Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population von ROHLFS, Elizabeth M, ZHAOQING ZHOU, SUGARMAN, Elaine A, HEIM, Ruth A, NAGAN, Narasimhan, ROSENBLUM, Lynne S, FLYNN, Kerry, SCHOLL, Thomas, AKMAEV, Viatcheslav R, SIRKO-OSADSA, D. Alexa, ALLITTO, Bernice A

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A Role for Chromosomal Microarray Testing in the Workup of Male Infertility von McIntyre, Kelsey J., Murphy, Elissa, Mertens, Lauren, Dubuc, Adrian M., Heim, Ruth A., Mason-Suares, Heather

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A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing von Zeng, Qiandong, Leach, Natalia T., Zhou, Zhaoqing, Zhu, Hui, Smith, Jean A., Rosenblum, Lynne S., Kenyon, Angela, Heim, Ruth A., Eisenberg, Marcia, Letovsky, Stanley, Okamoto, Patricia M.

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Comparison of pan‐ethnic and ethnic‐based carrier screening panels for individuals of Ashkenazi Jewish descent von Rosenblum, Lynne S., Zhu, Hui, Zhou, Zhaoqing, Teicher, Jennifer, Heim, Ruth A., Leach, Natalia T.

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The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities von Hoffman, Jodi D., Park, Jessica J., Schreiber-Agus, Nicole, Kornreich, Ruth, Tanner, Alice K., Keiles, Steven, Friedman, Kenneth J., Heim, Ruth A.

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Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel von Heim, Ruth A, Sugarman, Elaine A, Allitto, Bernice A

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The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis von Rohlfs, Elizabeth M., Zhou, Zhaoqing, Sugarman, Elaine A., Heim, Ruth A., Pace, Rhonda G., Knowles, Michael R., Silverman, Lawrence M., Allitto, Bernice A.

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Real-world clinical and genomic analysis of patients with a personal or family history of cancer undergoing germline testing for BRCA1 and BRCA2 von Previs, Rebecca A., Ko, Heidi Chwan, Wallen, Zachary D., Strickland, Kyle C., Nesline, Mary K., Noeth, Dagny, Hayden, Melissa, Gardner, Sabrina, Heim, Ruth A., Jensen, Taylor J., Reddy, Prasanth, Severson, Eric A, Ramkissoon, Shakti

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Improved detection of CFTR mutations in Southern California Hispanic CF patients von Wong, Lee-Jun C., Wang, Jianjun, Zhang, Ying-Hua, Hsu, Evelyn, Heim, Ruth A., Bowman, C. Michael, Woo, Marlyn S.

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Improved detection of CFTR mutations in southern California Hispanic CF patients von Wong, Lee-Jun C., Wang, Jianjun, Zhang, Ying-Hua, Hsu, Evelyn, Heim, Ruth A., Bowman, C. Michael, Woo, Marlyn S.

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Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in... von Friedman, Kenneth J., Heim, Ruth A., Knowles, Michael R., Silverman, Lawrence M.

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Simultaneous Detection of Multiple Point Mutations Using Allele‐Specific Oligonucleotides von Napolitano, Nichole M., Rohlfs, Elizabeth M., Heim, Ruth A.

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Screening for truncated NF1 proteins von Heim, Ruth A, Silverman, Lawrence M, Farber, Rosann A, Kam-Morgan, Lauren N.W, Luce, Michael C

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Distribution of 13 truncating mutations in the neurofibromatosis 1 gene von Heim, Ruth A., Kam-Morgan, Lauren N.W., Binnie, Cameron G., Corns, David D., Cayouette, Matthew C., Farber, Rosann A., Aylsworth, Arthur S., Silverman, Lawrence M., Luce, Michael C.

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High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing von Raskin, Salmo, Pereira, Lilian, Reis, Francisco, Rosario, Nelson A, Ludwig, Norberto, Valentim, Lairton, Phillips, 3rd, John A, Allito, Bernice, Heim, Ruth A, Sugarman, Elaine A, Probst, Christian M, Faucz, Fabio, Culpi, Lodercio

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Improved detection ofCFTR mutations in Southern California Hispanic CF patients von Wong, Lee-Jun C., Wang, Jianjun, Zhang, Ying-Hua, Hsu, Evelyn, Heim, Ruth A., Bowman, C. Michael, Woo, Marlyn S.

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MUTATIONS ASSOCIATED WITH CYSTIC FIBROSIS von NAGAN, NARASIMHAN, SIRKO-OSADSA, DEBORAH ALEXA, ROHLFS, ELIZABETH M, ROSENBLUM, LYNNE SARAH, ZHOU, ZHAOQING, HEIM, RUTH A

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Relatively high prevalence of the CFTR mutations, G85E and 1154insTC von Friedman, Kenneth J., Blalock, Michelle L., Heim, Ruth A., Silverman, Lawrence M.

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Nucleotide sequence of a cDNA encoding rat brain carbonic anhydrase II and its deduced amino acid sequence von Stolle, C A, McGowan, M H, Heim, R A, Varia, M, Neubauer, J A

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MUTATIONS ASSOCIATED WITH CYSTIC FIBROSIS von NAGAN, NARASIMHAN, SIRKO-OSADSA, DEBORAH ALEXA, ROHLFS, ELIZABETH M, ROSENBLUM, LYNNE SARAH, ZHOU, ZHAOQING, HEIM, RUTH A

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