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Breadcrumb Mariya Moosajee Moosajee lab Ocular Genomics and Therapeutics Laboratory : Publications Lab contentLab contentIn this section Overview Vacancies Members Areas of interest Publications PublicationsCrick/Pre-CrickCrick publications (22)Pre-Crick publications (66) Facet Crick/Pre-Crick Publications Displaying 1 - 20 of 88Last updated : 06 June 2023 03:24 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 labsMariya MoosajeeFull details Involvement of oxidative and endoplasmic reticulum stress in RDH12-related retinopathies Authors (3)Hajrah Sarkar Maria TomsMariya Moosajee International Journal of Molecular Sciences Published 18 August 2021 Crick labs/ facilitiesMariya MoosajeePeptide ChemistryElectron MicroscopyFull 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-SimeraMariya Moosajee EBioMedicine Published 1 August 2021 Crick labsMariya MoosajeeFull details An overview of psychological and social factors in Charles Bonnet syndrome Authors (4) Lee Jones Lara Ditzel-Finn Jamie EnochMariya Moosajee Therapeutic Advances in Ophthalmology Published 1 January 2021 Crick labsMariya MoosajeeFull 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 FosterMariya Moosajee Carlos Pavesio Adnan Tufail Catherine Egan British Journal of Ophthalmology Published 22 July 2021 Crick labsMariya MoosajeeFull details Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants Authors (7)Hajrah SarkarCecile Mejecase Philippa Harding Jonathan EintrachtLyes Toualbi Dulce Lima CunhaMariya Moosajee Stem Cell Research Published 1 July 2021 Crick labsMariya MoosajeeFull details Bilateral macular drusen in acquired partial lipodystrophy with type 2 membranoproliferative glomerulonephritis Authors (4) Alexander Tanner Hwei Wuen Chan Anna StearsMariya Moosajee BMJ Case Reports Published 21 June 2021 Crick labsMariya MoosajeeFull details Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia Authors (4) Vivienne Kit Dulce Lima Cunha Ahmed M HagagMariya Moosajee JCI insight Published 22 July 2021 Crick labsMariya MoosajeeFull 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 HeMariya Moosajee British Journal of Ophthalmology Published 1 August 2021 Crick labsMariya MoosajeeFull 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 TheodorouMariya Moosajee Genes (Basel) Published 30 March 2021 Crick labsMariya MoosajeeFull 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 WelchMariya Moosajee JCI insight Published 22 April 2021 Crick labsMariya MoosajeeFull details Metabolism in the zebrafish retina Authors (3) N Jaroszynska P HardingMariya Moosajee Journal of Developmental Biology Published 15 March 2021 Crick labsMariya MoosajeeFull details The genetic and clinical features of FOXL2-related blepharophimosis, ptosis and epicanthus inversus syndrome Authors (4) C Méjécase C NigamMariya Moosajee JC Bladen Genes Published 4 March 2021 Crick labsMariya MoosajeeFull details EPHA2 segregates with microphthalmia and congenital cataracts in two unrelated families Authors (7) Philippa Harding Maria Toms Elena Schiff Nicholas Owen Suzannah Bell Ian Christopher LloydMariya Moosajee International Journal of Molecular Sciences Published 22 February 2021 Crick labsMariya MoosajeeFull details Acceptability of telegenetics for families with genetic eye diseases Authors (4) Suzannah Bell Urvi Karamchandani Kirsten MalcolmsonMariya Moosajee Genes (Basel) Published 15 February 2021 Crick labsMariya MoosajeeFull details Exacerbation of visual hallucinations in Charles Bonnet syndrome due to the social implications of COVID-19 Authors (4) Lee Jones Lara Ditzel-Finn Judith PottsMariya Moosajee BMJ Open Ophthalmology Published 11 February 2021 Crick labsMariya MoosajeeFull details Ocular phenotype associated with DYRK1A variants Authors (4) Cécile Méjécase Christopher M Way Nicholas OwenMariya Moosajee Genes (Basel) Published 5 February 2021 Crick labsMariya MoosajeeFull details A novel splice-site variant in CACNA1F causes a phenotype synonymous with Åland island eye disease and incomplete congenital stationary night blindness Authors (5) Usman Mahmood Cécile Méjécase Syed MA AliMariya Moosajee Igor Kozak Genes (Basel) Published 27 January 2021 Crick labsMariya MoosajeeFull details Novel biallelic variants and phenotypic features in patients with SLC38A8-related foveal hypoplasia Authors (6) Elena R Schiff Vijay K Tailor Hwei Wuen Chan Maria Theodorou Andrew R WebsterMariya Moosajee International Journal of Molecular Sciences Published 24 January 2021 Crick labsMariya MoosajeeFull details From transcriptomics to treatment in inherited optic neuropathies Authors (4) Michael James Gilhooley Nicholas OwenMariya Moosajee Patrick Yu Wai Man Genes Published 22 January 2021 Crick labsMariya MoosajeeFull details Pagination Current page 1 Page 2 Page 3 Page 4 Page 5 Next page Next Last page Last Share the page Share on Twitter Share on Facebook Share on LinkedIn Share on Email
