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Mark A. Umbarger, Ph.D. - Publications

Affiliations: 
2010 Harvard University, Cambridge, MA, United States 
Area:
Computational Genetics
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13 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2018 Kosheleva K, Velenich A, Sartain C, Faulkner N, Robinson K, Zhu M, Porreca G, Umbarger M. Validation of a next generation sequencing-based preimplantation genetic screening assay for the calling of triploidy and uniparental isodisomy Fertility and Sterility. 109: e54. DOI: 10.1016/j.fertnstert.2018.02.103  0.425
2017 Umbarger M, Boyden E, Faulkner N, Zhu M, Robinson K, Neitzel D, Porreca G. Targeted next generation sequencing-based pgs can enable detection of uniparental isodisomy, familial relationships, and polyploidy Fertility and Sterility. 108: e270. DOI: 10.1016/J.Fertnstert.2017.07.805  0.366
2017 Zhu M, Neitzel D, Umbarger M, Robinson K, Faulkner N. Identification of polyploid embryos using a targeted NGS-based preimplantation genetic screening assay Fertility and Sterility. 108: e269. DOI: 10.1016/J.Fertnstert.2017.07.802  0.424
2016 Umbarger M, Germain K, Gore A, Breton B, Walters-Sen L, Mullen T, Faulkner N. Accurate detection of segmental aneuploidy in preimplantation genetic screening using targeted next-generation DNA sequencing Fertility and Sterility. 106: e152. DOI: 10.1016/J.Fertnstert.2016.07.449  0.514
2016 Gole J, Mullen T, Celia G, Wagner C, Kaplan B, Katz-Jaffe M, Schoolcraft W, Umbarger M. Analytical validation of a novel next-generation sequencing based preimplantation genetic screening technology Fertility and Sterility. 105: e25. DOI: 10.1016/j.fertnstert.2015.12.076  0.369
2014 Hallam S, Nelson H, Greger V, Perreault-Micale C, Davie J, Faulkner N, Neitzel D, Casey K, Umbarger MA, Chennagiri N, Kramer AC, Porreca GJ, Kennedy CJ. Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. The Journal of Molecular Diagnostics : Jmd. 16: 180-9. PMID 24374108 DOI: 10.1016/J.Jmoldx.2013.10.006  0.686
2014 Umbarger MA, Kennedy CJ, Saunders P, Breton B, Chennagiri N, Emhoff J, Greger V, Hallam S, Maganzini D, Micale C, Nizzari MM, Towne CF, Church GM, Porreca GJ. Next-generation carrier screening. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 132-40. PMID 23765052 DOI: 10.1038/Gim.2013.83  0.657
2014 Porreca G, Gole J, Gore A, Umbarger M. Adapting next-generation DNA sequencing to detect aneuploidy Fertility and Sterility. 102: e181-e182. DOI: 10.1016/J.Fertnstert.2014.07.612  0.437
2013 Hoffman JD, Greger V, Strovel ET, Blitzer MG, Umbarger MA, Kennedy C, Bishop B, Saunders P, Porreca GJ, Schienda J, Davie J, Hallam S, Towne C. Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening. Molecular Genetics & Genomic Medicine. 1: 260-8. PMID 24498621 DOI: 10.1002/Mgg3.37  0.674
2013 Hallam S, Breton B, Faulkner N, Kennedy C, Neitzel D, Nizzari M, Porreca G, Saunders P, Umbarger M, Rochelle R, Greger V. Carrier Screening for Cystic Fibrosis among IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations Fertility and Sterility. 99: S35. DOI: 10.1016/J.Fertnstert.2013.01.079  0.615
2013 Greger V, Breton B, Faulkner N, Kennedy C, Neitzel D, Nizzari M, Porreca G, Saunders P, Umbarger M, Rochelle R, Hallam S. Carrier Screening of 4,200 IVF Patients Utilizing Next Generation DNA Sequencing Detects Common, Rare, and Otherwise Undetectable Mutations across Several Diseases Fertility and Sterility. 99: S34-S35. DOI: 10.1016/J.Fertnstert.2013.01.078  0.619
2011 Umbarger MA, Toro E, Wright MA, Porreca GJ, Baù D, Hong SH, Fero MJ, Zhu LJ, Marti-Renom MA, McAdams HH, Shapiro L, Dekker J, Church GM. The three-dimensional architecture of a bacterial genome and its alteration by genetic perturbation. Molecular Cell. 44: 252-64. PMID 22017872 DOI: 10.1016/j.molcel.2011.09.010  0.597
2011 Porreca G, Umbarger M, Kennedy C, Saunders P, Towne C. A novel next-generation DNA sequencing test for detection of disease mutations in carrier and affected individuals Fertility and Sterility. 96: S60. DOI: 10.1016/J.Fertnstert.2011.07.227  0.544
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