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Items: 1 to 50 of 57

1.

Clinical and genetic analysis of a rare syndrome associated with neoteny.

Walker RF, Ciotlos S, Mao Q, Chin R, Drmanac S, Barua N, Agarwal MR, Zhang RY, Li Z, Wu MKY, Sun K, Lee K, Nguyen S, Liu JS, Carnevali P, Drmanac R, Peters BA.

Genet Med. 2018 Apr;20(5):495-502. doi: 10.1038/gim.2017.140. Epub 2017 Sep 21.

PMID:
29758565
2.

Advanced Whole-Genome Sequencing and Analysis of Fetal Genomes from Amniotic Fluid.

Mao Q, Chin R, Xie W, Deng Y, Zhang W, Xu H, Zhang RY, Shi Q, Peters EE, Gulbahce N, Li Z, Chen F, Drmanac R, Peters BA.

Clin Chem. 2018 Apr;64(4):715-725. doi: 10.1373/clinchem.2017.281220. Epub 2018 Mar 15.

PMID:
29545257
3.

Assessment of the cPAS-based BGISEQ-500 platform for metagenomic sequencing.

Fang C, Zhong H, Lin Y, Chen B, Han M, Ren H, Lu H, Luber JM, Xia M, Li W, Stein S, Xu X, Zhang W, Drmanac R, Wang J, Yang H, Hammarström L, Kostic AD, Kristiansen K, Li J.

Gigascience. 2018 Mar 1;7(3):1-8. doi: 10.1093/gigascience/gix133.

4.

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.

Mitropoulos K, Merkouri Papadima E, Xiromerisiou G, Balasopoulou A, Charalampidou K, Galani V, Zafeiri KV, Dardiotis E, Ralli S, Deretzi G, John A, Kydonopoulou K, Papadopoulou E, di Pardo A, Akcimen F, Loizedda A, Dobričić V, Novaković I, Kostić VS, Mizzi C, Peters BA, Basak N, Orrù S, Kiskinis E, Cooper DN, Gerou S, Drmanac R, Bartsakoulia M, Tsermpini EE, Hadjigeorgiou GM, Ali BR, Katsila T, Patrinos GP.

Hum Genomics. 2017 Dec 8;11(1):30. doi: 10.1186/s40246-017-0126-2.

5.

Isolation and whole genome sequencing of fetal cells from maternal blood towards the ultimate non-invasive prenatal testing.

Chen F, Liu P, Gu Y, Zhu Z, Nanisetti A, Lan Z, Huang Z, Liu JS, Kang X, Deng Y, Luo L, Jiang D, Qiu Y, Pan J, Xia J, Xiong K, Liu C, Xie L, Shi Q, Li J, Zhang X, Wang W, Drmanac S, Bolund L, Jiang H, Drmanac R, Xu X.

Prenat Diagn. 2017 Dec;37(13):1311-1321. doi: 10.1002/pd.5186.

PMID:
29144536
6.

Pure CTCs, advanced WGS, and precise personalized combination therapies.

Peters BA, Park JW, Drmanac R.

Oncoscience. 2017 Sep 21;4(7-8):75-76. doi: 10.18632/oncoscience.362. eCollection 2017 Jul. No abstract available.

7.

Quantitative Whole Genome Sequencing of Circulating Tumor Cells Enables Personalized Combination Therapy of Metastatic Cancer.

Gulbahce N, Magbanua MJM, Chin R, Agarwal MR, Luo X, Liu J, Hayden DM, Mao Q, Ciotlos S, Li Z, Chen Y, Chen X, Li Y, Zhang RY, Lee K, Tearle R, Park E, Drmanac S, Rugo HS, Park JW, Drmanac R, Peters BA.

Cancer Res. 2017 Aug 15;77(16):4530-4541. doi: 10.1158/0008-5472.CAN-17-0688.

8.

Long Fragment Read (LFR) Technology: Cost-Effective, High-Quality Genome-Wide Molecular Haplotyping.

McElwain MA, Zhang RY, Drmanac R, Peters BA.

