Items where authors include "El-Asrag, ME"

Article

Yahya, S, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2023) Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology, 130 (1). pp. 68-76. ISSN 0161-6420

Al-Amri, AH, Armstrong, P orcid.org/0000-0001-8735-3762, Amici, M et al. (22 more authors) (2022) PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice and Fruit Flies. Biological Psychiatry, 92 (4). pp. 323-334. ISSN 0006-3223

El-Asrag, ME, Corton, M, McKibbin, M et al. (7 more authors) (2022) Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa. Molecular Vision, 28. pp. 48-56. ISSN 1090-0535

Mahmood, T, El-Asrag, ME, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (19 more authors) (2020) A recessively inherited risk locus on chromosome 13q22-31 conferring susceptibility to schizophrenia. Schizophrenia Bulletin. ISSN 0586-7614

Al-Amri, AH, Al Saegh, A, Al-Mamari, W et al. (10 more authors) (2019) LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss. European Journal of Medical Genetics, 62 (12). 103592. ISSN 1769-7212

Abdelhamed, ZA, Abdelmottaleb, DI, El-Asrag, ME et al. (5 more authors) (2019) The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5. Scientific Reports, 9. 5446. ISSN 2045-2322

Khan, KN, El-Asrag, ME, Ku, CA et al. (18 more authors) (2017) Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Investigative Ophthalmology and Visual Science, 58 (7). pp. 2906-2914. ISSN 0146-0404

Sergouniotis, PI, Robson, AG, El-Asrag, ME et al. (7 more authors) (2017) Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype. Lancet, 389. p. 14. ISSN 0140-6736

Bedoni, N, Haer-Wigman, L, Vaclavik, V et al. (28 more authors) (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555. ISSN 0964-6906

Al-Amri, A, Saegh, AA, Al-Mamari, W et al. (6 more authors) (2016) Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. American Journal of Medical Genetics Part A, 170 (7). pp. 1826-1831. ISSN 1552-4825

Sergouniotis, PI, McKibbin, M, Robson, AG et al. (14 more authors) (2015) Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Investigative Ophthalmology & Visual Science, 56 (13). pp. 8083-8090. ISSN 0146-0404

El-Asrag, ME, Sergouniotis, PI, McKibbin, M et al. (16 more authors) (2015) Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. American Journal of Human Genetics, 96 (6). 948 - 954. ISSN 0002-9297