Items where authors include "Inglehearn, C.F."

Article

Basu, B. orcid.org/0000-0002-5434-5202, Karwatka, M. orcid.org/0000-0001-5375-4488, China, B. et al. (5 more authors) (2024) Glycogen myophosphorylase loss causes increased dependence on glucose in iPSC-derived retinal pigment epithelium. Journal of Biological Chemistry, 300 (8). 107569. ISSN 0021-9258

Atkinson, R., Georgiou, M., Yang, C. et al. (29 more authors) (2024) PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature Communications, 15 (1). 3138. ISSN 2041-1723

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2024) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics, 61 (4). pp. 347-355. ISSN 0022-2593

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2024) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics, 61 (4). pp. 347-355. ISSN 0022-2593

Smith, C.E.L. orcid.org/0000-0001-8320-5105, Laugel-Haushalter, V., Hany, U. orcid.org/0000-0002-4486-1625 et al. (15 more authors) (2024) Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of Medical Genetics. ISSN 0022-2593

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (11 more authors) (2024) Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (11 more authors) (2024) Novel ameloblastin variants, contrasting amelogenesis imperfecta phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

Mahmood, T., El-Asrag, M.E., Poulter, J.A. et al. (19 more authors) (2021) A recessively inherited risk locus on chromosome 13q22-31 conferring susceptibility to schizophrenia. Schizophrenia Bulletin, 47 (3). pp. 796-802. ISSN 0586-7614

Smith, C.E.L., Whitehouse, L.L.E., Poulter, J.A. et al. (8 more authors) (2020) A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. Human Molecular Genetics, 29 (9). pp. 1417-1425. ISSN 0964-6906

Brookes, S.J., Barron, M.J., Smith, C.E.L. et al. (7 more authors) (2017) Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. Human Molecular Genetics, 26 (10). pp. 1863-1876. ISSN 0964-6906

Ponchel, F., Toomes, C., Bransfield, K. et al. (11 more authors) (2003) Real-time PCR based on SYBR-Green I fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions. BMC Biotechnology, 3 (18). ISSN 1472-6750

Mohamed, M.D., Topping, N.C, Jafri, H. et al. (3 more authors) (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. British Journal of Ophthalmology, 87 (4). pp. 473-475. ISSN 0007-1161