Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing von Dar, Pe'er, MD, Curnow, Kirsten J., PhD, Gross, Susan J., MD, Hall, Megan P., PhD, Stosic, Melissa, MS, Demko, Zachary, PhD, Zimmermann, Bernhard, PhD, Hill, Matthew, PhD, Sigurjonsson, Styrmir, PhD, Ryan, Allison, PhD, Banjevic, Milena, PhD, Kolacki, Paula L., MS, Koch, Susan W., MS, Strom, Charles M., MD, PhD, Rabinowitz, Matthew, PhD, Benn, Peter, DSc

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Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory von Strom, Charles M, Rivera, Steven, Elzinga, Christopher, Angeloni, Taraneh, Rosenthal, Sun Hee, Goos-Root, Dana, Siaw, Martin, Platt, Jamie, Braastadt, Cory, Cheng, Linda, Ross, David, Sun, Weimin

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Development and validation of a quantitative, non-invasive, highly sensitive and specific, electrochemical assay for anti-SARS-CoV-2 IgG antibodies in saliva von Chiang, Samantha H., Tu, Michael, Cheng, Jordan, Wei, Fang, Li, Feng, Chia, David, Garner, Omai, Chandrasekaran, Sukantha, Bender, Richard, Strom, Charles M., Wong, David T. W.

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Frequency and Complexity of De Novo Structural Mutation in Autism von Brandler, William M., Antaki, Danny, Gujral, Madhusudan, Noor, Amina, Rosanio, Gabriel, Chapman, Timothy R., Barrera, Daniel J., Lin, Guan Ning, Malhotra, Dheeraj, Watts, Amanda C., Wong, Lawrence C., Estabillo, Jasper A., Gadomski, Therese E., Hong, Oanh, Fajardo, Karin V. Fuentes, Bhandari, Abhishek, Owen, Renius, Baughn, Michael, Yuan, Jeffrey, Solomon, Terry, Moyzis, Alexandra G., Maile, Michelle S., Sanders, Stephan J., Reiner, Gail E., Vaux, Keith K., Strom, Charles M., Zhang, Kang, Muotri, Alysson R., Akshoomoff, Natacha, Leal, Suzanne M., Pierce, Karen, Courchesne, Eric, Iakoucheva, Lilia M., Corsello, Christina, Sebat, Jonathan

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A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer von Li, Yonghong, PhD, Arellano, Andre R., BS, Bare, Lance A., PhD, Bender, Richard A., MD, Strom, Charles M., MD, PhD, Devlin, James J., PhD

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BRCA Share: A Collection of Clinical BRCA Gene Variants von Béroud, Christophe, Letovsky, Stanley I., Braastad, Corey D., Caputo, Sandrine M., Beaudoux, Olivia, Bignon, Yves Jean, Bressac-De Paillerets, Brigitte, Bronner, Myriam, Buell, Crystal M., Collod-Béroud, Gwenaëlle, Coulet, Florence, Derive, Nicolas, Divincenzo, Christina, Elzinga, Christopher D., Garrec, Céline, Houdayer, Claude, Karbassi, Izabela, Lizard, Sarab, Love, Angela, Muller, Danièle, Nagan, Narasimhan, Nery, Camille R., Rai, Ghadi, Revillion, Françoise, Salgado, David, Sévenet, Nicolas, Sinilnikova, Olga, Sobol, Hagay, Stoppa-Lyonnet, Dominique, Toulas, Christine, Trautman, Edwin, Vaur, Dominique, Vilquin, Paul, Weymouth, Katelyn S., Willis, Alecia, Eisenberg, Marcia, Strom, Charles M

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Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS) von Strom, Charles M, Anderson, Ben, Tsao, David, Zhang, Ke, Liu, Yan, Livingston, Kayla, Elzinga, Christopher, Evans, Matthew, Nguyen, Quoclinh, Wolfson, David, Rowland, Charles, Kolacki, Paula, Maxwell, Megan, Wang, Jia-Chi, Rabin, Douglas, Catanese, Joseph, Owen, Renius, Braastad, Corey, Sun, Weimin

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Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory von Strom, Charles M., Goos, Dana, Crossley, Beryl, Zhang, Ke, Buller-Burkle, Arlene, Jarvis, Michael, Quan, Franklin, Peng, Mei, Sun, Weimin

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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel von Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.

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Measurement of cetuximab and panitumumab-unbound serum EGFR extracellular domain using an assay based on slow off-rate modified aptamer (SOMAmer) reagents von Park, Noh Jin, Wang, Xiuqiang, Diaz, Angelica, Goos-Root, Dana M, Bock, Christopher, Vaught, Jonathan D, Sun, Weimin, Strom, Charles M

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Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndr... von Hantash, Feras M., Goos, Dana G., Tsao, David, Quan, Franklin, Buller-Burckle, Arlene, Peng, Mei, Jarvis, Michael, Sun, Weimin, Strom, Charles M.

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Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases von Wang, Jia-Chi, Sahoo, Trilochan, Schonberg, Steven, Kopita, Kimberly A., Ross, Leslie, Patek, Kyla, Strom, Charles M.

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The Kinetics of COVID-19 Vaccine Response in a Community-Vaccinated Population von Tu, Michael K, Chiang, Samantha H, Bender, Richard A, Wong, David T W, Strom, Charles M

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Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis von Strom, Charles M, Maxwell, Megan D, Owen, Renius

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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders von Karbassi, Izabela, Maston, Glenn A., Love, Angela, DiVincenzo, Christina, Braastad, Corey D., Elzinga, Christopher D., Bright, Alison R., Previte, Domenic, Zhang, Ke, Rowland, Charles M., McCarthy, Michele, Lapierre, Jennifer L., Dubois, Felicita, Medeiros, Katelyn A., Batish, Sat Dev, Jones, Jeffrey, Liaquat, Khalida, Hoffman, Carol A., Jaremko, Malgorzata, Wang, Zhenyuan, Sun, Weimin, Buller-Burckle, Arlene, Strom, Charles M., Keiles, Steven B., Higgins, Joseph J.

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Electric Field-Induced Release and Measurement (EFIRM) Characterization and Technical Validation of a Novel Liquid Biopsy Platform in Plasma and Saliva von Tu, Michael, Cheng, Jordan, Chen, Yi-Lin, Jea, Wen-Chien, Chen, Wan-Li, Chen, Chien-Jung, Ho, Chung-Liang, Huang, Wei-Lun, Lin, Chien-Chung, Su, Wu-Chou, Ye, Qianlin, Deignan, Josh, Grody, Wayne, Li, Feng, Chia, David, Wei, Fang, Liao, Wei, Wong, David T. W., Strom, Charles M.

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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility von Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan

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FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremo... von Hantash, Feras M., Goos, Dana M., Crossley, Beryl, Anderson, Ben, Zhang, Ke, Sun, Weimin, Strom, Charles M.

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Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion von Hantash, Feras M, Rebuyon, Arlene, Peng, Mei, Redman, Joy B, Sun, Weimin, Strom, Charles M

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Electric Field–Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment von Wei, Fang, Strom, Charles M., Cheng, Jordan, Lin, Chien-Chung, Hsu, Ching-Yun, Soo Hoo, Guy W., Chia, David, Kim, Yong, Li, Feng, Elashoff, David, Grognan, Tristan, Tu, Michael, Liao, Wei, Xian, Rena, Grody, Wayne W., Su, Wu-Chou, Wong, David T.W.

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