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

Molecular Genetics and Genomic Medicine (2019) DOI: C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid

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

Genetics in Medicine (2019) DOI: Kyle A. Beauchamp PhD, Katherine A. Johansen Taber PhD, Peter V. Grauman BS, Lindsay Spurka BA, Jeraldine Lim-Harashima MS CGC, Ashley Svenson MS CGC, James D. Goldberg MD & Dale Muzzey PhD

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

Clinical Genetics (2019) DOI: Kristjan E. Kaseniit, Elizabeth Collins, Christine Lo, Krista Moyer, Rebecca Mar‐Heyming Hyunseok P. Kang, Dale Muzzey

A Data-Driven Evaluation of the Size and the Content of Expanded Carrier Screening Panels

Genetics in Medicine (2019) DOI: 10.1038/s41436-019-0466-5
Ben-Shachar R, Svenson A, Goldberg JD, Muzzey D.

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

Genetics in Medicine (2019) DOI: 10.1038/s41436-019-0455-8
Beauchamp KA, Johansen-Taber KA, Muzzey D.

Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management

Telemedicine and e-Health (2019) DOI: 10.1089/tmj.2018.0253
Arjunan A, Ben-Shachar R, Kostialik J, Johansen-Taber K, Lazarin GA, Denne E, Muzzey D, Haverty C.

Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders

Genetics in Medicine (2019) DOI: 10.1038/s41436-018-0430-9.  Ready K, Johansen Taber KA, Bonhomme N, Lichtenfeld JL.

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

Ultrasound in Obstetrics and Gynecology (2019) DOI: 10.1002/uog.21904. Susan Hancock MS CGC, Rotem Ben‐Shachar PhD, Christa Adusei MS CGC, Chuba B. Oyolu PhD, Eric A. Evans PhD, Hyunseok P. Kang MD, Carrie Haverty MS CGC, Dale Muzzey PhD

Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines

Molecular Genetics & Genomic Medicine (2019) Katherine Johansen Taber, Jeraldine Lim‐Harashima, Harris Naemi, Jim Goldberg

Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations

Cancer (2019) Valentina Vysotskaia PhD, K. Eerik Kaseniit MEng, Leslie Bucheit MS, CGC, Kaylene Ready MS, CGC, Kristin Price MS, CGC, Katherine Johansen Taber PhD


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

Clinical Chemistry 64:7 (2018) DOI: 10.1373/clinchem.2018.286823.
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

Inherited cancer in the age of next-generation sequencing

Biological Research for Nursing 20(2): 192-204 (March 2018)
Price KS, Svenson A, King E, Ready K, Lazarin GA

Validation of a Digital Identification Tool for Individuals at Risk for Hereditary Cancer Syndromes

Hereditary Cancer in Clinical Practice (2019) 17:2. Bucheit L, Johansen Taber K, Ready K.

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

BMC Medical Genetics 19:176 (2018) Gould G, Grauman P, Theilmann M, Spurka L, Wang I, Melroy L, Chin R, Hite D, Chu C, Maguire J, Hogan G, Muzzey D

Clinical Utility of Expanded Carrier Screening: Results-Guided Actionability and Outcomes

Genetics in Medicine (2018) doi: 10.1038/s41436-018-0321-0. Johansen Taber K , Beauchamp K, Lazarin G, Muzzey D , Arjunan A, Goldberg J

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

BMC Medical Genomics 11:90 (2018) Kaseniit KE, Hogan G, D’Auria K, Haverty C, Muzzey


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

Prenatal Diagnosis doi: 10.1002/pd.503 (2017)
Artieri CG, Haverty C, Evans EA, Goldberg JD, Haque IS, Yaron Y, and Muzzey D
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Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.

PeerJ 5:e3046 (2017)
Vysotskaia VS, Hogan GJ, Gould GM, Wang X, Robertson AD, Haas KR, Theilmann MR, Spurka L, Grauman PV, Lai HH, Jeon D, Haliburton G, Leggett M, Chu CS, Iori K, Maguire JR, Ready K, Evans EA, Kang HP, Haque IS.

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Prenatal Diagnosis 37(4):350-355 (2017)
Lazarin GA, Haque IS, Evans EA, Goldberg JD.

Systematic design and comparison of expanded carrier screening panels.

Genetics in Medicine (2017)
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.

