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Items: 25

1.

Phase I Trial of Inducible Caspase 9 T Cells in Adult Stem Cell Transplant Demonstrates Massive Clonotypic Proliferative Potential and Long-term Persistence of Transgenic T Cells.

Zhang P, Raju J, Ullah MA, Au R, Varelias A, Gartlan KH, Olver SD, Samson LD, Sturgeon E, Zomerdijk N, Avery J, Gargett T, Brown MP, Coin LJ, Ganesamoorthy D, Hutchins C, Pratt GR, Kennedy GA, Morton AJ, Curley CI, Hill GR, Tey SK.

Clin Cancer Res. 2019 Mar 15;25(6):1749-1755. doi: 10.1158/1078-0432.CCR-18-3069. Epub 2019 Feb 14.

PMID:
30765390
2.

Octapeptin C4 and polymyxin resistance occur via distinct pathways in an epidemic XDR Klebsiella pneumoniae ST258 isolate.

Pitt ME, Cao MD, Butler MS, Ramu S, Ganesamoorthy D, Blaskovich MAT, Coin LJM, Cooper MA.

J Antimicrob Chemother. 2019 Mar 1;74(3):582-593. doi: 10.1093/jac/dky458.

PMID:
30445429
3.

GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing.

Ganesamoorthy D, Cao MD, Duarte T, Chen W, Coin L.

BMC Bioinformatics. 2018 Jul 16;19(1):267. doi: 10.1186/s12859-018-2282-3.

4.

npInv: accurate detection and genotyping of inversions using long read sub-alignment.

Shao H, Ganesamoorthy D, Duarte T, Cao MD, Hoggart CJ, Coin LJM.

BMC Bioinformatics. 2018 Jul 13;19(1):261. doi: 10.1186/s12859-018-2252-9.

5.

Multifactorial chromosomal variants regulate polymyxin resistance in extensively drug-resistant Klebsiella pneumoniae.

Pitt ME, Elliott AG, Cao MD, Ganesamoorthy D, Karaiskos I, Giamarellou H, Abboud CS, Blaskovich MAT, Cooper MA, Coin LJM.

Microb Genom. 2018 Feb 12. doi: 10.1099/mgen.0.000158. [Epub ahead of print]

6.

Simulating the dynamics of targeted capture sequencing with CapSim.

Cao MD, Ganesamoorthy D, Zhou C, Coin LJM.

Bioinformatics. 2018 Mar 1;34(5):873-874. doi: 10.1093/bioinformatics/btx691.

7.

Scaffolding and completing genome assemblies in real-time with nanopore sequencing.

Cao MD, Nguyen SH, Ganesamoorthy D, Elliott AG, Cooper MA, Coin LJ.

Nat Commun. 2017 Feb 20;8:14515. doi: 10.1038/ncomms14515.

8.

sCNAphase: using haplotype resolved read depth to genotype somatic copy number alterations from low cellularity aneuploid tumors.

Chen W, Robertson AJ, Ganesamoorthy D, Coin LJM.

Nucleic Acids Res. 2017 Mar 17;45(5):e34. doi: 10.1093/nar/gkw1086.

9.

Streaming algorithms for identification of pathogens and antibiotic resistance potential from real-time MinION(TM) sequencing.

Cao MD, Ganesamoorthy D, Elliott AG, Zhang H, Cooper MA, Coin LJ.

Gigascience. 2016 Jul 26;5(1):32. doi: 10.1186/s13742-016-0137-2.

10.

Complete Genome Sequence of Klebsiella quasipneumoniae subsp. similipneumoniae Strain ATCC 700603.

Elliott AG, Ganesamoorthy D, Coin L, Cooper MA, Cao MD.

Genome Announc. 2016 May 26;4(3). pii: e00438-16. doi: 10.1128/genomeA.00438-16.

11.

Realtime analysis and visualization of MinION sequencing data with npReader.

Cao MD, Ganesamoorthy D, Cooper MA, Coin LJ.

Bioinformatics. 2016 Mar 1;32(5):764-6. doi: 10.1093/bioinformatics/btv658. Epub 2015 Nov 10.

12.

Use of copy number deletion polymorphisms to assess DNA chimerism.

