Muzzey D - Search Results

1

Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data: An Alternative to Routine Sanger Sequencing Confirmation with Equivalent Results in >15,000 Germline DNA Screens.

Muzzey D, Kash S, Johnson JI, Melroy LM, Kaleta P, Pierce KA, Ready K, Kang HP, Haas KR. Muzzey D, et al. J Mol Diagn. 2019 Mar;21(2):296-306. doi: 10.1016/j.jmoldx.2018.10.002. Epub 2018 Dec 4. J Mol Diagn. 2019. PMID: 30529126 Free article.

2

Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods.

Artieri CG, Haverty C, Evans EA, Goldberg JD, Haque IS, Yaron Y, Muzzey D. Artieri CG, et al. Among authors: muzzey d. Prenat Diagn. 2017 May;37(5):482-490. doi: 10.1002/pd.5036. Epub 2017 Apr 26. Prenat Diagn. 2017. PMID: 28317136

3

Systematic design and comparison of expanded carrier screening panels.

Beauchamp KA, Muzzey D, Wong KK, Hogan GJ, Karimi K, Candille SI, Mehta N, Mar-Heyming R, Kaseniit KE, Kang HP, Evans EA, Goldberg JD, Lazarin GA, Haque IS. Beauchamp KA, et al. Among authors: muzzey d. Genet Med. 2018 Jan;20(1):55-63. doi: 10.1038/gim.2017.69. Epub 2017 Jun 22. Genet Med. 2018. PMID: 28640244 Free PMC article.

4

Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.

Hogan GJ, Vysotskaia VS, Beauchamp KA, Seisenberger S, Grauman PV, Haas KR, Hong SH, Jeon D, Kash S, Lai HH, Melroy LM, Theilmann MR, Chu CS, Iori K, Maguire JR, Evans EA, Haque IS, Mar-Heyming R, Kang HP, Muzzey D. Hogan GJ, et al. Among authors: muzzey d. Clin Chem. 2018 Jul;64(7):1063-1073. doi: 10.1373/clinchem.2018.286823. Epub 2018 May 14. Clin Chem. 2018. PMID: 29760218

5

Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.

Gould GM, Grauman PV, Theilmann MR, Spurka L, Wang IE, Melroy LM, Chin RG, Hite DH, Chu CS, Maguire JR, Hogan GJ, Muzzey D. Gould GM, et al. Among authors: muzzey d. BMC Med Genet. 2018 Sep 29;19(1):176. doi: 10.1186/s12881-018-0691-9. BMC Med Genet. 2018. PMID: 30268105 Free PMC article.

6

Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Beauchamp KA, Johansen Taber KA, Grauman PV, Spurka L, Lim-Harashima J, Svenson A, Goldberg JD, Muzzey D. Beauchamp KA, et al. Among authors: muzzey d. Genet Med. 2019 Nov;21(11):2569-2576. doi: 10.1038/s41436-019-0525-y. Epub 2019 Apr 30. Genet Med. 2019. PMID: 31036917 Free PMC article.

7

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Kaseniit KE, Collins E, Lo C, Moyer K, Mar-Heyming R, Kang HP, Muzzey D. Kaseniit KE, et al. Among authors: muzzey d. Clin Genet. 2019 Sep;96(3):236-245. doi: 10.1111/cge.13582. Epub 2019 Jul 1. Clin Genet. 2019. PMID: 31170325 Free PMC article.

8

Clinical experience across the fetal-fraction spectrum of a non-invasive prenatal screening approach with low test-failure rate.

Hancock S, Ben-Shachar R, Adusei C, Oyolu CB, Evans EA, Kang HP, Haverty C, Muzzey D. Hancock S, et al. Among authors: muzzey d. Ultrasound Obstet Gynecol. 2020 Sep;56(3):422-430. doi: 10.1002/uog.21904. Ultrasound Obstet Gynecol. 2020. PMID: 31671482 Free PMC article.

9

High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening.

Welker NC, Lee AK, Kjolby RAS, Wan HY, Theilmann MR, Jeon D, Goldberg JD, Haas KR, Muzzey D, Chu CS. Welker NC, et al. Among authors: muzzey d. Genet Med. 2021 Mar;23(3):443-450. doi: 10.1038/s41436-020-01009-5. Epub 2020 Nov 15. Genet Med. 2021. PMID: 33190143 Free PMC article.

10

Response to "Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods".

Muzzey D, Haverty C, Evans EA, Goldberg JD. Muzzey D, et al. Prenat Diagn. 2017 Jul;37(7):727-728. doi: 10.1002/pd.5071. Prenat Diagn. 2017. PMID: 28675624 Free PMC article. No abstract available.

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