Lascelles C - Search Results

1

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT. Watson CM, et al. Among authors: lascelles c. BMC Med Genet. 2016 Jan 4;17:1. doi: 10.1186/s12881-015-0265-z. BMC Med Genet. 2016. PMID: 26729329 Free PMC article.

2

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A. Watson CM, et al. Among authors: lascelles c. J Med Genet. 2016 Apr;53(4):264-9. doi: 10.1136/jmedgenet-2015-103620. Epub 2016 Jan 5. J Med Genet. 2016. PMID: 26733463 Free PMC article.

3

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

Watson CM, Crinnion LA, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Bonthron DT, Sheridan E. Watson CM, et al. Among authors: lascelles c. PLoS One. 2016 Jun 7;11(6):e0157075. doi: 10.1371/journal.pone.0157075. eCollection 2016. PLoS One. 2016. PMID: 27272187 Free PMC article.

4

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SD, Bonthron DT, Carr IM. Watson CM, et al. Among authors: lascelles c. Hum Mutat. 2015 Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22. Hum Mutat. 2015. PMID: 26037133 Free PMC article.

5

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Antanaviciute A, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Carr IM. Antanaviciute A, et al. Among authors: lascelles c. Bioinformatics. 2015 Dec 1;31(23):3822-9. doi: 10.1093/bioinformatics/btv473. Epub 2015 Aug 12. Bioinformatics. 2015. PMID: 26272982 Free PMC article.

6

m6aViewer: software for the detection, analysis, and visualization of N⁶-methyladenosine peaks from m⁶A-seq/ME-RIP sequencing data.

Antanaviciute A, Baquero-Perez B, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Whitehouse A, Carr IM. Antanaviciute A, et al. Among authors: lascelles c. RNA. 2017 Oct;23(10):1493-1501. doi: 10.1261/rna.058206.116. Epub 2017 Jul 19. RNA. 2017. PMID: 28724534 Free PMC article.

7

Impaired neonatal hepatic ketogenesis.

Quant PA, Lascelles CV, New KJ, Patil KK, Azzouzi N, Eaton S, Elliott KR. Quant PA, et al. Among authors: lascelles cv. Biochem Soc Trans. 1998 May;26(2):125-30. doi: 10.1042/bst0260125. Biochem Soc Trans. 1998. PMID: 9649733 Review. No abstract available.

8

Flux control exerted by overt carnitine palmitoyltransferase over palmitoyl-CoA oxidation and ketogenesis is lower in suckling than in adult rats.

Krauss S, Lascelles CV, Zammit VA, Quant PA. Krauss S, et al. Among authors: lascelles cv. Biochem J. 1996 Oct 15;319 ( Pt 2)(Pt 2):427-33. doi: 10.1042/bj3190427. Biochem J. 1996. PMID: 8912677 Free PMC article.

9

Investigation of human hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase in postmortem or biopsy tissue.

Lascelles CV, Quant PA. Lascelles CV, et al. Clin Chim Acta. 1997 Apr 4;260(1):85-96. doi: 10.1016/s0009-8981(96)06507-2. Clin Chim Acta. 1997. PMID: 9101103 No abstract available.

10

A new mouse mutant, skijumper.

Hafezparast M, Ball S, Nicholson SJ, Witherden A, Arac D, Broadway N, Saggerson D, Cooper E, Naase M, Gokhale S, Quant P, Lascelles C, Nickols C, Baker CS, Peters J, Martin JE, Fisher EM. Hafezparast M, et al. Among authors: lascelles c. Mamm Genome. 2002 Jul;13(7):359-364. doi: 10.1007/pl00021068. Mamm Genome. 2002. PMID: 12152619

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