Search Results - "Krempely, Kate"

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care by Tandy-Connor, Stephany, Guiltinan, Jenna, Krempely, Kate, LaDuca, Holly, Reineke, Patrick, Gutierrez, Stephanie, Gray, Phillip, Tippin Davis, Brigette

“…There is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of…”
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A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay by Krempely, Kate, Karam, Rachid

“…Most truncating ( ) pathogenic alterations confer an elevated lifetime risk of diffuse gastric cancer (DGC) and lobular breast cancer (LBC). However,…”
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants by Lee, Kristy, Krempely, Kate, Roberts, Maegan E., Anderson, Michael J., Carneiro, Fatima, Chao, Elizabeth, Dixon, Katherine, Figueiredo, Joana, Ghosh, Rajarshi, Huntsman, David, Kaurah, Pardeep, Kesserwan, Chimene, Landrith, Tyler, Li, Shuwei, Mensenkamp, Arjen R., Oliveira, Carla, Pardo, Carolina, Pesaran, Tina, Richardson, Matthew, Slavin, Thomas P., Spurdle, Amanda B., Trapp, Mackenzie, Witkowski, Leora, Yi, Charles S., Zhang, Liying, Plon, Sharon E., Schrader, Kasmintan A., Karam, Rachid

“…The variant curation guidelines published in 2015 by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology…”
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eP382: Providing more answers for patients with supplemental RNA analysis by Nykamp, Keith, Kamps-Hughes, Nick, Vincent, John, Albritton, Sarah, Fresard, Laure, Carlton, Victoria, Kang, Hio Chung, Krempely, Kate, Pardo, Carolina

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TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family by Streff, Haley, Posey, Jennifer E., Mauer, Caitlin B., Krempely, Kate, Potocki, Lorraine, Northrup, Hope

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14. Providing more answers for patients with supplemental RNA analysis by Fresard, Laure, Nykamp, Keith, Kamp-Hughes, Nick, Vincent, John, Albritton, Sarah, Carlton, Victoria, Kang, Hio Chung, Krempely, Kate, Pardo, Carolina

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Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical by Tandy-Connor, Stephany, Krempely, Kate, Pesaran, Tina, LaDuca, Holly, Guiltinan, Jenna, Davis, Brigette Tippin

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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer by Karam, Rachid, Conner, Blair, LaDuca, Holly, McGoldrick, Kelly, Krempely, Kate, Richardson, Marcy E., Zimmermann, Heather, Gutierrez, Stephanie, Reineke, Patrick, Hoang, Lily, Allen, Kyle, Yussuf, Amal, Farber-Katz, Suzette, Rana, Huma Q., Culver, Samantha, Lee, John, Nashed, Sarah, Toppmeyer, Deborah, Collins, Debra, Haynes, Ginger, Pesaran, Tina, Dolinsky, Jill S., Tippin Davis, Brigette, Elliott, Aaron, Chao, Elizabeth

“…Importance Performing DNA genetic testing (DGT) for hereditary cancer genes is now a well-accepted clinical practice; however, the interpretation of DNA…”
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Integrating Genetic Counselors into the Healthcare System: A Discourse on the Barriers Preventing Professional Recognition by Krempely, Kate

“…This paper examines the current state of billing and reimbursement for genetic counselors and delineates the barriers preventing their integration into the…”
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TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation Family by Streff, Haley, Posey, Jennifer E, Mauer, Caitlin B, Krempely, Kate, Potocki, Lorraine, Northrup, Hope

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