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1

Noninvasive Prenatal Testing (NIPT) || Understanding the Basics of NGS in the Context of NIPT

Année:

2018

Langue:

english

Fichier:

PDF, 1.90 MB

english, 2018

2

Noninvasive Prenatal Testing (NIPT) || The Technology and Bioinformatics of Cell-Free DNA-Based NIPT

Année:

2018

Langue:

english

Fichier:

PDF, 2.11 MB

english, 2018

3

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

Mukherjee, Sonali, Berger, Michael F, Jona, Ghil, Wang, Xun S, Muzzey, Dale, Snyder, Michael, Young, Richard A, Bulyk, Martha L

Journal:

Nature Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 556 KB

english, 2004

4

Quantitative Time-Lapse Fluorescence Microscopy in Single Cells

Muzzey, Dale, van Oudenaarden, Alexander

Journal:

Annual Review of Cell and Developmental Biology

Année:

2009

Langue:

english

Fichier:

PDF, 2.71 MB

english, 2009

5

When It Comes to Decisions, Myeloid Progenitors Crave Positive Feedback

Dale Muzzey, Alexander van Oudenaarden

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 299 KB

english, 2006

6

A Systems-Level Analysis of Perfect Adaptation in Yeast Osmoregulation

Dale Muzzey, Carlos A. Gómez-Uribe, Jerome T. Mettetal, Alexander van Oudenaarden

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 2.18 MB

english, 2009

7

Assembly of a phased diploidCandida albicansgenome facilitates allele-specific measurements and provides a simple model for repeat and indel structure

Muzzey, Dale, Schwartz, Katja, Weissman, Jonathan S, Sherlock, Gavin

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2013

8

Genetic Influences on Translation in Yeast

Albert, Frank W., Muzzey, Dale, Weissman, Jonathan S., Kruglyak, Leonid, Brem, Rachel B.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 2.28 MB

english, 2014

9

Understanding the Basics of NGS: From Mechanism to Variant Calling

Muzzey, Dale, Evans, Eric A., Lieber, Caroline

Journal:

Current Genetic Medicine Reports

Année:

2015

Langue:

english

Fichier:

PDF, 2.36 MB

english, 2015

10

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

Artieri, Carlo G., Haverty, Carrie, Evans, Eric A., Goldberg, James D., Haque, Imran S., Yaron, Yuval, Muzzey, Dale

Journal:

Prenatal Diagnosis

Année:

2017

Langue:

english

Fichier:

PDF, 1.32 MB

english, 2017

11

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

Muzzey, Dale, Haverty, Carrie, Evans, Eric A., Goldberg, James D.

Journal:

Prenatal Diagnosis

Année:

2017

Langue:

english

Fichier:

PDF, 53 KB

english, 2017

12

Systematic design and comparison of expanded carrier screening panels

Beauchamp, Kyle A, Muzzey, Dale, Wong, Kenny K, Hogan, Gregory J, Karimi, Kambiz, Candille, Sophie I, Mehta, Nikita, Mar-Heyming, Rebecca, Kaseniit, K. Eerik, Kang, H. Peter, Evans, Eric A, Goldberg,

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 628 KB

english, 2017

13

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

Szoradi, Tamas, Schaeff, Katharina, Garcia-Rivera, Enrique M., Itzhak, Daniel N., Schmidt, Rolf M., Bircham, Peter W., Leiss, Kevin, Diaz-Miyar, Juan, Chen, Vivian K., Muzzey, Dale, Borner, Georg H.H.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.93 MB

english, 2018

14

Reclassification of common variants of unknown significance in the hexosaminidase A gene: Implications for Tay-Sachs disease carrier screening

Smith, Elizabeth D., Grinzaid, Karen A., Hardy, Melanie, Cecchi, Alana, Kiger, Laura, Muzzey, Dale, Kaseniit, Eerik, Moyer, Krista

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 52 KB

english, 2018

15

259: Copy number variant calling on a 176-disease expanded carrier screening panel

Muzzey, Dale, Beauchamp, Kyle A., Grauman, Peter, Hogan, Gregory J., Haas, Kevin R., Gould, Genevieve M., Wong, Kenny K., Lazarin, Gabriel, Evans, Eric A.

Journal:

American Journal of Obstetrics and Gynecology

Année:

2018

Langue:

english

Fichier:

PDF, 433 KB

english, 2018

16

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

Johansen Taber, Katherine A., Beauchamp, Kyle A., Lazarin, Gabriel A., Muzzey, Dale, Arjunan, Aishwarya, Goldberg, James D.

