Moosajee lab
Ocular Genomics and Therapeutics Laboratory
: Publications

Publications

Displaying 1 - 20 of 124

Last updated : 18 April 2024 02:06

Inherited optic neuropathies: Real-world experience in the paediatric neuro-ophthalmology clinic

Authors (4)

Michael James Gilhooley
Naz Raoof
Patrick Yu-Wai-Man
Mariya Moosajee

Genes

Published 30 January 2024

Crick labs

Mariya Moosajee

Full details

Spectrum of genetic variants in the commonest genes causing inherited retinal disease in a large molecularly characterised UK cohort

Authors (17)

Siying Lin
Sandra Vermeirsch
Nikolas Pontikos
M Pilar Martin-Gutierrez
Malena Daich Varela
Samantha Malka
[...]
Mariya Moosajee
Michel Michaelides
Omar A Mahroo
Andrew R Webster
Gavin Arno

Ophthalmology Retina

Published 12 January 2024

Crick labs

Mariya Moosajee

Full details

'It would help people to help me': Acceptability of digital phenotyping among young people with visual impairment and their families

Authors (5)

Bethany Higgins
Lee Jones
Kishan Devraj
Caroline Kilduff
Mariya Moosajee

Digital Health

Published 5 January 2024

Crick labs

Mariya Moosajee

Full details

Practice patterns in reporting and documentation of Charles Bonnet syndrome: a retrospective review following COVID-19

Authors (4)

Dalia Abdulhussein
Lee Jones
Sri Harsha Dintakurti
Mariya Moosajee

Therapeutic Advances in Ophthalmology

Published 1 January 2024

Crick labs

Mariya Moosajee

Full details

Longitudinal changes of retinal structure in molecularly confirmed C1QTNF5 patients with late-onset retinal degeneration

Authors (4)

Riccardo Cheloni
Ashwin Venkatesh
Ana Catalina Rodriguez-Martinez
Mariya Moosajee

Translational Vision Science and Technology

Published 1 December 2023

Crick labs

Mariya Moosajee

Full details

Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia

Authors (8)

Hajrah Sarkar
Dhani Tracey-White
Ahmed M Hagag
Thomas Burgoyne
Neelima Nair
Lasse D Jensen
Malia M Edwards
Mariya Moosajee

BBA: Molecular Basis of Disease

Published 1 February 2024

Crick labs

Mariya Moosajee

Full details

Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy

Authors (4)

Riccardo Cheloni
Neil Clough
Daniel Jackson
Mariya Moosajee

Eye

Published 28 October 2023

Crick labs

Mariya Moosajee

Full details

Identification of the regulatory circuit governing corneal epithelial fate determination and disease

Authors (17)

Jos GA Smits
Dulce Lima Cunha
Maryam Amini
Marina Bertolin
Camille Laberthonnière
Jieqiong Qu
[...]
Mariya Moosajee
Daniel Aberdam
Nora Szentmary
Simon J van Heeringen
Huiqing Zhou

PLOS Biology

Published 19 October 2023

Crick labs

Mariya Moosajee

Full details

Gene augmentation of CHM using non-viral episomal vectors in models of choroideremia

Authors (5)

Lyes Toualbi
Maria Toms
Patrick Vingadas Almeida
Richard Harbottle
Mariya Moosajee

International Journal of Molecular Sciences

Published 16 October 2023

Crick labs

Mariya Moosajee

Full details

Foveal hypoplasia in CRB1-related retinopathies

Authors (9)

Ana Catalina Rodriguez-Martinez
Bethany Elora Higgins
Vijay Tailor-Hamblin
Samantha Malka
Riccardo Cheloni
Alexander Mark Collins
John Bladen
Robert Henderson
Mariya Moosajee

International Journal of Molecular Sciences

Published 11 September 2023

Crick labs

Mariya Moosajee

Full details

Oxidative and endoplasmic reticulum stress represent novel therapeutic targets for choroideremia

Authors (4)

Hajrah Sarkar
Manuela Lahne
Neelima Nair
Mariya Moosajee

Antioxidants

Published 30 August 2023

Crick labs

Mariya Moosajee

Full details

The genetic determinants of axial length: From microphthalmia to high myopia in childhood

Authors (2)

Daniel Jackson
Mariya Moosajee

Annual Review of Genomics and Human Genetics

Published 1 August 2023

Crick labs

Mariya Moosajee

Full details

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs

Authors (6)

