Pagnamenta A - Search Results

1

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.

Rosmarin D, Palles C, Pagnamenta A, Kaur K, Pita G, Martin M, Domingo E, Jones A, Howarth K, Freeman-Mills L, Johnstone E, Wang H, Love S, Scudder C, Julier P, Fernández-Rozadilla C, Ruiz-Ponte C, Carracedo A, Castellvi-Bel S, Castells A, Gonzalez-Neira A, Taylor J, Kerr R, Kerr D, Tomlinson I. Rosmarin D, et al. Among authors: pagnamenta a. Gut. 2015 Jan;64(1):111-20. doi: 10.1136/gutjnl-2013-306571. Epub 2014 Mar 19. Gut. 2015. PMID: 24647007 Free PMC article.

2

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

Pagnamenta AT, Murray JE, Yoon G, Sadighi Akha E, Harrison V, Bicknell LS, Ajilogba K, Stewart H, Kini U, Taylor JC, Keays DA, Jackson AP, Knight SJ. Pagnamenta AT, et al. Am J Med Genet A. 2012 Oct;158A(10):2577-82. doi: 10.1002/ajmg.a.35558. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887808 Free PMC article.

3

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Pagnamenta AT, Howard MF, Knight SJ, Keays DA, Quaghebeur G, Taylor JC, Kini U. Pagnamenta AT, et al. Clin Case Rep. 2016 Aug 23;4(10):952-956. doi: 10.1002/ccr3.663. eCollection 2016 Oct. Clin Case Rep. 2016. PMID: 27761245 Free PMC article.

4

Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.

Shields AM, Pagnamenta AT, Pollard AJ; OxClinWGS; Taylor JC, Allroggen H, Patel SY. Shields AM, et al. Front Immunol. 2019 Jun 7;10:1150. doi: 10.3389/fimmu.2019.01150. eCollection 2019. Front Immunol. 2019. PMID: 31231365 Free PMC article.

5

MichelaNglo: sculpting protein views on web pages without coding.

Ferla MP, Pagnamenta AT, Damerell D, Taylor JC, Marsden BD. Ferla MP, et al. Bioinformatics. 2020 May 1;36(10):3268-3270. doi: 10.1093/bioinformatics/btaa104. Bioinformatics. 2020. PMID: 32061125 Free PMC article.

6

Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.

Ferla MP, Pagnamenta AT, Koukouflis L, Taylor JC, Marsden BD. Ferla MP, et al. J Mol Biol. 2022 Jun 15;434(11):167567. doi: 10.1016/j.jmb.2022.167567. Epub 2022 Mar 29. J Mol Biol. 2022. PMID: 35662467 Free PMC article.

7

Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.

Hashim M, Stewart H, Yu J, Banos-Pinero B; Genomics England Research Consortium; Pagnamenta AT, Taylor JC. Hashim M, et al. Clin Genet. 2023 Sep;104(3):390-392. doi: 10.1111/cge.14355. Epub 2023 May 8. Clin Genet. 2023. PMID: 37157895 Free PMC article.

8

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. 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

9

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.

Sharma VP, Fenwick AL, Brockop MS, McGowan SJ, Goos JA, Hoogeboom AJ, Brady AF, Jeelani NO, Lynch SA, Mulliken JB, Murray DJ, Phipps JM, Sweeney E, Tomkins SE, Wilson LC, Bennett S, Cornall RJ, Broxholme J, Kanapin A; 500 Whole-Genome Sequences (WGS500) Consortium; Johnson D, Wall SA, van der Spek PJ, Mathijssen IM, Maxson RE, Twigg SR, Wilkie AO. Sharma VP, et al. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27. Nat Genet. 2013. PMID: 23354436 Free PMC article.

10

Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden.

Cazier JB, Rao SR, McLean CM, Walker AK, Wright BJ, Jaeger EE, Kartsonaki C, Marsden L, Yau C, Camps C, Kaisaki P; Oxford-Illumina WGS500 Consortium; Taylor J, Catto JW, Tomlinson IP, Kiltie AE, Hamdy FC. Cazier JB, et al. Nat Commun. 2014 Apr 29;5:3756. doi: 10.1038/ncomms4756. Nat Commun. 2014. PMID: 24777035 Free PMC article.

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

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

209 results

Search Page