Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Johnston, Jennifer J., Rubinstein, Wendy S., Facio, Flavia M., Ng, David, Singh, Larry N., Teer, Jamie K., Mullikin, James C., Biesecker, Leslie G.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
Get full text
Journal Article
Motivators for participation in a whole-genome sequencing study: implications for translational genomics research
FACIO, Flavia M, BROOKS, Stephanie, LOEWENSTEIN, Johanna, GREEN, Susannah, BIESECKER, Leslie G, BIESECKER, Barbara B
Published in European journal of human genetics : EJHG (01.12.2011)
Published in European journal of human genetics : EJHG (01.12.2011)
Get full text
Journal Article
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine
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
Published in Genome Research (01.09.2009)
Published in Genome Research (01.09.2009)
Get full text
Journal Article
Applications of artificial intelligence in clinical laboratory genomics
Aradhya, Swaroop, Facio, Flavia M, Metz, Hillery, Manders, Toby, Colavin, Alexandre, Kobayashi, Yuya, Nykamp, Keith, Johnson, Britt, Nussbaum, Robert L
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2023)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2023)
Get full text
Journal Article
Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research
Facio, Flavia M, Sapp, Julie C, Linn, Amy, Biesecker, Leslie G
Published in BMC medical genomics (10.10.2012)
Published in BMC medical genomics (10.10.2012)
Get full text
Journal Article
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study
Facio, Flavia M, Eidem, Haley, Fisher, Tyler, Brooks, Stephanie, Linn, Amy, Kaphingst, Kimberly A, Biesecker, Leslie G, Biesecker, Barbara B
Published in European journal of human genetics : EJHG (01.03.2013)
Published in European journal of human genetics : EJHG (01.03.2013)
Get full text
Journal Article
A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings
Sapp, Julie C, Facio, Flavia M, Cooper, Diane, Lewis, Katie L, Modlin, Emily, van der Wees, Philip, Biesecker, Leslie G
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
Get full text
Journal Article
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Tenney, Alan P, Di Gioia, Silvio Alessandro, Webb, Bryn D, Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J, Barry, Brenda J, Ray, Tammy, Kosicki, Michael, Robson, Caroline D, Zhang, Zhongyang, Collins, Thomas E, Gelber, Alon, Pratt, Brandon M, Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E, Van Ryzin, Carol, Lehky, Tanya J, Zalewski, Christopher, King, Kelly A, Brewer, Carmen C, Thurm, Audrey, Snow, Joseph, Facio, Flavia M, Narisu, Narisu, Bonnycastle, Lori L, Swift, Amy, Chines, Peter S, Bell, Jessica L, Mohan, Suresh, Whitman, Mary C, Staffieri, Sandra E, Elder, James E, Demer, Joseph L, Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A, Brady, Angela F, Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W, