Search Results - "Ekstein, Tali"

A Pilot Study to Evaluate the Influence of a Clinician Outreach Effort for VUS Resolution in Limb-Girdle Muscular Dystrophy (P10-4.011) by Bardakjian, Tanya, Morales, Ana, Garcia, John, Ekstein, Tali, Schlechter, Catie, Patanapirom, Jasmine, O'Rourke, Erin

“…Abstract only…”
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Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels by Chang, Emmeline Y., Solomon, Ilana, Culver, Julie O., Gorman, Nicholas, Comeaux, Jacob G., Lerman, Caryn, Quinn, Emily A., Ekstein, Tali

“…Research suggests variants of uncertain significance (VUSs) present a variety of challenges for genetic counselors (GCs), nongenetics clinicians, and patients…”
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Unexpected germline mutations in a pan-cancer analysis including sarcoma, renal, and other cancers by Yang, Shan, Michalski, Scott T., Holle, Jennifer, Ekstein, Tali, O'Leary, Erin, Pardo, Carolina, Heidari, Nastaran, Anderson, Michael, Ouyang, Karen, Nussbaum, Robert L., Lincoln, Stephen E, Esplin, Edward D.

“…Abstract only 1584 Background: Multi-gene testing for cancer predisposition is increasingly utilized in clinical care. Although the diagnostic yield and…”
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Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review by Tan, Christopher A., Rabideau, Marina, Blevins, Amy, Westbrook, Marjorie Jody, Ekstein, Tali, Nykamp, Keith, Deucher, Anne, Harper, Amy, Demmer, Laurie

“…Pathogenic variants in the mitofusin 2 gene (MFN2) are the most common cause of autosomal dominant Charcot‐Marie‐Tooth (CMT2) disease, which is typically…”
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Abstract P4-12-09: Low-level constitutional mosaicism of a de novo BRCA1 gene mutation by Friedman, Eitan, Efrat, Noa, Soussan-Gutman, Lior, Dvir, Addie, Kaplan, Yulia, Ekstein, Tali, Nykamp, Keith, Powers, Martin, Rabideau, Marina, Topper, Scott

“…Abstract Background: Germline mutations in the BRCA1 and BRCA2 genes detected in some high-risk breast/ovarian families are used to estimate cancer risk, plan…”
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Correction: Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria by Nykamp, Keith, Anderson, Michael, Powers, Martin, Garcia, John, Herrera, Blanca, Ho, Yuan-Yuan, Kobayashi, Yuya, Patil, Nila, Thusberg, Janita, Westbrook, Marjorie, Topper, Scott

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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