Moosajee lab
Ocular Genomics and Therapeutics Laboratory
: Publications

Publications

Displaying 1 - 20 of 75

Last updated : 20 April 2024 03:49

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

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

Impact of the COVID-19 pandemic on the research activities of UK ophthalmologists

Authors (5)

HDJ Hogg
L Low
JE Self
Royal College of Ophthalmologists’ Academic and Research Subcommittee
JS Rahi

Eye

Published 1 July 2023

Crick labs

Mariya Moosajee

Full details

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma

Authors (6)

Philippa Harding
Sri Gore
Samantha Malka
Jayashree Rajkumar
Ngozi Oluonye
Mariya Moosajee

British Journal of Ophthalmology

Published 1 December 2023

Crick labs

Mariya Moosajee

Full details

Investigating biomarkers for USH2A retinopathy using multimodal retinal imaging

Authors (7)

Jasdeep S Gill
Vasileios Theofylaktopoulos
Andreas Mitsios
Sarah Houston
Ahmed M Hagag
Adam M Dubis
Mariya Moosajee

International Journal of Molecular Sciences

Published 11 April 2022

Crick labs

Mariya Moosajee

Full details

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

Authors (8)

Nicholas Owen
Maria Toms
Rodrigo M Young
Jonathan Eintracht
Hajrah Sarkar
Brian P Brooks
Mariya Moosajee
Genomics England Research Consortium

Genetics in Medicine

Published 1 May 2022

Crick labs

Mariya Moosajee

Full details

Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study

Authors (12)

Saskia C Sanderson
Celine Lewis
Melissa Hill
Michelle Peter
Meriel McEntagart
Daniel Gale
[...]
Mariya Moosajee
Beverly Searle
Amy Hunter
Christine Patch
Lyn S Chitty

Genetics in Medicine

Published 1 January 2022

Crick labs

Mariya Moosajee

Full details

A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay

Authors (10)

G Cairns
F Burté
R Price
E O’Connor
M Toms
R Mishra
Mariya Moosajee
A Pyle
JA Sayer
P Yu-Wai-Man

Scientific Reports

Published 14 October 2021

Crick labs

Mariya Moosajee

Full details

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

Authors (4)

Jonathan Eintracht
Elizabeth Forsythe
Helen May-Simera
Mariya Moosajee

EBioMedicine

Published 1 August 2021

Crick labs

Mariya Moosajee

Full details

Foveal structure and visual function in nanophthalmos and posterior microphthalmos

Authors (13)

Philipp L Müller
Tim Treis
Abdulrahman Alsaedi
Andrew R Webster
Peng Khaw
Michel Michaelides
[...]
Paul Foster
Mariya Moosajee
Carlos Pavesio
Adnan Tufail
Catherine Egan

British Journal of Ophthalmology

Published 21 July 2022

Crick labs

Mariya Moosajee

Full details

Bilateral macular drusen in acquired partial lipodystrophy with type 2 membranoproliferative glomerulonephritis

Authors (4)

Alexander Tanner
Hwei Wuen Chan
Anna Stears
Mariya Moosajee

BMJ Case Reports

Published 21 June 2021

Crick labs

Mariya Moosajee

Full details

Publication objectives and processes at the British Journal of Ophthalmology: what authors and readers need to know

Authors (4)

Frank Larkin
Ludwig M Heindl
Mingguang He
Mariya Moosajee

British Journal of Ophthalmology

Published 1 August 2021

Crick labs

Mariya Moosajee

Full details

Prospective study of the phenotypic and mutational spectrum of ocular albinism and oculocutaneous albinism

Authors (7)

Hwei Wuen Chan
Elena R Schiff
Vijay K Tailor
Samantha Malka
Magella M Neveu
Maria Theodorou
Mariya Moosajee

Genes (Basel)

Published 30 March 2021

Crick labs

Mariya Moosajee

Full details

REP1-deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia

Authors (11)

Dulce Lima Cunha
Rose Richardson
Dhani Tracey-White
Alessandro Abbouda
Andreas Mitsios
Verena Horneffer-van der Sluis
Panteleimon Takis
Nicholas Owen
Jane Skinner
Ailsa A Welch
Mariya Moosajee

JCI insight

Published 22 April 2021

Crick labs

Mariya Moosajee

Full details

A newly developed web-based resource on genetic eye disorders for users with visual impairment (Gene.Vision): Usability study

Authors (4)

Jian Lee Yeong
Peter Thomas
James Buller
Mariya Moosajee

Journal of Medical Internet Research

Published 1 January 2021

Crick labs

Mariya Moosajee

Full details

Longitudinal study to assess the quantitative use of fundus autofluorescence for monitoring disease progression in choroideremia

Authors (7)

Adam M Dubis
Wei S Lim
Jasleen K Jolly
Maria Toms
Robert E MacLaren
Andrew R Webster
Mariya Moosajee

Journal of Clinical Medicine

Published 11 January 2021

Crick labs

Mariya Moosajee

Full details

Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditions

Authors (7)

Cecile Mejecase
Philippa Harding
Hajrah Sarkar
Jonathan Eintracht
Dulce Lima Cunha
Lyes Toualbi
Mariya Moosajee

Stem Cell Research

Published 1 December 2020

Crick labs

Mariya Moosajee

Full details

PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism

Authors (6)

Dulce Lima Cunha
Nicholas Owen
Vijay Tailor
Marta Corton
Maria Theodorou
Mariya Moosajee

European Journal of Human Genetics

Published 1 February 2021

Crick labs

Mariya Moosajee

Full details

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

Authors (6)

Daniel Jackson
Samantha Malka
Philippa Harding
Juliana Palma
Hannah Dunbar
Mariya Moosajee

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Published 1 September 2020

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

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

Impact of the COVID-19 pandemic on the research activities of UK ophthalmologists

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma

Investigating biomarkers for USH2A retinopathy using multimodal retinal imaging

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study

A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

Foveal structure and visual function in nanophthalmos and posterior microphthalmos

Bilateral macular drusen in acquired partial lipodystrophy with type 2 membranoproliferative glomerulonephritis

Publication objectives and processes at the British Journal of Ophthalmology: what authors and readers need to know

Prospective study of the phenotypic and mutational spectrum of ocular albinism and oculocutaneous albinism

REP1-deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia

A newly developed web-based resource on genetic eye disorders for users with visual impairment (Gene.Vision): Usability study

Longitudinal study to assess the quantitative use of fundus autofluorescence for monitoring disease progression in choroideremia

Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditions

PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism

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

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Research case studies

Postdoctoral clinical fellows

Hello Brain!

News and reports

About us

Lab content

Publications

Crick/Pre-Crick

Publications

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