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Results: 17

1.

Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia.

Babushok DV, Perdigones N, Perin JC, Olson TS, Ye W, Roth JJ, Lind C, Cattier C, Li Y, Hartung H, Paessler ME, Frank DM, Xie HM, Cross S, Cockroft JD, Podsakoff GM, Monos D, Biegel JA, Mason PJ, Bessler M.

Cancer Genet. 2015 Feb 2. pii: S2210-7762(15)00008-3. doi: 10.1016/j.cancergen.2015.01.007. [Epub ahead of print]

PMID:
25800665
2.

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.

Picard M, Zhang J, Hancock S, Derbeneva O, Golhar R, Golik P, O'Hearn S, Levy S, Potluri P, Lvova M, Davila A, Lin CS, Perin JC, Rappaport EF, Hakonarson H, Trounce IA, Procaccio V, Wallace DC.

Proc Natl Acad Sci U S A. 2014 Sep 23;111(38):E4033-42. doi: 10.1073/pnas.1414028111. Epub 2014 Sep 5.

3.

Efficient digest of high-throughput sequencing data in a reproducible report.

Zhang Z, Leipzig J, Sasson A, Yu AM, Perin JC, Xie HM, Sarmady M, Warren PV, White PS.

BMC Bioinformatics. 2013;14 Suppl 11:S3. doi: 10.1186/1471-2105-14-S11-S3. Epub 2013 Sep 13.

4.

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.

Babushok DV, Xie HM, Roth JJ, Perdigones N, Olson TS, Cockroft JD, Gai X, Perin JC, Li Y, Paessler ME, Hakonarson H, Podsakoff GM, Mason PJ, Biegel JA, Bessler M.

Br J Haematol. 2014 Jan;164(1):73-82. doi: 10.1111/bjh.12603. Epub 2013 Oct 14.

5.

NMNAT1 mutations cause Leber congenital amaurosis.

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA.

Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29.

6.

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

Xie HM, Perin JC, Schurr TG, Dulik MC, Zhadanov SI, Baur JA, King MP, Place E, Clarke C, Grauer M, Schug J, Santani A, Albano A, Kim C, Procaccio V, Hakonarson H, Gai X, Falk MJ.

BMC Bioinformatics. 2011 Oct 19;12:402. doi: 10.1186/1471-2105-12-402.

7.

Genome-wide analysis of interferon regulatory factor I binding in primary human monocytes.

Shi L, Perin JC, Leipzig J, Zhang Z, Sullivan KE.

Gene. 2011 Nov 1;487(1):21-8. doi: 10.1016/j.gene.2011.07.004. Epub 2011 Jul 19.

8.

Rare structural variation of synapse and neurotransmission genes in autism.

Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS.

Mol Psychiatry. 2012 Apr;17(4):402-11. doi: 10.1038/mp.2011.10. Epub 2011 Mar 1.

9.

Cytokine-induced monocyte characteristics in SLE.

Zhang Z, Maurer K, Perin JC, Song L, Sullivan KE.

J Biomed Biotechnol. 2010;2010:507475. doi: 10.1155/2010/507475. Epub 2010 Jun 24.

10.

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.

Gai X, Perin JC, Murphy K, O'Hara R, D'arcy M, Wenocur A, Xie HM, Rappaport EF, Shaikh TH, White PS.

BMC Bioinformatics. 2010 Feb 4;11:74. doi: 10.1186/1471-2105-11-74.

11.

Bactericidal and hemolytic activities of synthetic peptides derived from granulysin.

Siano A, Tonarelli G, Imaz MS, Perín JC, Ruggeri N, López M, Santi MN, Zerbini E.

Protein Pept Lett. 2010 Apr;17(4):517-21.

PMID:
19961432
12.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H.

Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10.

13.

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.

Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS.

Mol Psychiatry. 2010 Jun;15(6):637-46. doi: 10.1038/mp.2009.57. Epub 2009 Jun 23. Erratum in: Mol Psychiatry. 2010 Nov;15(11):1122.

14.

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors.

Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA.

Clin Cancer Res. 2009 Mar 15;15(6):1923-30. doi: 10.1158/1078-0432.CCR-08-2091. Epub 2009 Mar 10.

15.

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH.

Eur J Med Genet. 2009 Jul-Aug;52(4):265-8. doi: 10.1016/j.ejmg.2008.11.005. Epub 2008 Dec 13.

PMID:
19100872
16.

Monitoring substrate and products in a bioprocess with FTIR spectroscopy coupled to artificial neural networks enhanced with a genetic-algorithm-based method for wavelength selection.

Franco VG, Perín JC, Mantovani VE, Goicoechea HC.

Talanta. 2006 Jan 15;68(3):1005-12. doi: 10.1016/j.talanta.2005.07.003. Epub 2005 Aug 10.

PMID:
18970424
17.

Systematic epitope analysis of the p26 EIAV core protein.

Soutullo A, Santi MN, Perin JC, Beltramini LM, Borel IM, Frank R, Tonarelli GG.

J Mol Recognit. 2007 Jul-Aug;20(4):227-37.

PMID:
17705340
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