Methods Mol Biol. 2017;1551:191-205. doi: 10.1007/978-1-4939-6750-6_11.

PMID:
28138848
9.

cPAS-based sequencing on the BGISEQ-500 to explore small non-coding RNAs.

Fehlmann T, Reinheimer S, Geng C, Su X, Drmanac S, Alexeev A, Zhang C, Backes C, Ludwig N, Hart M, An D, Zhu Z, Xu C, Chen A, Ni M, Liu J, Li Y, Poulter M, Li Y, Stähler C, Drmanac R, Xu X, Meese E, Keller A.

Clin Epigenetics. 2016 Nov 21;8:123. eCollection 2016.

10.

Novel genetic risk variants for pediatric celiac disease.

Balasopoulou A, Stanković B, Panagiotara A, Nikčevic G, Peters BA, John A, Mendrinou E, Stratopoulos A, Legaki AI, Stathakopoulou V, Tsolia A, Govaris N, Govari S, Zagoriti Z, Poulas K, Kanariou M, Constantinidou N, Krini M, Spanou K, Radlovic N, Ali BR, Borg J, Drmanac R, Chrousos G, Pavlovic S, Roma E, Zukic B, Patrinos GP, Katsila T.

Hum Genomics. 2016 Oct 24;10(1):34.

11.

The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes.

Mao Q, Ciotlos S, Zhang RY, Ball MP, Chin R, Carnevali P, Barua N, Nguyen S, Agarwal MR, Clegg T, Connelly A, Vandewege W, Zaranek AW, Estep PW, Church GM, Drmanac R, Peters BA.

Gigascience. 2016 Oct 11;5(1):42.

12.

Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies.

Hellner K, Miranda F, Fotso Chedom D, Herrero-Gonzalez S, Hayden DM, Tearle R, Artibani M, KaramiNejadRanjbar M, Williams R, Gaitskell K, Elorbany S, Xu R, Laios A, Buiga P, Ahmed K, Dhar S, Zhang RY, Campo L, Myers KA, Lozano M, Ruiz-Miró M, Gatius S, Mota A, Moreno-Bueno G, Matias-Guiu X, Benítez J, Witty L, McVean G, Leedham S, Tomlinson I, Drmanac R, Cazier JB, Klein R, Dunne K, Bast RC Jr, Kennedy SH, Hassan B, Lise S, Garcia MJ, Peters BA, Yau C, Sauka-Spengler T, Ahmed AA.

EBioMedicine. 2016 Aug;10:137-49. doi: 10.1016/j.ebiom.2016.06.048. Epub 2016 Jul 2.

13.

Whole genome sequence analysis of BT-474 using complete Genomics' standard and long fragment read technologies.

Ciotlos S, Mao Q, Zhang RY, Li Z, Chin R, Gulbahce N, Liu SJ, Drmanac R, Peters BA.

Gigascience. 2016 Feb 9;5:8. doi: 10.1186/s13742-016-0113-x. eCollection 2016.

14.

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I, Mizzi C, Giannopoulou E, Pavlidis C, Peters BA, Zagoriti Z, Stenson PD, Mitropoulos K, Borg J, Kalofonos HP, Drmanac R, Stubbs A, van der Spek P, Cooper DN, Katsila T, Patrinos GP.

Hum Genomics. 2015 Jun 20;9:12. doi: 10.1186/s40246-015-0034-2.

15.

De novo assembly of a haplotype-resolved human genome.

Cao H, Wu H, Luo R, Huang S, Sun Y, Tong X, Xie Y, Liu B, Yang H, Zheng H, Li J, Li B, Wang Y, Yang F, Sun P, Liu S, Gao P, Huang H, Sun J, Chen D, He G, Huang W, Huang Z, Li Y, Tellier LC, Liu X, Feng Q, Xu X, Zhang X, Bolund L, Krogh A, Kristiansen K, Drmanac R, Drmanac S, Nielsen R, Li S, Wang J, Yang H, Li Y, Wong GK, Wang J.

