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Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ. Cheong SS, et al. Among authors: rizzo r. Am J Hum Genet. 2016 Dec 1;99(6):1338-1352. doi: 10.1016/j.ajhg.2016.09.022. Epub 2016 Nov 10. Am J Hum Genet. 2016. PMID: 27839872 Free PMC article.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Among authors: rizzo r. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
The genetic counsellor role in the United Kingdom : Position on behalf of the Association of Genetic Nurses and Counsellors (AGNC), Endorsed by the Genetic Counsellor Registration Board (GCRB) and Academy for Healthcare Science (AHCS).
Middleton A, Taverner N, Moreton N, Rizzo R, Houghton C, Watt C, Horton E, Levene S, Leonard P, Melville A, Ellis S, Tripathi V, Patch C, Jenkins E. Middleton A, et al. Among authors: rizzo r. Eur J Hum Genet. 2023 Jan;31(1):13-15. doi: 10.1038/s41431-022-01212-9. Epub 2022 Nov 1. Eur J Hum Genet. 2023. PMID: 36316491 Free PMC article. No abstract available.
876 results