Research case studies Explore a selection of reports that spotlight particular areas of research at the Crick over the past five years.
Postdoctoral clinical fellows Opportunities for postdoctoral clinicians to consolidate their research experience.
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 (48)Pre-Crick publications (75) Facet Crick/Pre-Crick Publications Displaying 61 - 80 of 123Last updated : 29 March 2024 02:16 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 HardingHajrah Sarkar Jonathan Eintracht Dulce Lima CunhaLyes ToualbiMariya Moosajee Stem Cell Research Published 1 December 2020 Crick labsMariya MoosajeeFull details USH2A-retinopathy: From genetics to therapeutics Authors (3)Lyes Toualbi Maria TomsMariya Moosajee Experimental Eye Research Published 1 December 2020 Crick labsMariya MoosajeeFull details PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism Authors (6) Dulce Lima CunhaNicholas Owen Vijay Tailor Marta Corton Maria TheodorouMariya Moosajee European Journal of Human Genetics Published 1 February 2021 Crick labsMariya MoosajeeFull details Practical guide to genetic screening for inherited eye diseases Authors (6)Cecile Mejecase Samantha Malka Zeyu Guan Amy Slater Gavin ArnoMariya Moosajee Therapeutic Advances in Ophthalmology Published 22 September 2020 Crick labsMariya MoosajeeFull details Usher syndrome: clinical features, molecular genetics and advancing therapeutics Authors (3) Maria Toms Waheeda PagarkarMariya Moosajee Therapeutic Advances in Ophthalmology Published 17 September 2020 Crick labsMariya MoosajeeFull details Visual hallucinations and sight loss in children and young adults: a retrospective case series of Charles Bonnet syndrome Authors (2) Lee JonesMariya Moosajee British Journal of Ophthalmology Published 21 October 2021 Crick labsMariya MoosajeeFull 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 DunbarMariya Moosajee American Journal of Medical Genetics Part C: Seminars in Medical Genetics Published 1 September 2020 Crick labsMariya MoosajeeFull details The use of induced pluripotent stem cells as a model for developmental eye disorders Authors (3) Jonathan Eintracht Maria TomsMariya Moosajee Frontiers in Cellular Neuroscience Published 20 August 2020 Crick labsMariya MoosajeeFull details The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates Authors (3)Cecile Mejecase Igor KozakMariya Moosajee American Journal of Medical Genetics Part C: Seminars in Medical Genetics Published 1 September 2020 Crick labsMariya MoosajeeFull details Congenital cataract: a guide to genetic and clinical management Authors (4) SJ Bell N Oluonye P HardingMariya Moosajee Therapeutic Advances in Rare Disease Published 1 January 2020 Crick labsMariya MoosajeeFull details Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis Authors (57) Eszter Balogh Jennifer C Chandler Máté Varga Mona Tahoun Dóra K Menyhárd Gusztáv Schay[...] David A Long Kazunori Tomita Corinne Antignac Aoife M Waters Kálmán Tory Proceedings of the National Academy of Sciences of USA Published 30 June 2020 Crick labsMariya MoosajeeVeronica KinslerFull details Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants Authors (11) Eleanor Hay Robert H Henderson Sahar Mansour Charu Deshpande Rachel Jones Savita Nutan Kshitij Mankad Rodrigo M YoungMariya Moosajee Genomics England Research Consortium Gavin Arno Clinical Genetics Published 1 August 2020 Crick labsMariya MoosajeeFull details Translational readthrough inducing drugs for the treatment of inherited retinal dystrophies Authors (3) Christopher M Way Dulce Lima CunhaMariya Moosajee Expert Review of Ophthalmology Published 8 June 2020 Crick labsMariya MoosajeeFull details Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches Authors (7) Ahmed M Hagag Andreas Mitsios Akshay Narayan Alessandro Abbouda Andrew R Webster Adam M DubisMariya Moosajee Eye Published 1 March 2021 Crick labsMariya MoosajeeFull details Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom Authors (18) Nikolas Pontikos Gavin Arno Neringa Jurkute Elena Schiff Rola Ba-Abbad Samantha Malka[...] Patrick Yu-Wai-Man Anthony T Moore Michel Michaelides Andrew R Webster Omar A Mahroo Ophthalmology Published 1 October 2020 Crick labsMariya MoosajeeFull details Novel heterozygous deletion in retinol dehydrogenase 12 (RDH12) causes familial autosomal dominant retinitis pigmentosa Authors (4) Hajrah Sarkar Adam M Dubis Susan DownesMariya Moosajee Frontiers in Genetics Published 8 April 2020 Crick labsMariya MoosajeeFull details Clinical and preclinical therapeutic outcome metrics for USH2A-related disease Authors (14) Maria Toms Adam M Dubis Erik de Vrieze Dhani Tracey-White Andreas Mitsios Matthew Hayes[...] Doris Bamiou Maria Bitner-Glindzicz Andrew R Webster Erwin Van WijkMariya Moosajee Human Molecular Genetics Published 1 June 2020 Crick labsMariya MoosajeeFull details CUGC for syndromic microphthalmia including next-generation sequencing-based approaches Authors (4) Jonathan Eintracht Marta Corton David FitzPatrickMariya Moosajee European Journal of Human Genetics Published 1 May 2020 Crick labsMariya MoosajeeFull details Think sight loss, think Charles Bonnet syndrome Authors (5) Joanne Best Pui Y Liu Dominic Ffytche Judith PottsMariya Moosajee Therapeutic Advances in Ophthalmology Published 20 December 2019 Crick labsMariya MoosajeeFull details The spectrum of PAX6 mutations and genotype-phenotype correlations in the eye Authors (4) Dulce Lima Cunha Gavin Arno Marta CortonMariya Moosajee Genes Published 17 December 2019 Crick labsMariya MoosajeeFull details Pagination First page First Previous page Previous Page 1 Page 2 Page 3 Current page 4 Page 5 Page 6 Page 7 Next page Next Last page Last Share the page Share on Twitter Share on Facebook Share on LinkedIn Share on Email
