Knight SJL - Search Results

1

Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia.

Klintman J, Appleby N, Stamatopoulos B, Ridout K, Eyre TA, Robbe P, Pascua LL, Knight SJL, Dreau H, Cabes M, Popitsch N, Ehinger M, Martín-Subero JI, Campo E, Månsson R, Rossi D, Taylor JC, Vavoulis DV, Schuh A. Klintman J, et al. Among authors: knight sjl. Blood. 2021 May 20;137(20):2800-2816. doi: 10.1182/blood.2020005650. Blood. 2021. PMID: 33206936 Free PMC article. Clinical Trial.

2

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

3

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.

4

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.

Clifford R, Louis T, Robbe P, Ackroyd S, Burns A, Timbs AT, Wright Colopy G, Dreau H, Sigaux F, Judde JG, Rotger M, Telenti A, Lin YL, Pasero P, Maelfait J, Titsias M, Cohen DR, Henderson SJ, Ross MT, Bentley D, Hillmen P, Pettitt A, Rehwinkel J, Knight SJ, Taylor JC, Crow YJ, Benkirane M, Schuh A. Clifford R, et al. Blood. 2014 Feb 13;123(7):1021-31. doi: 10.1182/blood-2013-04-490847. Epub 2013 Dec 12. Blood. 2014. PMID: 24335234 Free PMC article.

5

Clinical application of targeted and genome-wide technologies: can we predict treatment responses in chronic lymphocytic leukemia?

Alsolami R, Knight SJ, Schuh A. Alsolami R, et al. Per Med. 2013 Jun 1;10(4):361-376. doi: 10.2217/pme.13.33. Per Med. 2013. PMID: 24611071 Free PMC article.

6

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT, Howard MF, Wisniewski E, Popitsch N, Knight SJ, Keays DA, Quaghebeur G, Cox H, Cox P, Balla T, Taylor JC, Kini U. Pagnamenta AT, et al. Hum Mol Genet. 2015 Jul 1;24(13):3732-41. doi: 10.1093/hmg/ddv117. Epub 2015 Apr 8. Hum Mol Genet. 2015. PMID: 25855803 Free PMC article.

7

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF. Ilkovski B, et al. Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20. Hum Mol Genet. 2015. PMID: 26293662 Free PMC article.

8

Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL.

Guièze R, Robbe P, Clifford R, de Guibert S, Pereira B, Timbs A, Dilhuydy MS, Cabes M, Ysebaert L, Burns A, Nguyen-Khac F, Davi F, Véronèse L, Combes P, Le Garff-Tavernier M, Leblond V, Merle-Béral H, Alsolami R, Hamblin A, Mason J, Pettitt A, Hillmen P, Taylor J, Knight SJ, Tournilhac O, Schuh A. Guièze R, et al. Blood. 2015 Oct 29;126(18):2110-7. doi: 10.1182/blood-2015-05-647578. Epub 2015 Aug 27. Blood. 2015. PMID: 26316624 Free article. Clinical Trial.

9

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U. Lange L, et al. Clin Genet. 2016 Sep;90(3):258-62. doi: 10.1111/cge.12773. Epub 2016 Apr 1. Clin Genet. 2016. PMID: 26954065 Free PMC article.

10

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.

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