recent publications
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academic article
- Sigdel, T. K., Archila, F. A., Constantin, T., Prins, S. A., Liberto, J., Damm, I., Towfighi, P., Navarro, S., Kirkizlar, E., Demko, Z. P., Ryan, A., Sigurjonsson, S., et al. Optimizing detection of kidney transplant injury by assessment of donor-derived cell-free DNA via massively multiplex PCR Journal of Clinical Medicine 2019 8 DOI:10.3390/jcm8010019 PMID:30583588 PMCID:PMC6352163
- Benn, P., Valenti, E., Shah, S., Martin, K., Demko, Z. Factors associated with informative redraw after an initial no result in noninvasive prenatal testing Obstetrics and Gynecology 2018 132:428-435 DOI:10.1097/aog.0000000000002728 PMID:29995728
- McCoy, R. C., Newnham, L. J., Ottolini, C. S., Hoffmann, E. R., Chatzimeletiou, K., Cornejo, O. E., Zhan, Q., Zaninovic, N., Rosenwaks, Z., Petrov, D. A., Demko, Z. P., Sigurjonsson, S., et al. Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos Human Molecular Genetics 2018 27:2573-2585 DOI:10.1093/hmg/ddy147 PMID:29688390 PMCID:PMC6030883
- Simon, A. L., Kiehl, M., Fischer, E., Proctor, J. G., Bush, M. R., Givens, C., Rabinowitz, M., Demko, Z. P. Pregnancy outcomes from more than 1,800 in vitro fertilization cycles with the use of 24-chromosome single-nucleotide polymorphism-based preimplantation genetic testing for aneuploidy Fertility and Sterility 2018 110:113-121 DOI:10.1016/j.fertnstert.2018.03.026 PMID:29908770
- Kort, J. D., McCoy, R. C., Demko, Z., Lathi, R. B. Are blastocyst aneuploidy rates different between fertile and infertile populations? Journal of Assisted Reproduction and Genetics 2018 35:403-408 DOI:10.1007/s10815-017-1060-x PMID:29063503 PMCID:PMC5904052
- Ravi, H., McNeill, G., Goel, S., Meltzer, S. D., Hunkapiller, N., Ryan, A., Levy, B., Demko, Z. P. Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples PLoS One 2018 13:293-300 DOI:10.1371/journal.pone.0193476 PMID:29474437 PMCID:PMC5825123
- Martin, K., Iyengar, S., Kalyan, A., Lan, C., Simon, A. L., Stosic, M., Kobara, K., Ravi, H., Truong, T., Ryan, A., Demko, Z. P., Benn, P. Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions Clinical Genetics 2018 93:293-300 DOI:10.1111/cge.13098 PMID:28696552
- Benn, P., Iyengar, S., Crowley, T. B., Zackai, E. H., Burrows, E. K., Moshkevich, S., McDonald-McGinn, D. M., Sullivan, K. E., Demko, Z. Pediatric healthcare costs for patients with 22q11.2 deletion syndrome Molecular Genetics & Genomic Medicine 2017 5:631-638 DOI:10.1002/mgg3.310 PMID:29178641
- Maisenbacher, M. K., Merrion, K., Pettersen, B., Young, M., Paik, K., Iyengar, S., Kareht, S., Sigurjonsson, S., Demko, Z. P., Martin, K. A. Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples Molecular Cytogenetics 2017 10 DOI:10.1186/s13039-017-0308-6 PMID:28293297 PMCID:PMC5345148
- Samango-Sprouse, C., Kirkizlar, E., Hall, M. P., Lawson, P., Demko, Z., Zneimer, S. M., Curnow, K. J., Gross, S., Gropman, A. Incidence of X and Y chromosomal aneuploidy in a large child bearing population PLoS One 2016 11 DOI:10.1371/journal.pone.0161045 PMID:27512996 PMCID:PMC4981345
- Demko, Z. P., Simon, A. L., McCoy, R. C., Petrov, D. A., Rabinowitz, M. Effects of maternal age on euploidy rates in a large cohort of embryos analyzed with 24-chromosome single-nucleotide polymorphism-based preimplantation genetic screening Fertility and Sterility 2016 105:1307-1313 DOI:10.1016/j.fertnstert.2016.01.025 PMID:26868992
- Gross, S. J., Stosic, M., McDonald-McGinn, D. M., Bassett, A. S., Norvez, A., Dhamankar, R., Kobara, K., Kirkizlar, E., Zimmermann, B., Wayham, N., Babiarz, J. E., Ryan, A., et al. Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome Ultrasound in Obstetrics & Gynecology 2016 47:177-183 DOI:10.1002/uog.15754 PMID:26396068 PMCID:PMC5064640
- Ryan, A., Hunkapiller, N., Banjevic, M., Vankayalapati, N., Fong, N., Jinnett, K. N., Demko, Z., Zimmermann, B., Sigurjonsson, S., Gross, S. J., Hill, M. Validation of an enhanced version of a single-nucleotide polymorphism-based noninvasive prenatal test for detection of fetal aneuploidies Fetal Diagnosis and Therapy 2016 40:219-223 DOI:10.1159/000442931 PMID:27028530
