Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292.
Brain. 2023.
PMID: 37647852
Free PMC article.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR.
Williamson KA, et al. Among authors: deng at.
Genet Med. 2020 Mar;22(3):598-609. doi: 10.1038/s41436-019-0685-9. Epub 2019 Nov 8.
Genet Med. 2020.
PMID: 31700164
Free PMC article.
Item in Clipboard
Capturing heart valve development with Gene Ontology.
Ahmed SH, Deng AT, Huntley RP, Campbell NH, Lovering RC.
Ahmed SH, et al. Among authors: deng at.
Front Genet. 2023 Oct 17;14:1251902. doi: 10.3389/fgene.2023.1251902. eCollection 2023.
Front Genet. 2023.
PMID: 37915827
Free PMC article.
Item in Clipboard
Foresight-a generative pretrained transformer for modelling of patient timelines using electronic health records: a retrospective modelling study.
Kraljevic Z, Bean D, Shek A, Bendayan R, Hemingway H, Yeung JA, Deng A, Baston A, Ross J, Idowu E, Teo JT, Dobson RJB.
Kraljevic Z, et al.
Lancet Digit Health. 2024 Apr;6(4):e281-e290. doi: 10.1016/S2589-7500(24)00025-6.
Lancet Digit Health. 2024.
PMID: 38519155
Free article.
Item in Clipboard
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Pagnamenta AT, Lise S, Harrison V, Stewart H, Jayawant S, Quaghebeur G, Deng AT, Murphy VE, Sadighi Akha E, Rimmer A, Mathieson I, Knight SJ, Kini U, Taylor JC, Keays DA.
Pagnamenta AT, et al. Among authors: deng at.
J Hum Genet. 2012 Jan;57(1):70-2. doi: 10.1038/jhg.2011.128. Epub 2011 Dec 1.
J Hum Genet. 2012.
PMID: 22129557
Item in Clipboard
Digital Fellowships: Inspiring use of contemporary technologies in applied healthcare.
Salisbury T, Deng AT, Burch E, Godfrey A.
Salisbury T, et al. Among authors: deng at.
NPJ Digit Med. 2023 Sep 26;6(1):178. doi: 10.1038/s41746-023-00922-8.
NPJ Digit Med. 2023.
PMID: 37752327
Free PMC article.
Item in Clipboard
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A.
Bernkopf M, et al. Among authors: deng at.
Nat Commun. 2023 Feb 15;14(1):853. doi: 10.1038/s41467-023-36606-w.
Nat Commun. 2023.
PMID: 36792598
Free PMC article.
Item in Clipboard
Cite
Cite