Nat Biotechnol. 2015 Jun;33(6):617-22. doi: 10.1038/nbt.3200. Epub 2015 May 25.

PMID:
26006006
16.

Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing.

Peters BA, Kermani BG, Alferov O, Agarwal MR, McElwain MA, Gulbahce N, Hayden DM, Tang YT, Zhang RY, Tearle R, Crain B, Prates R, Berkeley A, Munné S, Drmanac R.

Genome Res. 2015 Mar;25(3):426-34. doi: 10.1101/gr.181255.114. Epub 2015 Feb 11.

17.

Co-barcoded sequence reads from long DNA fragments: a cost-effective solution for "perfect genome" sequencing.

Peters BA, Liu J, Drmanac R.

Front Genet. 2015 Jan 14;5:466. doi: 10.3389/fgene.2014.00466. eCollection 2014.

18.

Accurate whole genome sequencing as the ultimate genetic test.

Drmanac R, Peters BA, Church GM, Reid CA, Xu X.

Clin Chem. 2015 Jan;61(1):305-6. doi: 10.1373/clinchem.2014.224907. Epub 2014 Dec 5. No abstract available.

19.

Genome dynamics of the human embryonic kidney 293 lineage in response to cell biology manipulations.

Lin YC, Boone M, Meuris L, Lemmens I, Van Roy N, Soete A, Reumers J, Moisse M, Plaisance S, Drmanac R, Chen J, Speleman F, Lambrechts D, Van de Peer Y, Tavernier J, Callewaert N.

Nat Commun. 2014 Sep 3;5:4767. doi: 10.1038/ncomms5767.

20.

Personalized pharmacogenomics profiling using whole-genome sequencing.

Mizzi C, Peters B, Mitropoulou C, Mitropoulos K, Katsila T, Agarwal MR, van Schaik RH, Drmanac R, Borg J, Patrinos GP.

Pharmacogenomics. 2014 Jun;15(9):1223-34. doi: 10.2217/pgs.14.102.

PMID:
25141897
21.

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y.

Nat Genet. 2013 Nov;45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29.

22.

A public resource facilitating clinical use of genomes.

Ball MP, Thakuria JV, Zaranek AW, Clegg T, Rosenbaum AM, Wu X, Angrist M, Bhak J, Bobe J, Callow MJ, Cano C, Chou MF, Chung WK, Douglas SM, Estep PW, Gore A, Hulick P, Labarga A, Lee JH, Lunshof JE, Kim BC, Kim JI, Li Z, Murray MF, Nilsen GB, Peters BA, Raman AM, Rienhoff HY, Robasky K, Wheeler MT, Vandewege W, Vorhaus DB, Yang JL, Yang L, Aach J, Ashley EA, Drmanac R, Kim SJ, Li JB, Peshkin L, Seidman CE, Seo JS, Zhang K, Rehm HL, Church GM.

Proc Natl Acad Sci U S A. 2012 Jul 24;109(30):11920-7. doi: 10.1073/pnas.1201904109. Epub 2012 Jul 13.

23.

Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.

Peters BA, Kermani BG, Sparks AB, Alferov O, Hong P, Alexeev A, Jiang Y, Dahl F, Tang YT, Haas J, Robasky K, Zaranek AW, Lee JH, Ball MP, Peterson JE, Perazich H, Yeung G, Liu J, Chen L, Kennemer MI, Pothuraju K, Konvicka K, Tsoupko-Sitnikov M, Pant KP, Ebert JC, Nilsen GB, Baccash J, Halpern AL, Church GM, Drmanac R.

Nature. 2012 Jul 11;487(7406):190-5. doi: 10.1038/nature11236.

24.

Medicine. The ultimate genetic test.

Drmanac R.

Science. 2012 Jun 1;336(6085):1110-2. doi: 10.1126/science.1221037. No abstract available.

PMID:
22654043
25.

Evaluating the genomic and sequence integrity of human ES cell lines; comparison to normal genomes.