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 456 KB

english, 2018

17

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

Kaseniit, Kristjan Eerik, Hogan, Gregory J, D’Auria, Kevin M, Haverty, Carrie, Muzzey, Dale

Journal:

BMC Medical Genomics

Année:

2018

Langue:

english

Fichier:

PDF, 2.41 MB

english, 2018

18

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, Dale, Kash, Shera, Johnson, Jillian I., Melroy, Laura M., Kaleta, Piotr, Pierce, Kelly A., Ready, Kaylene, Kang, Hyunseok P., Haas, Kevin R.

Journal:

The Journal of Molecular Diagnostics

Année:

2018

Langue:

english

Fichier:

PDF, 2.37 MB

english, 2018

19

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

Beauchamp, Kyle A., Johansen Taber, Katherine A., Muzzey, Dale

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 938 KB

english, 2019

20

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

Ben-Shachar, Rotem, Svenson, Ashley, Goldberg, James D., Muzzey, Dale

Journal:

Genetics in Medicine

Année:

2019

Fichier:

PDF, 1.22 MB

2019

21

923: Avoiding trade-offs: Clinical experience for noninvasive prenatal screen with low no-call rate and high accuracy

Hancock, Susan E., Ben-Shachar, Rotem, Adusei, Christa, Haverty, Carrie, Muzzey, Dale

Journal:

American Journal of Obstetrics and Gynecology

Année:

2019

Fichier:

PDF, 501 KB

2019

22

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

Ben-Shachar, Rotem, Svenson, Ashley, Goldberg, James D., Muzzey, Dale

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2019

23

915: Clarity from discordance: Leveraging fetal fraction reduces false positives in noninvasive prenatal screening

Ben-Shachar, Rotem, Meredith, Matthew M., Muzzey, Dale, Haverty, Carrie, Hogan, Greg

Journal:

American Journal of Obstetrics and Gynecology

Année:

2019

Langue:

english

Fichier:

PDF, 294 KB

english, 2019

24

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

Beauchamp, Kyle A., Johansen Taber, Katherine A., Grauman, Peter V., Spurka, Lindsay, Lim-Harashima, Jeraldine, Svenson, Ashley, Goldberg, James D., Muzzey, Dale

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 815 KB

english, 2019

25

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

Beauchamp, Kyle A., Johansen Taber, Katherine A., Grauman, Peter V., Spurka, Lindsay, Lim-Harashima, Jeraldine, Svenson, Ashley, Goldberg, James D., Muzzey, Dale

Journal:

Genetics in Medicine

Année:

2019

Fichier:

PDF, 815 KB

2019

26

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

Beauchamp, Kyle A., Taber, Katherine A. Johansen, Grauman, Peter V., Spurka, Lindsay, Lim-Harashima, Jeraldine, Svenson, Ashley, Goldberg, James D., Muzzey, Dale

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 447 KB

english, 2019

27

876: Education and genetic counseling in the era of expanding genetic technology

Arjunan, Aishwarya, Ben-Shachar, Rotem, Kostialik, Jamie, Taber, Katherine Johansen, Lazarin, Gabriel, Denne, Elizabeth, Muzzey, Dale, Haverty, Carrie

Journal:

American Journal of Obstetrics and Gynecology

Année:

2019

Fichier:

PDF, 315 KB

2019

28

886: Detection of copy-number variants in expanded carrier screening maximizes identification of cystic fibrosis carriers

Muzzey, Dale, Grauman, Peter V., Spurka, Lindsay, Beauchamp, Kyle A.

Journal:

American Journal of Obstetrics and Gynecology

Année:

2019

Fichier:

PDF, 334 KB

2019

29

916: A data-driven approach for determining optimal content for expanded carrier screening panels

Ben-Shachar, Rotem, Svenson, Ashley, Muzzey, Dale

Journal:

American Journal of Obstetrics and Gynecology

Année:

2019

Fichier:

PDF, 662 KB

2019

30

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

Cecchi, Alana C., Vengoechea, Elizabeth S., Kaseniit, Kristjan E., Hardy, Melanie W., Kiger, Laura A., Mehta, Nikita, Haque, Imran S., Moyer, Krista, Page, Patricia Z., Muzzey, Dale, Grinzaid, Karen A

Journal:

Molecular Genetics & Genomic Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2019

31

Avoiding Unnecessary Disparities in Care: Evaluating Noninvasive Prenatal Screening Performance via Whole Genome Sequencing Across Classes of Obesity

Haverty, Carrie E., Muzzey, Dale

Journal:

Journal of Midwifery & Women's Health

Année:

2019

Langue:

english

Fichier:

PDF, 89 KB

english, 2019

32

Clinical experience across the fetal‐fraction spectrum for a non‐invasive prenatal screen with low test‐failure rate

Hancock, Susan, Ben‐Shachar, Rotem, Adusei, Christa, Oyolu, Chuba B., Evans, Eric A., Kang, Hyunseok P., Haverty, Carrie, Muzzey, Dale

