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Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes
JAMA Netw Open. 2020;3(7):e208501. doi:10.1001/jamanetworkopen.2020.850. Gallagher S, Hughes E, Wagner S, et al.
Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant
DOI: 10.1200/PO.20.00118 JCO Precision Oncology no. 4 (2020) 730-735. Published online June 24, 2020.
No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing
DOI: 10.1200/PO.19.00271 JCO Precision Oncology no. 4 (2020) 51-60. Published online February 7, 2020.
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.
Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk
DOI: 10.1200/PO.19.00360 JCO Precision Oncology no. 4 (2020) 585-592. Published online June 8, 2020
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) https://doi.org/10.1002/cncr.32572 Valentina Vysotskaia PhD, K. Eerik Kaseniit MEng, Leslie Bucheit MS, CGC, Kaylene Ready MS, CGC, Kristin Price MS, CGC, Katherine Johansen Taber PhD
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) https://doi.org/10.1186/s12881-018-0691-9 Gould G, Grauman P, Theilmann M, Spurka L, Wang I, Melroy L, Chin R, Hite D, Chu C, Maguire J, Hogan G, Muzzey D
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.
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.
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.
Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk
Elisha Hughes, PhD; Placede Tshiaba, MS; Shannon Gallagher, MPH; Susanne Wagner, PhD; Thaddeus Judkins, MS; Benjamin Roa, PhD; Eric Rosenthal, PhD, MS; Susan Domchek, MD; Judy Garber, MD, MPH; Johnathan Lancaster, MD, PhD; Jeffrey Weitzel, MD; Allison W. Kurian, MD, MSc; Jerry S. Lanchbury, PhD; Alexander Gutin, PhD; and Mark Robson, MD
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines
Kaseniit, K.E., Haque, I.S., Goldberg, J.D. et al. Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines. Genet Med 22, 1694–1702 (2020). https://doi.org/10.1038/s41436-020-0869-3
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
Arjunan, A, Bellerose, H, Torres, R, et al. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel. Prenatal Diagnosis. 2020; 40: 1246– 1257. https://doi.org/10.1002/pd.5762
Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions
Human Mutation. 2020; 41: 1365– 1371. https://doi.org/10.1002/humu.24033. 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.
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: https://doi.org/10.1002/mgg3.836Alana 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: https://doi.org/10.1038/s41436-019-0525-y. 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: https://doi.org/10.1111/cge.13582. 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/s41436-019-0466-5Ben-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/s41436-019-0455-8Beauchamp KA, Johansen-Taber KA, Muzzey D.
Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines
Molecular Genetics & Genomic Medicine (2019) https://doi.org/10.1002/mgg3.1024 Katherine Johansen Taber, Jeraldine Lim‐Harashima, Harris Naemi, Jim Goldberg
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
Clinical utility of expanded carrier screening: results-guided actionability and outcomes
Johansen Taber, K.A., Beauchamp, K.A., Lazarin, G.A. et al. Clinical utility of expanded carrier screening: results-guided actionability and outcomes. Genet Med 21, 1041–1048 (2019). https://doi.org/10.1038/s41436-018-0321-0
Systematic design and comparison of expanded carrier screening panels
Beauchamp, K., Muzzey, D., Wong, K. et al. Systematic design and comparison of expanded carrier screening panels. Genet Med 20, 55–63 (2018). https://doi.org/10.1038/gim.2017.69
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At‐Risk Couples
Ghiossi, C.E., Goldberg, J.D., Haque, I.S., Lazarin, G.A. and Wong, K.K. (2018), Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At‐Risk Couples. J Genet Counsel, 27: 616-625. doi:10.1007/s10897-017-0160-1
Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates
Lazarin, G. A., Haque, I. S., Evans, E. A., and Goldberg, J. D. (2017) Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates. Prenat Diagn, 37: 350– 355. doi: 10.1002/pd.5018.
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.
Prenatal Carrier Screening
Haque IS, Lazarin GA, Wapner RJ. Prenatal Carrier Screening. JAMA. 2016;316(24):2675–2676. doi:10.1001/jama.2016.17401
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.
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.
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
ournal 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.
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
Lazarin, G., Haque, I., Nazareth, S. et al. Response to Stoll and Resta. Genet Med 15, 319–320 (2013). https://doi.org/10.1038/gim.2013.19
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.
Evaluating the efficacy of three carrier screening workflows designed to identify at‐risk carrier couples
Aishwarya Arjunan, Raul Torres, Anna Gardiner, Kristjan Eerik Kaseniit, Jeff Wootton, Rotem Ben‐Shachar, Katherine Johansen Taber
Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management
Telemedicine and e-Health (2019) DOI: 10.1089/tmj.2018.0253Arjunan A, Ben-Shachar R, Kostialik J, Johansen-Taber K, Lazarin GA, Denne E, Muzzey D, Haverty C.
Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations”
Johansen Taber, K., Haverty, C., Hancock, S. et al. Inaccuracies and shortcomings in “Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations”. Genet Med 21, 2658–2659 (2019). https://doi.org/10.1038/s41436-019-0555-5
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
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) https://doi.org/10.1186/s12920-018-0410- 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
Artieri, C. G., Haverty, C., Evans, E. A., Goldberg, J. D., Haque, I. S., Yaron, Y., and Muzzey, D. (2017) Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods. Prenat Diagn, 37: 482– 490. doi: 10.1002/pd.5036.
High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening
Noah C. Welker PhD, Albert K. Lee PhD, Rachel A. S. Kjolby PhD, Helen Y. Wan BS, MBA, Mark R. Theilmann AB, Diana Jeon BA, James D. Goldberg MD, Kevin R. Haas PhD, Dale Muzzey PhD & Clement S. Chu PhD
Fetal screening and whole genome sequencing: where are the limits?
Susan Hancock, Katherine Johansen Taber, James D. Goldberg