Items where authors include "Inglehearn, C"

Article

Best, S, Yu, J, Lord, J et al. (17 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59 (12). pp. 1151-1164. ISSN 0022-2593

Smith, C orcid.org/0000-0001-8320-5105, Whitehouse, L, Poulter, J orcid.org/0000-0003-2048-5693 et al. (8 more authors) (2020) A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. Human Molecular Genetics. ISSN 0964-6906

Fiorentino, A, Yu, J, Arno, G et al. (28 more authors) (2018) Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision, 24. pp. 603-612. ISSN 1090-0535

Astuti, G, van den Born, L, Khan, M et al. (14 more authors) (2018) Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. Genes, 9 (1). p. 21. ISSN 2073-4425

Mughal, S, Moghul, I, Yu, J et al. (28 more authors) (2017) Pheno4J: A gene to phenotype graph database. Bioinformatics, 33 (20). pp. 3317-3319. ISSN 1367-4803

Brookes, SJ orcid.org/0000-0002-9097-7311, Barron, MJ, Smith, CEL orcid.org/0000-0001-8320-5105 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

Xu, M, Xie, YA, Abouzeid, H et al. (64 more authors) (2017) Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics, 100 (4). pp. 592-604. ISSN 0002-9297

Butler, JM, Sharif, U, Ali, M et al. (6 more authors) (2015) A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease. Human Genetics, 134 (7). 705 - 715. ISSN 0340-6717

Jaureguiberry, G, De la Dure-Molla, M, Parry, D et al. (68 more authors) (2013) Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations. Nephron Physiology, 122 (1-2). pp. 1-6. ISSN 1660-8151

Carr, IM orcid.org/0000-0001-9544-1068, Diggle, CP, Khan, K et al. (8 more authors) (2012) Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype. PLoS One, 7 (8). ARTN e43466. ISSN 1552-4973