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Incidental Detection of Maternal Neoplasia in Noninvasive Prenatal Testing.

Dharajiya NG, Grosu DS, Farkas DH, McCullough RM, Almasri E, Sun Y, Kim SK, Jensen TJ, Saldivar JS, Topol EJ, van den Boom D, Ehrich M.

Clin Chem. 2018 Feb;64(2):329-335. doi: 10.1373/clinchem.2017.277517. Epub 2017 Oct 5.


Using Targeted Sequencing of Paralogous Sequences for Noninvasive Detection of Selected Fetal Aneuploidies.

Ellison CK, Sun Y, Hogg G, Fox J, Tao H, McCarthy E, Sagoe B, Azab MA, Mazloom AR, Tynan J, Burcham T, Kim SK, van den Boom D, Ehrich M, Jensen TJ.

Clin Chem. 2016 Dec;62(12):1621-1629. Epub 2016 Sep 30.



Ehrich M, Grosu D, van den Boom D, Tynan J.

Am J Obstet Gynecol. 2016 Oct;215(4):534-5. doi: 10.1016/j.ajog.2016.06.009. Epub 2016 Jun 15. No abstract available.


Copy-Number Variation and False Positive Results of Prenatal Screening.

van den Boom D, Ehrich M, Kim SK.

N Engl J Med. 2015 Dec 24;373(26):2584. doi: 10.1056/NEJMc1507106. No abstract available.


Ultrasensitive Detection of Multiplexed Somatic Mutations Using MALDI-TOF Mass Spectrometry.

Mosko MJ, Nakorchevsky AA, Flores E, Metzler H, Ehrich M, van den Boom DJ, Sherwood JL, Nygren AO.

J Mol Diagn. 2016 Jan;18(1):23-31. doi: 10.1016/j.jmoldx.2015.08.001. Epub 2015 Nov 18.


Application of risk score analysis to low-coverage whole genome sequencing data for the noninvasive detection of trisomy 21, trisomy 18, and trisomy 13.

Tynan JA, Kim SK, Mazloom AR, Zhao C, McLennan G, Tim R, Liu L, Hannum G, Hull A, Bombard AT, Oeth P, Burcham T, van den Boom D, Ehrich M.

Prenat Diagn. 2016 Jan;36(1):56-62. doi: 10.1002/pd.4712. Epub 2015 Dec 23.


Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts.

Kim SK, Hannum G, Geis J, Tynan J, Hogg G, Zhao C, Jensen TJ, Mazloom AR, Oeth P, Ehrich M, van den Boom D, Deciu C.

Prenat Diagn. 2015 Aug;35(8):810-5. doi: 10.1002/pd.4615. Epub 2015 Jun 3.


Whole genome bisulfite sequencing of cell-free DNA and its cellular contributors uncovers placenta hypomethylated domains.

Jensen TJ, Kim SK, Zhu Z, Chin C, Gebhard C, Lu T, Deciu C, van den Boom D, Ehrich M.

Genome Biol. 2015 Apr 15;16:78. doi: 10.1186/s13059-015-0645-x.


Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma.

Zhao C, Tynan J, Ehrich M, Hannum G, McCullough R, Saldivar JS, Oeth P, van den Boom D, Deciu C.

Clin Chem. 2015 Apr;61(4):608-16. doi: 10.1373/clinchem.2014.233312. Epub 2015 Feb 20.


Circulating cell free DNA testing: are some test failures informative?

Palomaki GE, Kloza EM, Lambert-Messerlian GM, van den Boom D, Ehrich M, Deciu C, Bombard AT, Haddow JE.

Prenat Diagn. 2015 Mar;35(3):289-93. doi: 10.1002/pd.4541. Epub 2015 Jan 8.


Maternal plasma cell-free DNA in the prediction of pre-eclampsia.

Rolnik DL, O'Gorman N, Fiolna M, van den Boom D, Nicolaides KH, Poon LC.

