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Items: 1 to 20 of 119

1.

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

Nguyen-Dumont T, Teo ZL, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Sabbaghian N, Tischkowitz M, Foulkes WD; Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab), Giles GG, Hopper JL; Australian Breast Cancer Family Registry, Southey MC, Park DJ.

BMC Med Genomics. 2013 Nov 8;6:48. doi: 10.1186/1755-8794-6-48.

2.

Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing.

Nguyen-Dumont T, Pope BJ, Hammet F, Mahmoodi M, Tsimiklis H, Southey MC, Park DJ.

Anal Biochem. 2013 Nov 15;442(2):127-9. doi: 10.1016/j.ab.2013.07.046. Epub 2013 Aug 8.

3.

Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots.

Nguyen-Dumont T, Mahmoodi M, Hammet F, Tran T, Tsimiklis H; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Giles GG, Hopper JL; Australian Breast Cancer Family Registry, Southey MC, Park DJ.

Anal Biochem. 2015 Feb 1;470:48-51. doi: 10.1016/j.ab.2014.10.010. Epub 2014 Oct 30.

4.

A high-plex PCR approach for massively parallel sequencing.

Nguyen-Dumont T, Pope BJ, Hammet F, Southey MC, Park DJ.

Biotechniques. 2013 Aug;55(2):69-74. doi: 10.2144/000114052.

5.

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

Nguyen-Dumont T, Hammet F, Mahmoodi M, Tsimiklis H, Teo ZL, Li R, Pope BJ, Terry MB, Buys SS, Daly M, Hopper JL, Winship I, Goldgar DE, Park DJ, Southey MC.

Breast Cancer Res Treat. 2015 Jan;149(2):547-54. doi: 10.1007/s10549-014-3260-8. Epub 2015 Jan 10.

6.

Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL.

Breast Cancer Res. 2011 Feb 28;13(1):R20. doi: 10.1186/bcr2832.

7.

Abridged adapter primers increase the target scope of Hi-Plex.

Nguyen-Dumont T, Hammet F, Mahmoodi M, Pope BJ, Giles GG, Hopper JL, Southey MC, Park DJ.

Biotechniques. 2015 Jan 1;58(1):33-6. doi: 10.2144/000114247. eCollection 2015 Jan.

8.

Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing.

Wong SQ, Li J, Tan AY, Vedururu R, Pang JM, Do H, Ellul J, Doig K, Bell A, MacArthur GA, Fox SB, Thomas DM, Fellowes A, Parisot JP, Dobrovic A; CANCER 2015 Cohort.

BMC Med Genomics. 2014 May 13;7:23. doi: 10.1186/1755-8794-7-23.

9.

High-resolution melting curve analysis for rapid detection of mutations in a Medaka TILLING library.

Ishikawa T, Kamei Y, Otozai S, Kim J, Sato A, Kuwahara Y, Tanaka M, Deguchi T, Inohara H, Tsujimura T, Todo T.

BMC Mol Biol. 2010 Sep 15;11:70. doi: 10.1186/1471-2199-11-70.

10.

Validation of a next-generation-sequencing cancer panel for use in the clinical laboratory.

Simen BB, Yin L, Goswami CP, Davis KO, Bajaj R, Gong JZ, Peiper SC, Johnson ES, Wang ZX.

Arch Pathol Lab Med. 2015 Apr;139(4):508-17. doi: 10.5858/arpa.2013-0710-OA. Epub 2014 Oct 30.

PMID:
25356985
11.

Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform.

Chan M, Ji SM, Yeo ZX, Gan L, Yap E, Yap YS, Ng R, Tan PH, Ho GH, Ang P, Lee AS.

J Mol Diagn. 2012 Nov;14(6):602-12. doi: 10.1016/j.jmoldx.2012.06.003. Epub 2012 Aug 22.

PMID:
22921312
12.

Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families.

Haanpää M, Pylkäs K, Moilanen JS, Winqvist R.

BMC Med Genet. 2013 Aug 13;14:82. doi: 10.1186/1471-2350-14-82.

13.

Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.

García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J.

Breast Cancer Res Treat. 2009 Feb;113(3):545-51. doi: 10.1007/s10549-008-9945-0. Epub 2008 Feb 27.

PMID:
18302019
14.

Molecular diagnostic profiling of lung cancer specimens with a semiconductor-based massive parallel sequencing approach: feasibility, costs, and performance compared with conventional sequencing.

Endris V, Penzel R, Warth A, Muckenhuber A, Schirmacher P, Stenzinger A, Weichert W.

J Mol Diagn. 2013 Nov;15(6):765-75. doi: 10.1016/j.jmoldx.2013.06.002. Epub 2013 Aug 21.

PMID:
23973117
15.

A recurrent mutation in PALB2 in Finnish cancer families.

Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R.

Nature. 2007 Mar 15;446(7133):316-9. Epub 2007 Feb 7.

PMID:
17287723
16.

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.

Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Sabbaghian N, Darnel A, Royer R, Poll A, Fafard E, Robidoux A, Martin G, Bismar TA, Tischkowitz M, Rousseau F, Narod SA.

Breast Cancer Res. 2007;9(6):R83.

17.

Germline PALB2 mutation analysis in breast-pancreas cancer families.

Stadler ZK, Salo-Mullen E, Sabbaghian N, Simon JA, Zhang L, Olson SH, Kurtz R, Offit K, Foulkes WD, Robson ME, Tischkowitz M.

J Med Genet. 2011 Aug;48(8):523-5. doi: 10.1136/jmg.2010.087379. Epub 2011 Mar 17.

PMID:
21415078
18.

Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.

Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P.

Fam Cancer. 2012 Sep;11(3):483-91. doi: 10.1007/s10689-012-9540-8.

PMID:
22692731
19.

Next-generation sequencing-based multigene mutational screening for acute myeloid leukemia using MiSeq: applicability for diagnostics and disease monitoring.

Luthra R, Patel KP, Reddy NG, Haghshenas V, Routbort MJ, Harmon MA, Barkoh BA, Kanagal-Shamanna R, Ravandi F, Cortes JE, Kantarjian HM, Medeiros LJ, Singh RR.

Haematologica. 2014 Mar;99(3):465-73. doi: 10.3324/haematol.2013.093765. Epub 2013 Oct 18.

20.

Evaluation of two highly-multiplexed custom panels for massively parallel semiconductor sequencing on paraffin DNA.

Kotoula V, Lyberopoulou A, Papadopoulou K, Charalambous E, Alexopoulou Z, Gakou C, Lakis S, Tsolaki E, Lilakos K, Fountzilas G.

PLoS One. 2015 Jun 3;10(6):e0128818. doi: 10.1371/journal.pone.0128818. eCollection 2015.

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