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

Journal of Genetic Counseling. September 27 2017; doi:10.1007/s10897-017-0160-1
Ghiossi C, Goldberg, JD, Haque IS, et al.


Re: Carrier screening is a deficient strategy for determining sperm donor eligibility and reducing risk of disease in recipient children.

Genetic Testing and Molecular Biomarkers 20(8), 413–414 (2016)
(From: Silver AJ, Larson JL, Silver MJ, et al.) Wong KK, Goldberg JD, Evans EA, Kang HP, Haque IS.

Modeled fetal risk of genetic diseases identified by expanded carrier screening.

Journal of the American Medical Association 316(7):734-742 (2016)
Haque IS, Lazarin GA, Kang HP, Evans EA, Goldberg JD, Wapner RJ.
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Group testing approach for Trinucleotide Repeat Expansion Disorder screening.

Clinical Chemistry 62(10):1401-1408 (2016)
Kaseniit KE, Theilmann MR, Robertson A, Evans EA, Haque IS.

Tay-Sachs carrier screening by enzyme and molecular analyses in the New York City minority population.

Genetic Testing and Molecular Biomarkers 20(9): 504-509 (2016)
Mehta N, Lazarin GA, Spiegel E, Berentsen K, Brennan K, Giordano J, Haque IS, Wapner R.

Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.

PeerJ 4:e2162; 28 (June 2016)
Kang HP, Maguire JR, Chu CS, Haque IS, Lai H, Mar-Heyming R, Ready K, Vysotskaia VS, Evans EA.

Carrier screening in the era of expanding genetic technology.

Genetics in Medicine 18(12):1214-1217 (2016)
Arjunan A, Litwack K, Collins N, Charrow J.

Current controversies in traditional and expanded carrier screening.

Current Opinion in Obstetrics & Gynecology 28(2):136-41 (April 2016)
Lazarin GA, Goldberg JD.

Genetic counselors in startup companies: Redefining the genetic counselor role.

Journal of Genetic Counseling 25: 649 (2016)
Rabideau MM, Wong K, Gordon ES, Ryan L.

Expanded carrier screening: A review of early implementation and literature.

Seminars in Perinatology 40(1):29-34. (February 2016)
Lazarin GA, Haque IS.

Genetic counselors’ perspectives and practices regarding expanded carrier screening after initial clinical availability.

Journal of Genetic Counseling 25(2):395-404 (April 2016)
Lazarin GA, Detweiler S, Nazareth SB, Ashkinadze E.


Changing trends in carrier screening for genetic disease in the United States.

Prenatal Diagnosis 2015(35): 1-5.
Nazareth SB, Lazarin GA, Goldberg JD.

Understanding the basics of NGS: From mechanism to variant calling.

Current Genetic Medicine Reports 3(4): 158–165. (2015)
Muzzey D, Evans EA, Lieber C.


Systematic classification of disease severity for evaluation of expanded carrier screening panels.

PLoS ONE 9(12):e114391 (2014)
Lazarin GA, Hawthorne F, Collins NS, Platt EA, Evans EA, Haque IS.


Response to Stoll and Resta.

Genetics in Medicine 15:319-320 (2013)
Lazarin GA, Haque IS, Nazareth S, Evans EA.

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics in Medicine 15:178-186 (2013)
Lazarin GA, Haque IS, Nazareth S, Iori K, Patterson AS, Jacobson JL, Marshall JR, Seltzer WK, Patrizio P, Evans EA, Srinivasan BS.

Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.

Genetic Testing and Molecular Biomarkers 17:1-5 (2013)
Klugman S, Scheiber-Agus N, Nazareth S, Evans EA.


Knowledge and attitudes regarding expanded genetic carrier screening among women’s healthcare providers.

Fertility and Sterility 97:407-413 (2012)
Ready K, Haque IS, Srinivasan BS, Marshall JR.


Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental-targeted screening test.

American Journal of Medical Genetics Part A 155:3136-3138 (2011)
Lacassie Y, Storment JM, Lazarin GA.


A universal carrier test for the long tail of Mendelian disease.

Reproductive Biomedicine Online 21:537-551 (2010)
Srinivasan BS, Evans EA, Flannick JF, Patterson AS, Chang CC, Pham T, Young S, Kaushal A, Lee J, Jacobson JL, Patrizio P.