Myriad Genetics provides the following resources in select languages:



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

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

Clinical Experience for Noninvasive Prenatal Screen in Twins

Susan Hancock, MS, CGC and Rotem Ben-Shachar, PhD

Impact Analysis of PVS1 Criteria on Canonical Splice Variant Classifications

Katrina Tanaka, John W. Bisognano, Megan Judkins, Karla Bowles, Krista Moyer, and Heather LaBreche

Addition of novel SNV and Indel identification via next-generation sequencing improves alpha thalassemia detection rate

Genevieve Gould, J. Sherry Wang, Katherine Winters, Aishwarya Arjunan, Robert Chin, Laura Melroy, Dale Muzzey, Katie Johansen Taber, Rotem Ben-Shachar,

Genetic Ancestry Analysis Reveals Limitations of Ethnicity-Based Guidelines for Carrier Screening

Aishwarya Arjunan, MS, MPH, CGC; Rotem Ben-Shachar, PhD; Raul Torres, PhD; Katie Johansen Taber, PhD; Kristjan Eerik Kaseniit, MEng; Dale Muzzey, PhD

Assessing the Consistency of Carrier Screening Guidelines Across Seven Populations and 265,000 Individuals

Summer Pierson, Kristjan Eerik Kaseniit, M Eng; Dale Muzzey, PhD

Clinical Validity Of Expanded Carrier Screening: Evaluating The Gene-Disease Relationship In More Than 200 Conditions

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

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

Manesha Putra, MD, Kristjan Eerik Kaseniit, PhD, Melissa Hicks, MS, Dale Muzzey, PhD, and David Hackney, MD, MS


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

Carrie Haverty, MS, CGC

Rare Adds Up: Characterization of Mosaicism in Expanded Aneuploidy Analysis via Noninvasive Prenatal Screening

Susan Hancock, MS, CGC

Carrier Screening in the Era of Expanding Genetic Technology

James Goldberg, MD


Clinical Impact and Cost Effectiveness of a 176 Condition Expanded Carrier Screen

Kyle A. Beauchamp, PhD; Kenny K. Wong, MS CGC; Katie Johansen Taber, PhD; Gabriel Lazarin, MS CGC; Eric A. Evans, PhD; James D. Goldberg, MD; Dale Muzzey, PhD. ACMG 2018.

Next-Generation Counseling: A Model For Noninvasive Prenatal Screening Results Disclosure and Patient Management

Aishwarya Arjunan, MS, MPH, CGC; Jamie Kostialik, MS, LCGC; Rotem Ben-Shachar, PhD; Beth Denne, MS CGC; Gabriel Lazarin, MS CGC; Carrie Haverty, MS CGC. ACMG 2018.


Counseling Experience with Incidental Cancer Genes in Expanded Carrier Screening

Kenny K Wong, MS CGC; Leslie Bucheit, MS CGC; Kaylene Ready, MS CGC; Elizabeth W Denne, MS CGC; K. Eerik Kaseniit, MEng; Carlo Artieri, PhD, Dale Muzzey, PhD. ASRM 2017.

Is More Better? A Debate on Carrier Screening for the Next Generation

Gabriel Lazarin, MS, CGC, Myriad Women’s Health, Wayne Grody, MD, PhD, UCLA School of Medicine, Janice Edwards, MS, CGC, University of South Carolina. NSGC 2017.

Into the Weeds of NIPS: A Survey of Algorithms for Analysis of Aneuploidies, Fetal Fraction and Microdeletions

Dale Muzzey, PhD, Myriad Women’s Health, John Tynan, PhD, Sequenom. NSGC 2017.