- Kirkizlar, E., Zimmermann, B., Constantin, T., Swenerton, R., Hoang, B., Wayham, N., Babiarz, J. E., Demko, Z., Pelham, R. J., Kareht, S., Simon, A. L., Jinnett, K. N., et al. Detection of clonal and subclonal copy-number variants in cell-free DNA from patients with breast cancer using a massively multiplexed PCR methodology Translational Oncology 2015 8:407-416 DOI:10.1016/j.tranon.2015.08.004 PMID:26500031 PMCID:PMC4631096
- Simon, A. L., Su, B., Demko, Z., Rabinowitz, M., Harmon, E. R., Gross, S. J. Detection of complete molar pregnancy by single-nucleotide polymorphism-based non-invasive prenatal testing Ultrasound in Obstetrics & Gynecology 2015 46:506-507 DOI:10.1002/uog.14854 PMID:25810270
- Wapner, R. J., Babiarz, J. E., Levy, B., Stosic, M., Zimmermann, B., Sigurjonsson, S., Wayham, N., Ryan, A., Banjevic, M., Lacroute, P., Hu, J., Hall, M. P., et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes Obstetrical & Gynecological Survey 2015 70:481-482 DOI:10.1097/01.ogx.0000470656.81447.e7 PMID:25479548
- McCoy, R. C., Demko, Z., Ryan, A., Banjevic, M., Hill, M., Sigurjonsson, S., Rabinowitz, M., Fraser, H. B., Petrov, D. A. Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos Obstetrical & Gynecological Survey 2015 70:451-452
- McCoy, R. C., Demko, Z., Ryan, A., Banjevic, M., Hill, M., Sigurjonsson, S., Rabinowitz, M., Fraser, H. B., Petrov, D. A. Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos Science 2015 348:235-238 DOI:10.1126/science.aaa3337 PMID:25859044
- Wapner, R. J., Babiarz, J. E., Levy, B., Stosic, M., Zimmermann, B., Sigurjonsson, S., Wayham, N., Ryan, A., Banjevic, M., Lacroute, P., Hu, J., Hall, M. P., et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes American Journal of Obstetrics and Gynecology 2015 212:332.e1-9 DOI:10.1016/j.ajog.2014.11.041 PMID:25479548
- McCoy, R. C., Demko, Z. P., Ryan, A., Banjevic, M., Hill, M., Sigurjonsson, S., Rabinowitz, M., Petrov, D. A. Evidence of selection against complex mitotic-origin aneuploidy during preimplantation development PLoS Genetics 2015 11 DOI:10.1371/journal.pgen.1005601 PMID:26491874 PMCID:PMC4619652
- Curnow, K. J., Wilkins-Haug, L., Ryan, A., Kirkizlar, E., Stosic, M., Hall, M. P., Sigurjonsson, S., Demko, Z., Rabinowitz, M., Gross, S. J. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test American Journal of Obstetrics and Gynecology 2015 212:79.e1-e9 DOI:10.1016/j.ajog.2014.10.012 PMID:25447960
- Dar, P., Curnow, K. J., Gross, S. J., Hall, M. P., Stosic, M., Demko, Z., Zimmermann, B., Hill, M., Sigurjonsson, S., Ryan, A., Banjevic, M., Kolacki, P. L., et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing American Journal of Obstetrics and Gynecology 2014 211:527.e1-527.e17 DOI:10.1016/j.ajog.2014.08.006 PMID:25111587
- Levy, B., Sigurjonsson, S., Pettersen, B., Maisenbacher, M. K., Hall, M. P., Demko, Z., Lathi, R. B., Tao, R., Aggarwal, V., Rabinowitz, M. Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis Obstetrics and Gynecology 2014 124:202-209 DOI:10.1097/aog.0000000000000325 PMID:25004334
- Pergament, E., Cuckle, H., Zimmermann, B., Banjevic, M., Sigurjonsson, S., Ryan, A., Hall, M. P., Dodd, M., Lacroute, P., Stosic, M., Chopra, N., Hunkapiller, N., et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort Obstetrics and Gynecology 2014 124:210-218 DOI:10.1097/aog.0000000000000363 PMID:25004354 PMCID:PMC4144440
- Hall, M. P., Hill, M., Zimmermann, B., Sigurjonsson, S., Westemeyer, M., Saucier, J., Demko, Z., Rabinowitz, M. Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach PLoS One 2014 9 DOI:10.1371/journal.pone.0096677 PMID:24805989 PMCID:PMC4013011
- Lathi, R. B., Gustin, S. L. F., Keller, J., Maisenbacher, M. K., Sigurjonsson, S., Tao, R., Demko, Z. Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens Fertility and Sterility 2014 101:178-182 DOI:10.1016/j.fertnstert.2013.09.031 PMID:24182409