Funk WD, Labat I, Sampathkumar J, Gourraud PA, Oksenberg JR, Rosler E, Steiger D, Sheibani N, Caillier S, Stache-Crain B, Johnson JA, Meisner L, Lacher MD, Chapman KB, Park MJ, Shin KJ, Drmanac R, West MD.

Stem Cell Res. 2012 Mar;8(2):154-64. doi: 10.1016/j.scr.2011.10.001. Epub 2011 Oct 8.

26.

Computational techniques for human genome resequencing using mated gapped reads.

Carnevali P, Baccash J, Halpern AL, Nazarenko I, Nilsen GB, Pant KP, Ebert JC, Brownley A, Morenzoni M, Karpinchyk V, Martin B, Ballinger DG, Drmanac R.

J Comput Biol. 2012 Mar;19(3):279-92. doi: 10.1089/cmb.2011.0201. Epub 2011 Dec 16.

PMID:
22175250
27.

The advent of personal genome sequencing.

Drmanac R.

Genet Med. 2011 Mar;13(3):188-90. doi: 10.1097/GIM.0b013e31820f16e6.

PMID:
21311341
28.

Something new: an interview with Radoje Drmanac. Interview by Jane Gitschier.

Drmanac R.

PLoS Genet. 2010 Aug 19;6(8):e1001049. doi: 10.1371/journal.pgen.1001049. No abstract available.

29.

The mutation spectrum revealed by paired genome sequences from a lung cancer patient.

Lee W, Jiang Z, Liu J, Haverty PM, Guan Y, Stinson J, Yue P, Zhang Y, Pant KP, Bhatt D, Ha C, Johnson S, Kennemer MI, Mohan S, Nazarenko I, Watanabe C, Sparks AB, Shames DS, Gentleman R, de Sauvage FJ, Stern H, Pandita A, Ballinger DG, Drmanac R, Modrusan Z, Seshagiri S, Zhang Z.

Nature. 2010 May 27;465(7297):473-7. doi: 10.1038/nature09004.

PMID:
20505728
30.

Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ.

Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10.

31.

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays.

Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Koenig M, Kong C, Landers T, Le C, Liu J, McBride CE, Morenzoni M, Morey RE, Mutch K, Perazich H, Perry K, Peters BA, Peterson J, Pethiyagoda CL, Pothuraju K, Richter C, Rosenbaum AM, Roy S, Shafto J, Sharanhovich U, Shannon KW, Sheppy CG, Sun M, Thakuria JV, Tran A, Vu D, Zaranek AW, Wu X, Drmanac S, Oliphant AR, Banyai WC, Martin B, Ballinger DG, Church GM, Reid CA.

Science. 2010 Jan 1;327(5961):78-81. doi: 10.1126/science.1181498. Epub 2009 Nov 5.

32.

Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.

Schirinzi A, Drmanac S, Dallapiccola B, Huang S, Scott K, De Luca A, Swanson D, Drmanac R, Surrey S, Fortina P.

Genet Test. 2006 Spring;10(1):8-17.

PMID:
16544997
33.

Multiplexed SNP genotyping using nanobarcode particle technology.

Sha MY, Walton ID, Norton SM, Taylor M, Yamanaka M, Natan MJ, Xu C, Drmanac S, Huang S, Borcherding A, Drmanac R, Penn SG.

Anal Bioanal Chem. 2006 Feb;384(3):658-66. Epub 2006 Jan 19.

PMID:
16421712
34.

Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.

Cowie S, Drmanac S, Swanson D, Delgrosso K, Huang S, du Sart D, Drmanac R, Surrey S, Fortina P.

Hum Mutat. 2004 Sep;24(3):261-71.

PMID:
15300853
35.

Selective DNA amplification from complex genomes using universal double-sided adapters.

Callow MJ, Drmanac S, Drmanac R.

Nucleic Acids Res. 2004 Jan 28;32(2):e21.

36.

Sequencing by hybridization (SBH): advantages, achievements, and opportunities.

Drmanac R, Drmanac S, Chui G, Diaz R, Hou A, Jin H, Jin P, Kwon S, Lacy S, Moeur B, Shafto J, Swanson D, Ukrainczyk T, Xu C, Little D.