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 HardingHajrah Sarkar Jonathan Eintracht Dulce Lima CunhaLyes ToualbiMariya Moosajee Stem Cell Research Published 1 December 2020 Crick labsMariya MoosajeeFull details
USH2A-retinopathy: From genetics to therapeutics Authors (3)Lyes Toualbi Maria TomsMariya Moosajee Experimental Eye Research Published 1 December 2020 Crick labsMariya MoosajeeFull details
PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism Authors (6) Dulce Lima CunhaNicholas Owen Vijay Tailor Marta Corton Maria TheodorouMariya Moosajee European Journal of Human Genetics Published 1 February 2021 Crick labsMariya MoosajeeFull details
Practical guide to genetic screening for inherited eye diseases Authors (6)Cecile Mejecase Samantha Malka Zeyu Guan Amy Slater Gavin ArnoMariya Moosajee Therapeutic Advances in Ophthalmology Published 22 September 2020 Crick labsMariya MoosajeeFull details
Usher syndrome: clinical features, molecular genetics and advancing therapeutics Authors (3) Maria Toms Waheeda PagarkarMariya Moosajee Therapeutic Advances in Ophthalmology Published 17 September 2020 Crick labsMariya MoosajeeFull details
Visual hallucinations and sight loss in children and young adults: a retrospective case series of Charles Bonnet syndrome Authors (2) Lee JonesMariya Moosajee British Journal of Ophthalmology Published 21 October 2021 Crick labsMariya MoosajeeFull 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 DunbarMariya Moosajee American Journal of Medical Genetics Part C: Seminars in Medical Genetics Published 1 September 2020 Crick labsMariya MoosajeeFull details
The use of induced pluripotent stem cells as a model for developmental eye disorders Authors (3) Jonathan Eintracht Maria TomsMariya Moosajee Frontiers in Cellular Neuroscience Published 20 August 2020 Crick labsMariya MoosajeeFull details
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates Authors (3)Cecile Mejecase Igor KozakMariya Moosajee American Journal of Medical Genetics Part C: Seminars in Medical Genetics Published 1 September 2020 Crick labsMariya MoosajeeFull details
Congenital cataract: a guide to genetic and clinical management Authors (4) SJ Bell N Oluonye P HardingMariya Moosajee Therapeutic Advances in Rare Disease Published 1 January 2020 Crick labsMariya MoosajeeFull details
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis Authors (57) Eszter Balogh Jennifer C Chandler Máté Varga Mona Tahoun Dóra K Menyhárd Gusztáv Schay[...] David A Long Kazunori Tomita Corinne Antignac Aoife M Waters Kálmán Tory Proceedings of the National Academy of Sciences of USA Published 30 June 2020 Crick labsMariya MoosajeeVeronica KinslerFull details
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants Authors (11) Eleanor Hay Robert H Henderson Sahar Mansour Charu Deshpande Rachel Jones Savita Nutan Kshitij Mankad Rodrigo M YoungMariya Moosajee Genomics England Research Consortium Gavin Arno Clinical Genetics Published 1 August 2020 Crick labsMariya MoosajeeFull details
Translational readthrough inducing drugs for the treatment of inherited retinal dystrophies Authors (3) Christopher M Way Dulce Lima CunhaMariya Moosajee Expert Review of Ophthalmology Published 8 June 2020 Crick labsMariya MoosajeeFull details
Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches Authors (7) Ahmed M Hagag Andreas Mitsios Akshay Narayan Alessandro Abbouda Andrew R Webster Adam M DubisMariya Moosajee Eye Published 1 March 2021 Crick labsMariya MoosajeeFull details
Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom Authors (18) Nikolas Pontikos Gavin Arno Neringa Jurkute Elena Schiff Rola Ba-Abbad Samantha Malka[...] Patrick Yu-Wai-Man Anthony T Moore Michel Michaelides Andrew R Webster Omar A Mahroo Ophthalmology Published 1 October 2020 Crick labsMariya MoosajeeFull details
Novel heterozygous deletion in retinol dehydrogenase 12 (RDH12) causes familial autosomal dominant retinitis pigmentosa Authors (4) Hajrah Sarkar Adam M Dubis Susan DownesMariya Moosajee Frontiers in Genetics Published 8 April 2020 Crick labsMariya MoosajeeFull details
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease Authors (14) Maria Toms Adam M Dubis Erik de Vrieze Dhani Tracey-White Andreas Mitsios Matthew Hayes[...] Doris Bamiou Maria Bitner-Glindzicz Andrew R Webster Erwin Van WijkMariya Moosajee Human Molecular Genetics Published 1 June 2020 Crick labsMariya MoosajeeFull details
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches Authors (4) Jonathan Eintracht Marta Corton David FitzPatrickMariya Moosajee European Journal of Human Genetics Published 1 May 2020 Crick labsMariya MoosajeeFull details
Think sight loss, think Charles Bonnet syndrome Authors (5) Joanne Best Pui Y Liu Dominic Ffytche Judith PottsMariya Moosajee Therapeutic Advances in Ophthalmology Published 20 December 2019 Crick labsMariya MoosajeeFull details
The spectrum of PAX6 mutations and genotype-phenotype correlations in the eye Authors (4) Dulce Lima Cunha Gavin Arno Marta CortonMariya Moosajee Genes Published 17 December 2019 Crick labsMariya MoosajeeFull details