- Samango-Sprouse, C., Banjevic, M., Ryan, A., Sigurjonsson, S., Zimmermann, B., Hill, M., Hall, M. P., Westemeyer, M., Saucier, J., Demko, Z., Rabinowitz, M. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy Prenatal Diagnosis 2013 33:643-649 DOI:10.1002/pd.4159 PMID:23712453 PMCID:PMC3764608
- Ryan, A., Baner, J., Demko, Z., Hill, M., Sigurjonsson, S., Baird, M. L., Rabinowitz, M. Informatics-based, highly accurate, noninvasive prenatal paternity testing Genetics in Medicine 2013 15:473-477 DOI:10.1038/gim.2012.155 PMID:23258349 PMCID:PMC3910294
- Zimmermann, B., Hill, M., Gemelos, G., Demko, Z., Banjevic, M., Baner, J., Ryan, A., Sigurjonsson, S., Chopra, N., Dodd, M., Levy, B., Rabinowitz, M. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci Prenatal Diagnosis 2012 32:1233-1241 DOI:10.1002/pd.3993 PMID:23108718 PMCID:PMC3548605
- Demko, Z., Zimmermann, B., Rabinowitz, M. Non-invasive prenatal testing for whole chromosome abnormalities Laboratoriumsmedizin-Journal of Laboratory Medicine 2012 36:263-267 DOI:10.1515/labmed-2012-0026
- Lathi, R. B., Loring, M., Massie, J. A. M., Demko, Z. P., Johnson, D., Sigurjonsson, S., Gemelos, G., Rabinowitz, M. Informatics enhanced SNP microarray analysis of 30 miscarriage samples compared to routine cytogenetics PLoS One 2012 7 DOI:10.1371/journal.pone.0031282 PMID:22403611 PMCID:PMC3293871
- Rabinowitz, M., Ryan, A., Gemelos, G., Hill, M., Baner, J., Cinnioglu, C., Banjevic, M., Potter, D., Petrov, D. A., Demko, Z. Origins and rates of aneuploidy in human blastomeres Fertility and Sterility 2012 97:395-401 DOI:10.1016/j.fertnstert.2011.11.034 PMID:22195772
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Himo, F., Demko, Z. P., Noodleman, L. Density functional theory study of the intramolecular [2 + 3] cycloaddition of azide to nitriles Journal of Organic Chemistry 2003 68:9076-9080 DOI:10.1021/jo030137i PMID:14604383
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Himo, F., Demko, Z. P., Noodleman, L., Sharpless, K. B. Why is tetrazole formation by addition of azide to organic nitriles catalyzed by zinc(II) salts? Journal of the American Chemical Society 2003 125:9983-9987 DOI:10.1021/ja030204q PMID:12914461
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Himo, F., Demko, Z. P., Noodleman, L., Sharpless, K. B. Mechanisms of tetrazole formation by addition of azide to nitriles Journal of the American Chemical Society 2002 124:12210-12216 DOI:10.1021/ja0206644 PMID:12371861
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Demko, Z. P., Sharpless, K. B. An expedient route to the tetrazole analogues of alpha-amino acids Organic Letters 2002 4:2525-2527 DOI:10.1021/ol020096x PMID:12123367
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Demko, Z. P., Sharpless, K. B. A click chemistry approach to tetrazoles by huisgen 1,3-dipolar cycloaddition: Synthesis of 5-acyltetrazoles from azides and acyl cyanides Angewandte Chemie-International Edition 2002 41:2113-2116 DOI:10.1002/1521-3773(20020617)41:12<2113::aid-anie2113>3.0.co;2-q PMID:19746613
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Demko, Z. P., Sharpless, K. B. A click chemistry approach to tetrazoles by huisgen 1,3-dipolar cycloaddition: Synthesis of 5-sulfonyl tetrazoles from azides and sulfonyl cyanides Angewandte Chemie-International Edition 2002 41:2110-2113 DOI:10.1002/1521-3773(20020617)41:12<2110::aid-anie2110>3.0.co;2-7 PMID:19746612
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Demko, Z. P., Sharpless, K. B. An intramolecular 2+3 cycloaddition route to fused 5-heterosubstituted tetrazoles Organic Letters 2001 3:4091-4094 DOI:10.1021/ol010220x PMID:11735592
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Demko, Z. P., Sharpless, K. B. Preparation of 5-substituted 1h-tetrazoles from nitriles in water Journal of Organic Chemistry 2001 66:7945-7950 DOI:10.1021/jo010635w PMID:11722189
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Demko, Z. P., Bartsch, M., Sharpless, K. B. Primary amides. A general nitrogen source for catalytic asymmetric aminohydroxylation of olefins Organic Letters 2000 2:2221-2223 DOI:10.1021/ol000098m PMID:10930248