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

Article

Quinodoz, M., Rodenburg, K., Cvackova, Z. et al. (185 more authors) (2026) De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nature Genetics, 58. pp. 169-179. ISSN 1061-4036

Alayed, B., Siddiqui, S., Anand, S. et al. (3 more authors) (2025) Long-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy. Molecular Diagnosis & Therapy, 29 (6). pp. 801-812. ISSN 1177-1062

Chang, L. orcid.org/0009-0003-5223-7616, Poulter, J.A. orcid.org/0000-0003-2048-5693, Webster, A.R. et al. (6 more authors) (2025) RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa. European Journal of Human Genetics. ISSN 1018-4813

Rivolta, C., Celik, E., Kamdar, D. et al. (28 more authors) (2025) RetiGene, a comprehensive gene atlas for inherited retinal diseases. American Journal of Human Genetics, 112 (10). pp. 2253-2265. ISSN 0002-9297

Hany, U., Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (16 more authors) (2025) Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci. Human Mutation, 2025. 8942542. ISSN 1059-7794

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. orcid.org/0009-0008-3593-8409 et al. (16 more authors) (2025) Genetic Screening of a nonsyndromic amelogenesis imperfecta patient cohort using a custom smMIP reagent for selective enrichment of target loci. Human Mutation, 2025 (1). 8942542. ISSN 1059-7794

Panneman, D.M., Hitti-Malin, R.J., McKibbin, M. et al. (12 more authors) (2025) Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy. Investigative Ophthalmology & Visual Science, 66 (6). 19. ISSN 0146-0404

Moekotte, L., de Boer, J.H., Hiddingh, S. et al. (31 more authors) (2025) Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies. Investigative Ophthalmology & Visual Science, 66 (2). 55. ISSN 0146-0404

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

Hitti-Malin, R.J., Panneman, D.M., Corradi, Z. et al. (57 more authors) (2024) Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules, 14 (3). 367. ISSN 2218-273X

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

Yahya, S. orcid.org/0000-0002-3710-1011, Watson, C.M. orcid.org/0000-0003-2371-1844, Carr, I. orcid.org/0000-0001-9544-1068 et al. (9 more authors) (2023) Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells. Molecular Diagnosis & Therapy, 27 (4). pp. 525-535. ISSN 1177-1062

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

Conference abstract

Alayed, B., Watson, C.M., Anand, S. et al. (3 more authors) (2024) Using long-read Nanopore sequencing to study the genetic basis of Fuchs Endothelial Corneal Dystrophy. [Conference abstract]

Preprint

Liu, L., Au, C.W., Hany, U. orcid.org/0000-0002-4486-1625 et al. (10 more authors) (2026) ACP4 Variants In Hypoplastic Amelogenesis Imperfecta. [Preprint]