Bruno DL, Ganesamoorthy D, Thorne NP, Ling L, Bahlo M, Forrest S, Veenendaal M, Katerelos M, Skene A, Ierino FL, Power DA, Slater HR.

Clin Chem. 2014 Aug;60(8):1105-14. doi: 10.1373/clinchem.2013.216077. Epub 2014 Jun 4.

13.

Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery.

Chandrananda D, Thorne NP, Ganesamoorthy D, Bruno DL, Benjamini Y, Speed TP, Slater HR, Bahlo M.

PLoS One. 2014 Jan 29;9(1):e86993. doi: 10.1371/journal.pone.0086993. eCollection 2014.

14.

High-resolution microarray in the assessment of fetal anomalies detected by ultrasound.

Charan P, Woodrow N, Walker SP, Ganesamoorthy D, McGillivray G, Palma-Dias R.

Aust N Z J Obstet Gynaecol. 2014 Feb;54(1):46-52. doi: 10.1111/ajo.12170.

PMID:
24471846
15.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Review.

PMID:
23533028
16.

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

Ganesamoorthy D, Bruno DL, McGillivray G, Norris F, White SM, Adroub S, Amor DJ, Yeung A, Oertel R, Pertile MD, Ngo C, Arvaj AR, Walker S, Charan P, Palma-Dias R, Woodrow N, Slater HR.

BJOG. 2013 Apr;120(5):594-606. doi: 10.1111/1471-0528.12150. Epub 2013 Jan 18.

17.

Application of a new molecular technique for the genetic evaluation of products of conception.

Grati FR, Gomes DM, Ganesamoorthy D, Marcato L, De Toffol S, Blondeel E, Malvestiti F, Loeuillet L, Ruggeri AM, Wainer R, Maggi F, Aboura A, Dupont C, Tabet AC, Guimiot F, Slater HR, Simoni G, Vialard F.

Prenat Diagn. 2013 Jan;33(1):32-41. doi: 10.1002/pd.4004. Epub 2012 Nov 20.

PMID:
23168908
18.

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.

Bruno DL, White SM, Ganesamoorthy D, Burgess T, Butler K, Corrie S, Francis D, Hills L, Prabhakara K, Ngo C, Norris F, Oertel R, Pertile MD, Stark Z, Amor DJ, Slater HR.

J Med Genet. 2011 Dec;48(12):831-9. doi: 10.1136/jmedgenet-2011-100372. Epub 2011 Oct 29.

PMID:
22039585
19.

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

Bruno DL, Stark Z, Amor DJ, Burgess T, Butler K, Corrie S, Francis D, Ganesamoorthy D, Hills L, James PA, O'Rielly D, Oertel R, Savarirayan R, Prabhakara K, Salce N, Slater HR.

Hum Mutat. 2011 Dec;32(12):1500-6. doi: 10.1002/humu.21581. Epub 2011 Sep 19.

PMID:
21850686
20.

Phenotypic variability of distal 22q11.2 copy number abnormalities.

Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ.

Am J Med Genet A. 2011 Jul;155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10.

PMID:
21671380
21.

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.

Traylor RN, Bruno DL, Burgess T, Wildin R, Spencer A, Ganesamoorthy D, Amor DJ, Hunter M, Caplan M, Rosenfeld JA, Theisen A, Torchia BS, Shaffer LG, Ballif BC, Slater HR.

PLoS One. 2010 Aug 27;5(8):e12462. doi: 10.1371/journal.pone.0012462.

22.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.

J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906.

PMID:
20452996
23.

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Godler DE, Tassone F, Loesch DZ, Taylor AK, Gehling F, Hagerman RJ, Burgess T, Ganesamoorthy D, Hennerich D, Gordon L, Evans A, Choo KH, Slater HR.

Hum Mol Genet. 2010 Apr 15;19(8):1618-32. doi: 10.1093/hmg/ddq037. Epub 2010 Jan 29.

24.

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

Ganesamoorthy D, Bruno DL, Schoumans J, Storey E, Delatycki MB, Zhu D, Wei MK, Nicholson GA, McKinlay Gardner RJ, Slater HR.

Clin Chem. 2009 Jul;55(7):1415-8. doi: 10.1373/clinchem.2009.124958. Epub 2009 May 7.

25.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR.

J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17.

PMID:
19015223

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