Adv Biochem Eng Biotechnol. 2002;77:75-101. Review.

PMID:
12227738
37.

Elevated baseline triglyceride levels modulate effects of HMGCoA reductase inhibitors on plasma lipoproteins.

Drmanac S, Heilbron DC, Pullinger CR, Jafari M, Gietzen D, Ukrainczyk T, Cho MH, Frost PH, Siradze K, Drmanac RT, Kane JP, Malloy MJ.

J Cardiovasc Pharmacol Ther. 2001 Jan;6(1):47-56.

PMID:
11452336
38.

Sequencing by hybridization arrays.

Drmanac R, Drmanac S.

Methods Mol Biol. 2001;170:39-51. Review. No abstract available.

PMID:
11357688
39.

DNA sequencing by hybridization with arrays of samples or probes.

Drmanac R, Drmanac S, Baier J, Chui G, Coleman D, Diaz R, Gietzen D, Hou A, Jin H, Ukrainczyk T, Xu C.

Methods Mol Biol. 2001;170:173-9. No abstract available.

PMID:
11357681
40.

Cloning of a novel epidermal growth factor repeat containing gene EGFL6: expressed in tumor and fetal tissues.

Yeung G, Mulero JJ, Berntsen RP, Loeb DB, Drmanac R, Ford JE.

Genomics. 1999 Dec 1;62(2):304-7.

PMID:
10610727
41.

IL1HY1: A novel interleukin-1 receptor antagonist gene.

Mulero JJ, Pace AM, Nelken ST, Loeb DB, Correa TR, Drmanac R, Ford JE.

Biochem Biophys Res Commun. 1999 Oct 5;263(3):702-6.

PMID:
10512743
42.

cDNA screening by array hybridization.

Drmanac R, Drmanac S.

Methods Enzymol. 1999;303:165-78. No abstract available.

PMID:
10349645
43.

Accurate sequencing by hybridization for DNA diagnostics and individual genomics.

Drmanac S, Kita D, Labat I, Hauser B, Schmidt C, Burczak JD, Drmanac R.

Nat Biotechnol. 1998 Jan;16(1):54-8.

PMID:
9447594
44.

Gene-representing cDNA clusters defined by hybridization of 57,419 clones from infant brain libraries with short oligonucleotide probes.

Drmanac S, Stavropoulos NA, Labat I, Vonau J, Hauser B, Soares MB, Drmanac R.

Genomics. 1996 Oct 1;37(1):29-40.

PMID:
8921367
45.
46.

DNA sequence determination by hybridization: a strategy for efficient large-scale sequencing.

Drmanac R, Drmanac S, Strezoska Z, Paunesku T, Labat I, Zeremski M, Snoddy J, Funkhouser WK, Koop B, Hood L, et al.

Science. 1993 Jun 11;260(5114):1649-52. Erratum in: Science 1994 Feb 4;163(5147):596.

PMID:
8503011
47.

Sequencing by hybridization: towards an automated sequencing of one million M13 clones arrayed on membranes.

Drmanac R, Drmanac S, Labat I, Crkvenjakov R, Vicentic A, Gemmell A.

Electrophoresis. 1992 Aug;13(8):566-73.

PMID:
1451694
48.

DNA sequencing by hybridization: 100 bases read by a non-gel-based method.

Strezoska Z, Paunesku T, Radosavljević D, Labat I, Drmanac R, Crkvenjakov R.

Proc Natl Acad Sci U S A. 1991 Nov 15;88(22):10089-93.

49.

W (A or T) sequences as probes and primers suitable for genomic mapping and fingerprinting.

Drmanac R, Nizetic D, Lennon GG, Beitverda A, Lehrach H.

Nucleic Acids Res. 1991 Nov 11;19(21):5839-42.

50.

Easy removal of oil from microtiter dishes following PCR.

Lennon GG, Drmanac R, Lehrach H.

Biotechniques. 1991 Aug;11(2):185. No abstract available.

PMID:
1931015

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