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 labsMariya MoosajeeFull details
Involvement of oxidative and endoplasmic reticulum stress in RDH12-related retinopathies Authors (3)Hajrah Sarkar Maria TomsMariya Moosajee International Journal of Molecular Sciences Published 18 August 2021 Crick labs/ facilitiesMariya MoosajeePeptide ChemistryElectron MicroscopyFull 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-SimeraMariya Moosajee EBioMedicine Published 1 August 2021 Crick labsMariya MoosajeeFull details
An overview of psychological and social factors in Charles Bonnet syndrome Authors (4) Lee Jones Lara Ditzel-Finn Jamie EnochMariya Moosajee Therapeutic Advances in Ophthalmology Published 1 January 2021 Crick labsMariya MoosajeeFull 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 FosterMariya Moosajee Carlos Pavesio Adnan Tufail Catherine Egan British Journal of Ophthalmology Published 22 July 2021 Crick labsMariya MoosajeeFull details
Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants Authors (7)Hajrah SarkarCecile Mejecase Philippa Harding Jonathan EintrachtLyes Toualbi Dulce Lima CunhaMariya Moosajee Stem Cell Research Published 1 July 2021 Crick labsMariya MoosajeeFull details
Bilateral macular drusen in acquired partial lipodystrophy with type 2 membranoproliferative glomerulonephritis Authors (4) Alexander Tanner Hwei Wuen Chan Anna StearsMariya Moosajee BMJ Case Reports Published 21 June 2021 Crick labsMariya MoosajeeFull details
Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia Authors (4) Vivienne Kit Dulce Lima Cunha Ahmed M HagagMariya Moosajee JCI insight Published 22 July 2021 Crick labsMariya MoosajeeFull 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 HeMariya Moosajee British Journal of Ophthalmology Published 1 August 2021 Crick labsMariya MoosajeeFull 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 TheodorouMariya Moosajee Genes (Basel) Published 30 March 2021 Crick labsMariya MoosajeeFull 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 WelchMariya Moosajee JCI insight Published 22 April 2021 Crick labsMariya MoosajeeFull details
Metabolism in the zebrafish retina Authors (3) N Jaroszynska P HardingMariya Moosajee Journal of Developmental Biology Published 15 March 2021 Crick labsMariya MoosajeeFull details
The genetic and clinical features of FOXL2-related blepharophimosis, ptosis and epicanthus inversus syndrome Authors (4) C Méjécase C NigamMariya Moosajee JC Bladen Genes Published 4 March 2021 Crick labsMariya MoosajeeFull details
EPHA2 segregates with microphthalmia and congenital cataracts in two unrelated families Authors (7) Philippa Harding Maria Toms Elena Schiff Nicholas Owen Suzannah Bell Ian Christopher LloydMariya Moosajee International Journal of Molecular Sciences Published 22 February 2021 Crick labsMariya MoosajeeFull details
Acceptability of telegenetics for families with genetic eye diseases Authors (4) Suzannah Bell Urvi Karamchandani Kirsten MalcolmsonMariya Moosajee Genes (Basel) Published 15 February 2021 Crick labsMariya MoosajeeFull details
Exacerbation of visual hallucinations in Charles Bonnet syndrome due to the social implications of COVID-19 Authors (4) Lee Jones Lara Ditzel-Finn Judith PottsMariya Moosajee BMJ Open Ophthalmology Published 11 February 2021 Crick labsMariya MoosajeeFull details
Ocular phenotype associated with DYRK1A variants Authors (4) Cécile Méjécase Christopher M Way Nicholas OwenMariya Moosajee Genes (Basel) Published 5 February 2021 Crick labsMariya MoosajeeFull details
A novel splice-site variant in CACNA1F causes a phenotype synonymous with Åland island eye disease and incomplete congenital stationary night blindness Authors (5) Usman Mahmood Cécile Méjécase Syed MA AliMariya Moosajee Igor Kozak Genes (Basel) Published 27 January 2021 Crick labsMariya MoosajeeFull details
Novel biallelic variants and phenotypic features in patients with SLC38A8-related foveal hypoplasia Authors (6) Elena R Schiff Vijay K Tailor Hwei Wuen Chan Maria Theodorou Andrew R WebsterMariya Moosajee International Journal of Molecular Sciences Published 24 January 2021 Crick labsMariya MoosajeeFull details
From transcriptomics to treatment in inherited optic neuropathies Authors (4) Michael James Gilhooley Nicholas OwenMariya Moosajee Patrick Yu Wai Man Genes Published 22 January 2021 Crick labsMariya MoosajeeFull details