Dulce Lima Cunha
Hajrah Sarkar
Jonathan Eintracht
Philippa Harding
Jo Huiqing Zhou
Mariya Moosajee

Molecular Therapy : Nucleic Acids

Published 12 September 2023

Crick labs

Mariya Moosajee

Full details

Nuclear receptor subfamily 2 group E member 3 (NR2E3): Role in retinal development and disease

Authors (3)

Maria Toms
Natasha Ward
Mariya Moosajee

Genes

Published 23 June 2023

Crick labs

Mariya Moosajee

Full details

Successful large gene augmentation of USH2A with non-viral episomal vectors

Authors (5)

Maria Toms
Lyes Toualbi
Patrick V Almeida
Richard Harbottle
Mariya Moosajee

Molecular Therapy

Published 6 September 2023

Crick labs/ facilities

Full details

Establishment and characterization of an iPSC line (UCLi023-A) derived from a Late-Onset Retinal Degeneration patient carrying a founder mutation in C1QTNF5

Authors (5)

Ana Alonso-Carriazo Fernández
Phoebe Ashley-Norman
Zaynab Butt
Mariya Moosajee
Amanda-Jayne Francis Carr

Stem Cell Research

Published 1 June 2023

Crick labs

Mariya Moosajee

Full details

OPA1 dominant optic atrophy: Pathogenesis and therapeutic targets

Authors (7)

David CS Wong
Joshua P Harvey
Neringa Jurkute
Sara M Thomasy
Mariya Moosajee
Patrick Yu-Wai-Man
Michael J Gilhooley

Journal of Neuro-Ophthalmology

Published 1 December 2023

Crick labs

Mariya Moosajee

Full details

Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate species

Authors (7)

Violeta Trejo-Reveles
Nicholas Owen
Brian Ho Ching Chan
Maria Toms
Jeffrey J Schoenebeck
Mariya Moosajee
Joe Rainger

Biomolecules

Published 4 February 2023

Crick labs

Mariya Moosajee

Full details

Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina

Authors (10)

Nicholas Owen
Maria Toms
Yuan Tian
Lyes Toualbi
Rose Richardson
Rodrigo Young
Dhani Tracey-White
Pawan Dhami
Stephan Beck
Mariya Moosajee

Journal of Pathology

Published 1 April 2023

Crick labs

Mariya Moosajee

Full details

PAX6 disease models for aniridia

Authors (4)

Dorsa Abdolkarimi
Dulce Lima Cunha
Manuela Lahne
Mariya Moosajee

Indian Journal of Ophthalmology

Published 1 December 2022

Crick labs

Mariya Moosajee

Full details

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Moosajee lab
Ocular Genomics and Therapeutics Laboratory
: Publications

Lab content

Publications

Crick/Pre-Crick

Inherited optic neuropathies: Real-world experience in the paediatric neuro-ophthalmology clinic

Spectrum of genetic variants in the commonest genes causing inherited retinal disease in a large molecularly characterised UK cohort

'It would help people to help me': Acceptability of digital phenotyping among young people with visual impairment and their families

Practice patterns in reporting and documentation of Charles Bonnet syndrome: a retrospective review following COVID-19

Longitudinal changes of retinal structure in molecularly confirmed C1QTNF5 patients with late-onset retinal degeneration

Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia

Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy

Identification of the regulatory circuit governing corneal epithelial fate determination and disease

Gene augmentation of CHM using non-viral episomal vectors in models of choroideremia

Foveal hypoplasia in CRB1-related retinopathies

Oxidative and endoplasmic reticulum stress represent novel therapeutic targets for choroideremia

The genetic determinants of axial length: From microphthalmia to high myopia in childhood

Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs

Nuclear receptor subfamily 2 group E member 3 (NR2E3): Role in retinal development and disease

Successful large gene augmentation of USH2A with non-viral episomal vectors

Establishment and characterization of an iPSC line (UCLi023-A) derived from a Late-Onset Retinal Degeneration patient carrying a founder mutation in C1QTNF5

OPA1 dominant optic atrophy: Pathogenesis and therapeutic targets

Identification of novel coloboma candidate genes through conserved gene expression analyses across four vertebrate species

Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina

PAX6 disease models for aniridia

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Research case studies

Postdoctoral clinical fellows

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About us

Lab content

Publications

Crick/Pre-Crick

Publications

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