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Items: 26


Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Cecchi AC, Vengoechea ES, Kaseniit KE, Hardy MW, Kiger LA, Mehta N, Haque IS, Moyer K, Page PZ, Muzzey D, Grinzaid KA.

Mol Genet Genomic Med. 2019 Aug;7(8):1-12. doi: 10.1002/mgg3.836. Epub 2019 Jul 10.


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.

Clin Genet. 2019 Sep;96(3):236-245. doi: 10.1111/cge.13582. Epub 2019 Jul 1.


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

Beauchamp KA, Taber KAJ, Grauman PV, Spurka L, Lim-Harashima J, Svenson A, Goldberg JD, Muzzey D.

Genet Med. 2019 Oct;21(10):2407-2408. doi: 10.1038/s41436-019-0543-9.


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.

Genet Med. 2019 Apr 30. doi: 10.1038/s41436-019-0525-y. [Epub ahead of print] Erratum in: Genet Med. 2019 May 15;:.


A data-driven evaluation of the size and content of expanded carrier screening panels.

Ben-Shachar R, Svenson A, Goldberg JD, Muzzey D.

Genet Med. 2019 Sep;21(9):1931-1939. doi: 10.1038/s41436-019-0466-5. Epub 2019 Feb 28.


Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management.

Arjunan A, Ben-Shachar R, Kostialik J, Johansen Taber K, Lazarin GA, Denne E, Muzzey D, Haverty C.

Telemed J E Health. 2019 Feb 26. doi: 10.1089/tmj.2018.0253. [Epub ahead of print]


Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen.

Beauchamp KA, Johansen Taber KA, Muzzey D.

Genet Med. 2019 Sep;21(9):1948-1957. doi: 10.1038/s41436-019-0455-8. Epub 2019 Feb 14.


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.

J Mol Diagn. 2019 Mar;21(2):296-306. doi: 10.1016/j.jmoldx.2018.10.002. Epub 2018 Dec 4.


Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens.

Kaseniit KE, Hogan GJ, D'Auria KM, Haverty C, Muzzey D.

BMC Med Genomics. 2018 Oct 19;11(1):90. doi: 10.1186/s12920-018-0410-6.


Clinical utility of expanded carrier screening: results-guided actionability and outcomes.

Johansen Taber KA, Beauchamp KA, Lazarin GA, Muzzey D, Arjunan A, Goldberg JD.

Genet Med. 2019 May;21(5):1041-1048. doi: 10.1038/s41436-018-0321-0. Epub 2018 Oct 11.


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.

BMC Med Genet. 2018 Sep 29;19(1):176. doi: 10.1186/s12881-018-0691-9.


SHRED Is a Regulatory Cascade that Reprograms Ubr1 Substrate Specificity for Enhanced Protein Quality Control during Stress.

Szoradi T, Schaeff K, Garcia-Rivera EM, Itzhak DN, Schmidt RM, Bircham PW, Leiss K, Diaz-Miyar J, Chen VK, Muzzey D, Borner GHH, Schuck S.

Mol Cell. 2018 Jun 21;70(6):1025-1037.e5. doi: 10.1016/j.molcel.2018.04.027. Epub 2018 May 31.


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.

Clin Chem. 2018 Jul;64(7):1063-1073. doi: 10.1373/clinchem.2018.286823. Epub 2018 May 14.


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.

Prenat Diagn. 2017 Jul;37(7):727-728. doi: 10.1002/pd.5071. No abstract available.


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.

Genet Med. 2018 Jan;20(1):55-63. doi: 10.1038/gim.2017.69. Epub 2017 Jun 22.


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.

Prenat Diagn. 2017 May;37(5):482-490. doi: 10.1002/pd.5036. Epub 2017 Apr 26.


Understanding the Basics of NGS: From Mechanism to Variant Calling.

Muzzey D, Evans EA, Lieber C.

Curr Genet Med Rep. 2015;3(4):158-165. Epub 2015 Sep 4. Review.


Genetic influences on translation in yeast.

Albert FW, Muzzey D, Weissman JS, Kruglyak L.

PLoS Genet. 2014 Oct 23;10(10):e1004692. doi: 10.1371/journal.pgen.1004692. eCollection 2014 Oct.


Extensive and coordinated control of allele-specific expression by both transcription and translation in Candida albicans.

Muzzey D, Sherlock G, Weissman JS.

Genome Res. 2014 Jun;24(6):963-73. doi: 10.1101/gr.166322.113. Epub 2014 Apr 14.


A systems-level analysis of perfect adaptation in yeast osmoregulation.

Muzzey D, Gómez-Uribe CA, Mettetal JT, van Oudenaarden A.

Cell. 2009 Jul 10;138(1):160-71. doi: 10.1016/j.cell.2009.04.047.


Quantitative time-lapse fluorescence microscopy in single cells.

Muzzey D, van Oudenaarden A.

Annu Rev Cell Dev Biol. 2009;25:301-27. doi: 10.1146/annurev.cellbio.042308.113408. Review.


The frequency dependence of osmo-adaptation in Saccharomyces cerevisiae.

Mettetal JT, Muzzey D, Gómez-Uribe C, van Oudenaarden A.

Science. 2008 Jan 25;319(5862):482-4. doi: 10.1126/science.1151582.


When it comes to decisions, myeloid progenitors crave positive feedback.

Muzzey D, van Oudenaarden A.

Cell. 2006 Aug 25;126(4):650-2.


Predicting stochastic gene expression dynamics in single cells.

Mettetal JT, Muzzey D, Pedraza JM, Ozbudak EM, van Oudenaarden A.

Proc Natl Acad Sci U S A. 2006 May 9;103(19):7304-9. Epub 2006 Apr 28.


Rapid analysis of the DNA-binding specificities of transcription factors with DNA microarrays.

Mukherjee S, Berger MF, Jona G, Wang XS, Muzzey D, Snyder M, Young RA, Bulyk ML.

Nat Genet. 2004 Dec;36(12):1331-9. Epub 2004 Nov 14.

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