Search Results - "Theilmann, Mark R"

High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening by Welker, Noah C., Lee, Albert K., Kjolby, Rachel A. S., Wan, Helen Y., Theilmann, Mark R., Jeon, Diana, Goldberg, James D., Haas, Kevin R., Muzzey, Dale, Chu, Clement S.

“…Purpose The percentage of a maternal cell-free DNA (cfDNA) sample that is fetal-derived (the fetal fraction; FF) is a key driver of the sensitivity and…”
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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 by Gould, Genevieve M, Grauman, Peter V, Theilmann, Mark R, Spurka, Lindsay, Wang, Irving E, Melroy, Laura M, Chin, Robert G, Hite, Dustin H, Chu, Clement S, Maguire, Jared R, Hogan, Gregory J, Muzzey, Dale

“…Hereditary cancer screening (HCS) for germline variants in the 3' exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically…”
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Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment by Vysotskaia, Valentina S, Hogan, Gregory J, Gould, Genevieve M, Wang, Xin, Robertson, Alex D, Haas, Kevin R, Theilmann, Mark R, Spurka, Lindsay, Grauman, Peter V, Lai, Henry H, Jeon, Diana, Haliburton, Genevieve, Leggett, Matt, Chu, Clement S, Iori, Kevin, Maguire, Jared R, Ready, Kaylene, Evans, Eric A, Kang, Hyunseok P, Haque, Imran S

“…The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided…”
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Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification by Hogan, Gregory J, Vysotskaia, Valentina S, Beauchamp, Kyle A, Seisenberger, Stefanie, Grauman, Peter V, Haas, Kevin R, Hong, Sun Hae, Jeon, Diana, Kash, Shera, Lai, Henry H, Melroy, Laura M, Theilmann, Mark R, Chu, Clement S, Iori, Kevin, Maguire, Jared R, Evans, Eric A, Haque, Imran S, Mar-Heyming, Rebecca, Kang, Hyunseok P, Muzzey, Dale

“…By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an…”
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A BioBrick compatible strategy for genetic modification of plants by Boyle, Patrick M, Burrill, Devin R, Inniss, Mara C, Agapakis, Christina M, Deardon, Aaron, DeWerd, Jonathan G, Gedeon, Michael A, Quinn, Jacqueline Y, Paull, Morgan L, Raman, Anugraha M, Theilmann, Mark R, Wang, Lu, Winn, Julia C, Medvedik, Oliver, Schellenberg, Kurt, Haynes, Karmella A, Viel, Alain, Brenner, Tamara J, Church, George M, Shah, Jagesh V, Silver, Pamela A

“…Plant biotechnology can be leveraged to produce food, fuel, medicine, and materials. Standardized methods advocated by the synthetic biology community can…”
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Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening by Kaseniit, Kristjan Eerik, Theilmann, Mark R, Robertson, Alexander, Evans, Eric A, Haque, Imran S

“…Fragile X syndrome (FXS, OMIM #300624) is an X-linked condition caused by trinucleotide repeat expansions in the 5' UTR (untranslated region) of the fragile X…”
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