檢索結果 - Facio, Flavia M.

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research 由 Facio, Flavia M, Sapp, Julie C, Linn, Amy, Biesecker, Leslie G

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Motivators for participation in a whole-genome sequencing study: implications for translational genomics research 由 Facio, Flavia M, Brooks, Stephanie, Loewenstein, Johanna, Green, Susannah, Biesecker, Leslie G, Biesecker, Barbara B

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Validation of My Family Health Portrait for Six Common Heritable Conditions 由 Facio, Flavia M., Feero, W. Gregory, Linn, Amy, Oden, Neal, Manickam, Kandamurugu, Biesecker, Leslie G.

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Genomic Inheritances: Disclosing Individual Research Results From Whole-Exome Sequencing to Deceased Participants’ Relatives 由 Chan, Ben, Facio, Flavia M., Eidem, Haley, Hull, Sara Chandros, Biesecker, Leslie G., Berkman, Benjamin E.

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Research participants' attitudes towards the confidentiality of genomic sequence information 由 Jamal, Leila, Sapp, Julie C, Lewis, Katie, Yanes, Tatiane, Facio, Flavia M, Biesecker, Leslie G, Biesecker, Barbara B

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Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study 由 Facio, Flavia M, Eidem, Haley, Fisher, Tyler, Brooks, Stephanie, Linn, Amy, Kaphingst, Kimberly A, Biesecker, Leslie G, Biesecker, Barbara B

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A systematic literature review of disclosure practices and reported outcomes for medically-actionable genomic secondary findings 由 Sapp, Julie C., Facio, Flavia M., Cooper, Diane, Lewis, Katie L., Modlin, Emily, van der Wees, Philip, Biesecker, Leslie G.

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Effects of informed consent for individual genome sequencing on relevant knowledge 由 Kaphingst, Kimberly A., Facio, Flavia M., Cheng, Meng-Ru, Brooks, Stephanie, Eidem, Haley, Linn, Amy, Biesecker, Barbara B., Biesecker, Leslie G.

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Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes 由 Johnston, Jennifer J., Rubinstein, Wendy S., Facio, Flavia M., Ng, David, Singh, Larry N., Teer, Jamie K., Mullikin, James C., Biesecker, Leslie G.

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Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the U.S. Surgeon General’s My Family Health Portrait 由 Feero, W. Gregory, Facio, Flavia M., Glogowski, Emily A., Hampel, Heather L., Stopfer, Jill E., Eidem, Haley, Pizzino, Amy M., Barton, David K., Biesecker, Leslie G.

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FOS Expression in Blood as a LDL-Independent Marker of Statin Treatment 由 Kang, Ju-Gyeong, Sung, Ho Joong, Jawed, Sarah I., Brenneman, Cynthia L., Rao, Yesoda N., Sher, Salman, Facio, Flavia M., Biesecker, Leslie G., Quyyumi, Arshed A., Sachdev, Vandana, Hwang, Paul M.

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DIFFERENTIATING MOEBIUS SYNDROME AND OTHER CONGENITAL FACIAL WEAKNESS DISORDERS WITH ELECTRODIAGNOSTIC STUDIES 由 LEHKY, TANYA, JOSEPH, REVERSA, TORO, CAMILO, WU, TIANXIA, VAN RYZIN, CAROL, GROPMAN, ANDREA, FACIO, FLAVIA M., WEBB, BRYN D., JABS, ETHYLIN WANG, BARRY, BRENDA S., ENGLE, ELIZABETH C., COLLINS, FRANCIS S., MANOLI, IRINI

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The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine 由 Biesecker, Leslie G., Mullikin, James C., Facio, Flavia M., Turner, Clesson, Cherukuri, Praveen F., Blakesley, Robert W., Bouffard, Gerard G., Chines, Peter S., Cruz, Pedro, Hansen, Nancy F., Teer, Jamie K., Maskeri, Baishali, Young, Alice C., Manolio, Teri A., Wilson, Alexander F., Finkel, Toren, Hwang, Paul, Arai, Andrew, Remaley, Alan T., Sachdev, Vandana, Shamburek, Robert, Cannon, Richard O., Green, Eric D.

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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy 由 Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.

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