Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ME El-Asrag, PI Sergouniotis, M McKibbin, V Plagnol, E Sheridan, ... The American Journal of Human Genetics 96 (6), 948-954, 2015 | 51 | 2015 |
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa E Shevach, M Ali, L Mizrahi-Meissonnier, M McKibbin, M El-Asrag, ... JAMA ophthalmology 133 (3), 312-318, 2015 | 49 | 2015 |
Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy KN Khan, ME El-Asrag, CA Ku, GE Holder, M McKibbin, G Arno, ... Investigative ophthalmology & visual science 58 (7), 2906-2914, 2017 | 47 | 2017 |
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility N Bedoni, L Haer-Wigman, V Vaclavik, VH Tran, P Farinelli, S Balzano, ... Human molecular genetics 25 (20), 4546-4555, 2016 | 42 | 2016 |
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing CM Watson, M El-Asrag, DA Parry, JE Morgan, CV Logan, IM Carr, ... PloS one 9 (8), e104281, 2014 | 29 | 2014 |
Identification of inherited retinal disease-associated genetic variants in 11 candidate genes GDN Astuti, LI van Den Born, MI Khan, CP Hamel, B Bocquet, G Manes, ... Genes 9 (1), 21, 2018 | 28 | 2018 |
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5 ZA Abdelhamed, DI Abdelmottaleb, ME El-Asrag, S Natarajan, G Wheway, ... Scientific reports 9 (1), 5446, 2019 | 25 | 2019 |
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family A Al‐Amri, AA Saegh, W Al‐Mamari, ME El‐Asrag, JL Ivorra, AG Cardno, ... American Journal of Medical Genetics Part A 170 (7), 1826-1831, 2016 | 25 | 2016 |
New missense variants in RELT causing hypomineralised amelogenesis imperfecta G Nikolopoulos, CEL Smith, SJ Brookes, ME El‐Asrag, CJ Brown, A Patel, ... Clinical Genetics 97 (5), 688-695, 2020 | 23 | 2020 |
PDZD8 disruption causes cognitive impairment in humans, mice, and fruit flies AH Al-Amri, P Armstrong, M Amici, C Ligneul, J Rouse, ME El-Asrag, ... Biological psychiatry 92 (4), 323-334, 2022 | 21 | 2022 |
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin Z Ravesh, ME El Asrag, N Weisschuh, M McKibbin, P Reuter, CM Watson, ... Molecular vision 21, 236, 2015 | 21 | 2015 |
Patient derived organoids confirm that PI3K/AKT signalling is an escape pathway for radioresistance and a target for therapy in rectal cancer K Wanigasooriya, JD Barros-Silva, L Tee, ME El-Asrag, A Stodolna, ... Frontiers in oncology 12, 920444, 2022 | 20 | 2022 |
Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene PI Sergouniotis, M McKibbin, AG Robson, HJ Bolz, E De Baere, PL Müller, ... Investigative ophthalmology & visual science 56 (13), 8083-8090, 2015 | 19 | 2015 |
Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene S Yahya, CEL Smith, JA Poulter, M McKibbin, G Arno, J Ellingford, ... Ophthalmology 130 (1), 68-76, 2023 | 9 | 2023 |
Derivation of a new model of lung adenocarcinoma using canine lung cancer organoids for translational research in pulmonary medicine Y Shiota, M Elbadawy, K Suzuki, R Tsunedomi, H Nagano, Y Ishihara, ... Biomedicine & Pharmacotherapy 165, 115079, 2023 | 6 | 2023 |
LHFPL5 mutation: a rare cause of non-syndromic autosomal recessive hearing loss AH Al-Amri, A Al Saegh, W Al-Mamari, ME El-Asrag, MN Al-Kindi, ... European journal of medical genetics 62 (12), 103592, 2019 | 6 | 2019 |
Faecal Microbiota Transplantation [FMT] in the Treatment of Chronic Refractory Pouchitis: A Systematic Review and Meta-analysis S Zaman, A Akingboye, AYY Mohamedahmed, E Peterknecht, ... Journal of Crohn's and Colitis 18 (1), 144-161, 2024 | 5 | 2024 |
Feasibility of mass cytometry proteomic characterisation of circulating tumour cells in head and neck squamous cell carcinoma for deep phenotyping K Payne, J Brooks, N Batis, N Khan, M El-Asrag, P Nankivell, H Mehanna, ... British Journal of Cancer 129 (10), 1590-1598, 2023 | 5 | 2023 |
The analysis of gut microbiota in patients with bile acid diarrhoea treated with colesevelam A Kumar, MN Quraishi, HO Al-Hassi, ME El-Asrag, JP Segal, M Jain, ... Frontiers in Microbiology 14, 1134105, 2023 | 5 | 2023 |
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa ME El-Asrag, M Corton, M McKibbin, A Avila-Fernandez, MD Mohamed, ... Molecular Vision 28, 48, 2022 | 5 | 2022 |