Software-assisted Manual Review of NGS Results as an Alternative to Routine Sanger Sequencing

Dale Muzzey PhD, Kevin R. Haas PhD, Laura Melroy BS, Greg Hogan PhD, Shera Kash PhD, Jillian Johnson MS, Eric Olson BS, Aaron Packer PhD, Peter Krenesky BS, Sanjay Siddhanti MS, Clement S. Chu PhD, Eric A. Evans PhD, Kaylene Ready MS CGC, H. Peter Kang MD.NSGC 2017. NSGC 2017.

NIPS for High BMI Patients: Evaluating the Impact of Deep Whole Genome Sequencing

Carrie E. Haverty M.S. C.G.C., Carlo G. Artieri Ph.D., Kevin M. D’Auria Ph.D., Kevin R. Haas Ph.D., H. Peter Kang M.D., Eric A. Evans Ph.D. and Dale Muzzey Ph.D. NSGC 2017.

Counseling Experience with Incidental Cancer Genes in Expanded Carrier Screening

Kenny K Wong, MS CGC; Leslie Bucheit, MS CGC; Kaylene Ready, MS CGC; Elizabeth W Denne, MS CGC; K. Eerik Kaseniit, MEng; Carlo Artieri, PhD, Dale Muzzey, PhD. NSGC 2017.

The First Trimester Risk Assessment: Methodology Matters

Dale Muzzey, PhD, Myriad Women’s Health, Beth Denne, MS, CGC, Myriad Women’s Health, Sarah Hash, MS, CGC, Maternal-Fetal Medicine Associates of Maryland. NSGC 2017.

1 in 550 pregnancies: using 346,790 expanded carrier screens to estimate the risk of Mendelian conditions.

Haque IS. SMFM 2017.


Clinical utility of expanded carrier screening: Reproductive behaviors of at-risk couples.

Wong KK, Ready K, Lieber C, Goldberg JD, Haque IS, Lazarin GA, Ghiossi C. ASHG 2016.

The frequency of incidental findings in carrier screening.

Wong KK, Lazarin GA, Haque IS. ASRM 2016.

How narrow the divide: Cross-lab concordance for inherited cancer panel genes in ClinVar.

Judkins M, Castiblanco J, Candille S, Beaumont C, Olson E, Evans EA, Haque IS, Kang HP, Mar-Heyming R. NSGC 2016.

Overcoming artificial selection to realize the potential of inherited cancer screening.

Haque IS. AGBT Precision Health 2016.

Clinical utility of expanded carrier screening: reproductive decisions of at-risk carrier couples.

Lazarin GA. ESHG 2016.

The Hexosaminidase A variants of unknown significance (HAVUS) classification project.

E Smith E, Mehta N, Grinzaid K, Hardy M, Lazarin GA, Haque IS. ACMG 2016.

An online results delivery and counseling system may increase access to hereditary cancer testing and genetic counseling.

Ready K, Berentsen K, Denne E, Lazarin GA, Haque IS, Goldberg JD. ACMG 2016.

Where are the patients? Discrepancies between carrier frequencies and live birth incidence.

Lazarin GA. ACMG 2016.


Will the real testing cost please stand up?

Freschi B, Goldenberg S, Martini L. NSGC 2015.

When worlds collide: genetic counseling and testing conundrums in identifying cancer risk for the prenatal, pediatric, and cancer genetic counselor.

Maxwell K, Dubbs H, Ready K. NSGC 2015.

Smith-Lemli-Opitz syndrome is as common in Caucasians and Ashkenazi Jewish as spinal muscular atrophy: accurate carrier frequencies identified through expanded carrier screening.

Lazarin GA, Haque IS, Evans EA, Goldberg JD. NSGC 2015.

Smith-Lemli-Opitz syndrome causes “idiopathic” prenatal lethality: a call for carrier screening.

Lazarin GA. ASRM 2015.

“Rare” disease is common: Results from 388,994 expanded carrier screens of up to 108 genes.

Haque IS. ASRM 2015.

Detection rate for prevalent diseases has greater impact than panel size on the efficacy of expanded carrier screens.

Muzzey D. ASRM 2015.

