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Mohammed E. El-Asrag
Mohammed E. El-Asrag
Institute of Cancer and Genomic Science, University of Birmingham, UK; Benha University EGY
Geverifieerd e-mailadres voor bham.ac.uk
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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
502015
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
452015
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
422017
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
402016
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
292014
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
262018
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
232020
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
222019
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
222016
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
212015
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
172015
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
162022
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
142022
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
72023
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
62019
NB-RD for, UKIRD Consortium, 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, ...
Invest Ophthalmol Vis Sci 58, 2906-2914, 2017
52017
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
42022
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
32023
Meta‐analysis of the demographic and prognostic significance of gastrointestinal symptoms in COVID‐19 patients
S Zaman, S Hajibandeh, S Hajibandeh, AYY Mohamedahmed, ...
JGH Open 6 (10), 711-722, 2022
32022
A recessively inherited risk locus on chromosome 13q22-31 conferring susceptibility to schizophrenia
T Mahmood, ME El-Asrag, JA Poulter, AG Cardno, A Tomlinson, S Ahmed, ...
Schizophrenia Bulletin 47 (3), 796-802, 2021
32021
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Artikelen 1–20