Ultrasound Obstet Gynecol. 2015 Jan;45(1):106-11. doi: 10.1002/uog.14671. Epub 2014 Dec 4.


Noninvasive detection of a balanced fetal translocation from maternal plasma.

Jensen TJ, Kim SK, van den Boom D, Deciu C, Ehrich M.

Clin Chem. 2014 Oct;60(10):1298-305. doi: 10.1373/clinchem.2014.223198. Epub 2014 Jul 16.


Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.

Porreco RP, Garite TJ, Maurel K, Marusiak B; Obstetrix Collaborative Research Network, Ehrich M, van den Boom D, Deciu C, Bombard A.

Am J Obstet Gynecol. 2014 Oct;211(4):365.e1-12. doi: 10.1016/j.ajog.2014.03.042. Epub 2014 Mar 19.


Noninvasive prenatal detection of aneuploidy.

Robinson C, van den Boom D, Bombard AT.

Clin Obstet Gynecol. 2014 Mar;57(1):210-25. doi: 10.1097/GRF.0000000000000016. Review.


Comment on "Clinical application of massively parallel sequencing-based prenatal non-invasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors".

Kim S, Zhao C, Bombard AT, Cantor C, van den Boom D, Deciu C.

Prenat Diagn. 2013 Dec;33(13):1310-3. doi: 10.1002/pd.4231. No abstract available.


Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies.

Lambert-Messerlian G, Kloza EM, Williams J 3rd, Loucky J, O'Brien B, Wilkins-Haug L, Mahoney MJ, De Biasio P, Borrell A, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE.

Genet Med. 2014 May;16(5):419-22. doi: 10.1038/gim.2013.149. Epub 2013 Oct 3.


MALDI-TOF mass spectrometry.

van den Boom D, Wjst M, Everts RE.

Methods Mol Biol. 2013;1015:71-85. doi: 10.1007/978-1-62703-435-7_4.


Fathers' challenging parenting behavior prevents social anxiety development in their 4-year-old children: a longitudinal observational study.

Majdandžić M, Möller EL, de Vente W, Bögels SM, van den Boom DC.

J Abnorm Child Psychol. 2014 Feb;42(2):301-10. doi: 10.1007/s10802-013-9774-4.


Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing.

Wong D, Moturi S, Angkachatchai V, Mueller R, DeSantis G, van den Boom D, Ehrich M.

Clin Biochem. 2013 Aug;46(12):1099-1104. doi: 10.1016/j.clinbiochem.2013.04.023. Epub 2013 Apr 30.


Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma.

Mazloom AR, Džakula Ž, Oeth P, Wang H, Jensen T, Tynan J, McCullough R, Saldivar JS, Ehrich M, van den Boom D, Bombard AT, Maeder M, McLennan G, Meschino W, Palomaki GE, Canick JA, Deciu C.

Prenat Diagn. 2013 Jun;33(6):591-7. doi: 10.1002/pd.4127.


High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma.

Jensen TJ, Zwiefelhofer T, Tim RC, Džakula Ž, Kim SK, Mazloom AR, Zhu Z, Tynan J, Lu T, McLennan G, Palomaki GE, Canick JA, Oeth P, Deciu C, van den Boom D, Ehrich M.

PLoS One. 2013;8(3):e57381. doi: 10.1371/journal.pone.0057381. Epub 2013 Mar 6.


A new era in prenatal diagnosis: the use of cell-free fetal DNA in maternal circulation for detection of chromosomal aneuploidies.

Shea JL, Diamandis EP, Hoffman B, Lo YM, Canick J, van den Boom D.

Clin Chem. 2013 Aug;59(8):1151-9. doi: 10.1373/clinchem.2012.201996. Epub 2013 Feb 20. No abstract available.


Multiplex protein detection with DNA readout via mass spectrometry.