Journal:

Ultrasound in Obstetrics & Gynecology

Année:

2019

Langue:

english

Fichier:

PDF, 3.70 MB

english, 2019

33

Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk

Muzzey, Dale, Goldberg, James D., Haverty, Carrie

Journal:

Prenatal Diagnosis

Année:

2019

Langue:

english

Fichier:

PDF, 1.62 MB

english, 2019

34

Avoiding Unnecessary Disparities in Care: Evaluating Noninvasive Prenatal Screening Performance via Whole Genome Sequencing Across Classes of Obesity

Haverty, Carrie E., Muzzey, Dale

Journal:

Journal of Midwifery & Women's Health

Année:

2019

Fichier:

PDF, 89 KB

2019

35

251: NIPS for high BMI patients: Evaluating the impact of deep whole genome sequencing on sensitivity and residual risk

Muzzey, Dale, Haverty, Carrie E., Artieri, Carlo G., D'Auria, Kevin M., Haas, Kevin R., Kang, H. Peter, Evans, Eric A.

Journal:

American Journal of Obstetrics and Gynecology

Année:

2018

Langue:

english

Fichier:

PDF, 339 KB

english, 2018

36

Letter to the Editor

Hannouf, Malek B, Muzzey, Dale, Kronenwett, Ralf, Lancaster, Johnathan M

Journal:

Journal of Comparative Effectiveness Research

Année:

2019

Langue:

english

Fichier:

PDF, 853 KB

english, 2019

37

Sequencing-Based Carrier Screening for Cystic Fibrosis

Beauchamp, Kyle, Grauman, Peter, Spurka, Lindsay, Lim-Harashima, Jeraldine, Muzzey, Dale

Journal:

Obstetrics & Gynecology

Année:

2019

Langue:

english

Fichier:

PDF, 99 KB

english, 2019

38

A Data-Driven Evaluation of the Size and Content of Expanded Carrier Screening Panels [1M]

Ben-Shachar, Rotem, Svenson, Ashley, Muzzey, Dale

Journal:

Obstetrics & Gynecology

Année:

2019

Fichier:

PDF, 80 KB

2019

39

Sequencing-Based Carrier Screening for Cystic Fibrosis

Beauchamp, Kyle, Grauman, Peter, Spurka, Lindsay, Lim-Harashima, Jeraldine, Muzzey, Dale

Journal:

Obstetrics & Gynecology

Année:

2019

Fichier:

PDF, 99 KB

2019

40

Clinical Utility of Expanded Carrier Screening

Johansen Taber, Katherine A., Beauchamp, Kyle A., Lazarin, Gabriel A., Muzzey, Dale, Arjunan, Aishwarya, Goldberg, James D.

Journal:

Obstetric and Gynecologic Survey

Année:

2019

Langue:

english

Fichier:

PDF, 78 KB

english, 2019

41

78: The association of maternal HBB pathogenic variant status and fetal fraction in non-invasive prenatal screening

Putra, Manesha, Kaseniit, Kristjan Eerik, Hicks, Melissa, Muzzey, Dale, Hackney, David

Journal:

American Journal of Obstetrics and Gynecology

Année:

2020

Fichier:

PDF, 923 KB

2020

42

Clinical validity of expanded carrier screening: evaluating the geneâdisease relationship in more than 200 conditions

Balzotti, Marie, Meng, Linyan, Muzzey, Dale, Taber, Katherine Johansen, Beauchamp, Kyle, MarâHeyming, Rebecca, Buckley, Bethany, Moyer, Krista

Journal:

Année:

2020

Fichier:

PDF, 213 KB

2020

43

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

Kaseniit, Kristjan E., Haque, Imran S., Goldberg, James D., Shulman, Lee P., Muzzey, Dale

Journal:

Genetics in Medicine

Année:

2020

Fichier:

PDF, 1.52 MB

2020

44

Cover, Volume 41, Issue 8

Balzotti, Marie, Meng, Linyan, Muzzey, Dale, Johansen Taber, Katherine, Beauchamp, Kyle, Curation Team, Myriad Genetics, Curation Team, Baylor Genetics, MarâHeyming, Rebecca, Buckley, Bethany, Moyer

Journal:

Année:

2020

Fichier:

PDF, 5.24 MB

2020

45

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

Welker, Noah C., Lee, Albert K., Kjolby, Rachel A. S., Wan, Helen Y., Theilmann, Mark R., Jeon, Diana, Goldberg, James D., Haas, Kevin R., Muzzey, Dale, Chu, Clement S.

Journal:

Genetics in Medicine

Année:

2020

Fichier:

PDF, 2.31 MB

2020