Items where authors include "Manson, F"

Article

Liu, J, Sadeh, TT, Lippiat, JD orcid.org/0000-0003-3748-7345 et al. (3 more authors) (2021) Small molecules restore the function of mutant CLC5 associated with Dent disease. Journal of Cellular and Molecular Medicine, 25 (2). pp. 1319-1322. ISSN 1582-1838

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

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

Lechner, J, Porter, LF, Rice, A et al. (10 more authors) (2014) Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. Human Molecular Genetics, 23 (20). 5527 - 5535. ISSN 0964-6906