An NGS-based carrier screen for Congenital Adrenal Hyperplasia with 95% detection rate.

Muzzey D. ASHG 2015.

Everybody mutates: The utility of carrier screening for egg and sperm donors.

Pierson S. AATB 2015.

Incidence of profound and severe diseases greatly exceeds cystic fibrosis: updated data on expanded carrier screening of 311,688 individuals.

Haque IS, Lazarin GA, Raia M, Bellerose H, Evans EA, Goldberg J. ISPD 2015.

Accurate carrier frequency estimates for Smith-Lemli-Opitz syndrome.

Lazarin GA, Haque IS, Evans EA, Goldberg J. ISPD 2015.

Can/Do: the disconnect between what we can and what we do in prenatal care.

Haque IS. ChildX 2015.


Expanded carrier screening: Experience and implementation.

Lazarin GA. Prenatal Molecular Diagnostics Conference 2014.

Laboratories and industry: Depth and variety of genetic counseling career opportunities.

Mitchell E, Conta J, Kotzer K, Ready K, Swanson A, Riggs E, Zaleski C. NSGC 2014.

Update on expanded carrier screening experience and implementation.

Evans EA, Wong K, Lazarin GA. Fetoscopy 2014.

Puppet modules: Apps for ops.

Bronn J. PyCon 2014, Montreal, QC. 11 Apr 2014.

Performance of next-generation sequencing versus targeted genotyping for population carrier screening.

Lazarin GA, Haque IS, Kang HP, Evans EA. ACMG 2014.

Expanded carrier screening: genetic counselors’ perspectives with early clinical availability.

Detweiler S, Lazarin GA, Nazareth SB, Yao X, Seymour C, Ashkinadze E. ACMG 2014.

Don’t worry, we’re from the Internet: Using digital services to realize the promise of genomics for public health.

Haque IS. University of Washington Institute for Public Health Genetics. 21 Jan 2014.


Beyond the dict: Python tools to wrangle data from CSV up.

Haque IS. PyData NYC 2013, New York, NY. 10 Nov 2013.

The worldwide burden of Mendelian disease: Data on 423 variants in 114,879 clinical patients.

Haque IS and Maguire J. Broad Institute, 17 Oct 2013.

Taking population genomics to web scale. Haque IS. cBio @ Memorial Sloan-Kettering Cancer Center.

New York, NY. 13 Jun 2013.

Technology and innovative communication in genetic counseling: beyond telemedicine.

Fecteau H, Ready K, Hazell ADJ. NSGC 2013.

Mapping the undiscovered country — 100,000 pan-ethnic clinical screens: New tools to discover genetic disease.

Haque IS. Association of Clinical Scientists Annual Meeting, 23 May 2013, Boston, MA.

The ART of Genetics: expanded carrier screening.

Lazarin GA. ASRM 2013.

Expanded universal carrier screening.

Lazarin GA. ISPD 2013.

Sequencing makes Moore’s Law look slow: Lessons from Myriad Women's Health’s first 100,000 medical genomes.

Haque IS. Center for Networked Systems at UC San Diego. 15 Jan 2013.


An empirical estimate of carrier frequencies for 100+ recessive diseases: results from an ethnically diverse clinical sample of 25,000 individuals.

Lazarin GA, Srinivasan BS, Evans EA. ACMG 2012.

Pan-ethnic expanded carrier screening.

Nazareth SB, Lazarin GA, Flanagan J, Moyer K. NSGC 2012.


Ethnicity based carrier screening for Ashkenazi Jewish diseases using ACOG or ACMG guidelines: what are we missing?

Lazarin GA, Wong K, Nazareth SB, Ready K, Marshall J. NSGC 2011.


Clinical utility and practical considerations of high-throughput carrier screening.

Ashkinadze E, Gonzalez K, Keiles S, Lazarin GA, Seymour C, Srinivasan R. NSGC 2010.