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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med. 2024 May;26(5):101076. doi: 10.1016/j.gim.2024.101076. Epub 2024 Jan 19.
Genet Med. 2024.
PMID: 38258669
The landscape of genomic structural variation in Indigenous Australians.
Reis ALM, Rapadas M, Hammond JM, Gamaarachchi H, Stevanovski I, Ayuputeri Kumaheri M, Chintalaphani SR, Dissanayake DSB, Siggs OM, Hewitt AW, Llamas B, Brown A, Baynam G, Mann GJ, McMorran BJ, Easteal S, Hermes A, Jenkins MR; National Centre for Indigenous Genomics; Patel HR, Deveson IW.
Reis ALM, et al. Among authors: rapadas m.
Nature. 2023 Dec;624(7992):602-610. doi: 10.1038/s41586-023-06842-7. Epub 2023 Dec 13.
Nature. 2023.
PMID: 38093003
Free PMC article.
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NAD deficiency due to environmental factors or gene-environment interactions causes congenital malformations and miscarriage in mice.
Cuny H, Rapadas M, Gereis J, Martin EMMA, Kirk RB, Shi H, Dunwoodie SL.
Cuny H, et al. Among authors: rapadas m.
Proc Natl Acad Sci U S A. 2020 Feb 18;117(7):3738-3747. doi: 10.1073/pnas.1916588117. Epub 2020 Feb 3.
Proc Natl Acad Sci U S A. 2020.
PMID: 32015132
Free PMC article.
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NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL.
Shi H, et al. Among authors: rapadas m.
N Engl J Med. 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361.
N Engl J Med. 2017.
PMID: 28792876
Free article.
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