Concepedia

Author

Mariya Moosajee

University College LondonORCID

Also Known As

M Moosajee, M. Moosajee, Mariya Moosajee, Moosajee, M, Moosajee, M., Moosajee, Mariya

260

Publications

3.6K

Citations

30

H-Index

74

Concepts

All Affiliations

University College LondonMoorfields Eye Hospital NHS Foundation TrustMoorfields Eye HospitalGreat Ormond Street Hospital for Children NHS Foundation TrustThe Francis Crick Institute
MM

About

Mariya Moosajee is an author at University College London specializing in medicine, ophthalmology, and glaucoma.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

15

19

482

2

Health Sciences

3

3

70

3

Engineering

2

2

135

4

Public Health

1

1

17

5

Social Sciences

1

1

16

Mariya Moosajee

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73

Publications

2.1K

Citations

25

H-Index

YearCitations

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Nikolas Pontikos, Gavin Arno, Neringa Jurkutė,

Ophthalmology

2020

244

The Oculome Panel Test

Aara Patel, Jane Hayward, Vijay Tailor,

Ophthalmology

2019

105

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim,

Nature

2024

93

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

Mariya Moosajee, Dhani Tracey‐White, Matthew Smart,

Human Molecular Genetics

2016

74

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease

Mariya Moosajee, Kevin Gregory‐Evans, Charles D. Ellis,

Human Molecular Genetics

2008

65

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

Cheryl Y. Gregory‐Evans, Mariya Moosajee, Matt Hodges,

Human Molecular Genetics

2007

59

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i>

Sarah Hull, Nicholas Owen, Farrah Islam,

Investigative Ophthalmology & Visual Science

2016

51

Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

Eszter Balogh, Jennifer C. Chandler, Máté Varga,

Proceedings of the National Academy of Sciences

2020

51

Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa

Karen I. Guerin, Cheryl Y. Gregory‐Evans, Matt Hodges,

Experimental Eye Research

2008

50

Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom

Daniel Jackson, Samantha Malka, Philippa Harding,

American Journal of Medical Genetics Part C Seminars in Medical Genetics

2020

49

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