Flanigon J, Kamali-Moghaddam M, Burbulis I, Annink C, Steffen M, Oeth P, Brent R, van den Boom D, Landegren U, Cantor C.

N Biotechnol. 2013 Jan 25;30(2):153-8. doi: 10.1016/j.nbt.2012.11.003. Epub 2012 Nov 28.


DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations.

Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE.

Prenat Diagn. 2012 Aug;32(8):730-4. doi: 10.1002/pd.3892. Epub 2012 May 14.


Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma.

Jensen TJ, Dzakula Z, Deciu C, van den Boom D, Ehrich M.

Clin Chem. 2012 Jul;58(7):1148-51. doi: 10.1373/clinchem.2011.180794. Epub 2012 May 4.


DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.

Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA.

Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2.


DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study.

Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA.

Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.


Restriction enzyme-mediated enhanced detection of circulating cell-free fetal DNA in maternal plasma.

Tynan JA, Mahboubi P, Cagasan LL, van den Boom D, Ehrich M, Oeth P.

J Mol Diagn. 2011 Jul;13(4):382-9. doi: 10.1016/j.jmoldx.2011.02.001. Epub 2011 May 6.


Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting.

Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D.

Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18.


Multiplexed analysis of circulating cell-free fetal nucleic acids for noninvasive prenatal diagnostic RHD testing.

Tynan JA, Angkachatchai V, Ehrich M, Paladino T, van den Boom D, Oeth P.

Am J Obstet Gynecol. 2011 Mar;204(3):251.e1-6. doi: 10.1016/j.ajog.2010.09.028. Epub 2010 Nov 18.


Quantification of fetal DNA by use of methylation-based DNA discrimination.

Nygren AO, Dean J, Jensen TJ, Kruse S, Kwong W, van den Boom D, Ehrich M.

Clin Chem. 2010 Oct;56(10):1627-35. doi: 10.1373/clinchem.2010.146290. Epub 2010 Aug 20.


The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

Farkas DH, Miltgen NE, Stoerker J, van den Boom D, Highsmith WE, Cagasan L, McCullough R, Mueller R, Tang L, Tynan J, Tate C, Bombard A.

J Mol Diagn. 2010 Sep;12(5):611-9. doi: 10.2353/jmoldx.2010.090233. Epub 2010 Jul 8.


DNA methylation profiling in cell models of diabetic nephropathy.

Brennan EP, Ehrich M, O'Donovan H, Brazil DP, Crean JK, Murphy M, Sadlier DM, Martin F, Godson C, van den Boom D, Maxwell AP, Savage DA.

Epigenetics. 2010 Jul 1;5(5):396-401. Epub 2010 Jul 1.


Quantitative DNA methylation predicts survival in adult acute myeloid leukemia.

Bullinger L, Ehrich M, Döhner K, Schlenk RF, Döhner H, Nelson MR, van den Boom D.

Blood. 2010 Jan 21;115(3):636-42. doi: 10.1182/blood-2009-03-211003. Epub 2009 Nov 10.


Qualitative and quantitative genotyping using single base primer extension coupled with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MassARRAY).

Oeth P, del Mistro G, Marnellos G, Shi T, van den Boom D.

Methods Mol Biol. 2009;578:307-43. doi: 10.1007/978-1-60327-411-1_20.


Comparative analysis of DNA methylation profiles in peripheral blood leukocytes versus lymphoblastoid cell lines.

Brennan EP, Ehrich M, Brazil DP, Crean JK, Murphy M, Sadlier DM, Martin F, Godson C, McKnight AJ, van den Boom D, Maxwell AP, Savage DA.

Epigenetics. 2009 Apr 1;4(3):159-64. Epub 2009 Apr 18.


Hypermethylation of genes for diagnosis and risk stratification of prostate cancer.

Vanaja DK, Ehrich M, Van den Boom D, Cheville JC, Karnes RJ, Tindall DJ, Cantor CR, Young CY.

