Items where authors include "Black, G"

Article

Vig, A, Poulter, JA orcid.org/0000-0003-2048-5693, Ottaviani, D et al. (28 more authors) (2020) DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine, 22 (12). pp. 2041-2051. ISSN 1098-3600

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

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

Proceedings Paper

Trebble, P, Matthews, L, Blaikley, J et al. (4 more authors) (2010) Familial GC resistance: a novel, naturally occurring mutation which has dominant negative effects on ligand-dependent and -independent GR action. In: Endocrine Abstracts. Society for Endocrinology BES 2010, 15-18 Mar 2010, Manchester, UK. Bioscientifica .