU - Jurkute, Neringa

AU - Simcoe, Mark J.

AU - Yu-Wai-Man, Patrick

AU - Moosajee, Mariya

AU - Michaelides, Michel

AU - Mahroo, Omar A.

AU - Webster, Andrew R.

AU - Arno, Gavin

PY - 2024/7

Y1 - 2024/7

UR - https://doi.org/10.1016/j.oret.2024.01.012

U2 - 10.1016/j.oret.2024.01.012

DO - 10.1016/j.oret.2024.01.012

M3 - Article

JO - Ophthalmology Retina

JF - Ophthalmology Retina

ER -

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

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