Cancer Invest. 2009 Jun;27(5):549-60. doi: 10.1080/07357900802620794.


Oct4-induced pluripotency in adult neural stem cells.

Kim JB, Sebastiano V, Wu G, Araúzo-Bravo MJ, Sasse P, Gentile L, Ko K, Ruau D, Ehrich M, van den Boom D, Meyer J, Hübner K, Bernemann C, Ortmeier C, Zenke M, Fleischmann BK, Zaehres H, Schöler HR.

Cell. 2009 Feb 6;136(3):411-9. doi: 10.1016/j.cell.2009.01.023.


Mass spectrometric analysis of cytosine methylation by base-specific cleavage and primer extension methods.

van den Boom D, Ehrich M.

Methods Mol Biol. 2009;507:207-27. doi: 10.1007/978-1-59745-522-0_16.


Peas in a pod: biases in the measurement of sibling temperament?

Majdandzic M, van den Boom DC, Heesbeen DG.

Dev Psychol. 2008 Sep;44(5):1354-68. doi: 10.1037/a0013064.


Cytosine methylation profiling of cancer cell lines.

Ehrich M, Turner J, Gibbs P, Lipton L, Giovanneti M, Cantor C, van den Boom D.

Proc Natl Acad Sci U S A. 2008 Mar 25;105(12):4844-9. doi: 10.1073/pnas.0712251105. Epub 2008 Mar 19.


Discovery and identification of sequence polymorphisms and mutations with MALDI-TOF MS.

van den Boom D, Ehrich M.

Methods Mol Biol. 2007;366:287-306.


Automated comparative sequence analysis by base-specific cleavage and mass spectrometry for nucleic acid-based microbial typing.

Honisch C, Chen Y, Mortimer C, Arnold C, Schmidt O, van den Boom D, Cantor CR, Shah HN, Gharbia SE.

Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10649-54. Epub 2007 Jun 11.


Child adjustment and parenting in planned lesbian-parent families.

Bos HM, van Balen F, van den Boom DC.

Am J Orthopsychiatry. 2007 Jan;77(1):38-48.


A new method for accurate assessment of DNA quality after bisulfite treatment.

Ehrich M, Zoll S, Sur S, van den Boom D.

Nucleic Acids Res. 2007;35(5):e29. Epub 2007 Jan 26. Erratum in: Nucleic Acids Res. 2014 Oct 29;42(19):12331.


The C/EBPdelta tumor suppressor is silenced by hypermethylation in acute myeloid leukemia.

Agrawal S, Hofmann WK, Tidow N, Ehrich M, van den Boom D, Koschmieder S, Berdel WE, Serve H, Müller-Tidow C.

Blood. 2007 May 1;109(9):3895-905. Epub 2007 Jan 18.


Multimethod longitudinal assessment of temperament in early childhood.

Majdandzić M, van den Boom DC.

J Pers. 2007 Feb;75(1):121-68.


Cytosine methylation profiles as a molecular marker in non-small cell lung cancer.

Ehrich M, Field JK, Liloglou T, Xinarianos G, Oeth P, Nelson MR, Cantor CR, van den Boom D.

Cancer Res. 2006 Nov 15;66(22):10911-8.


Comparative genome sequencing of Escherichia coli allows observation of bacterial evolution on a laboratory timescale.

Herring CD, Raghunathan A, Honisch C, Patel T, Applebee MK, Joyce AR, Albert TJ, Blattner FR, van den Boom D, Cantor CR, Palsson BØ.

Nat Genet. 2006 Dec;38(12):1406-12. Epub 2006 Nov 5.


Downregulation of RUNX3 and TES by hypermethylation in glioblastoma.

Mueller W, Nutt CL, Ehrich M, Riemenschneider MJ, von Deimling A, van den Boom D, Louis DN.

Oncogene. 2007 Jan 25;26(4):583-93. Epub 2006 Aug 14.


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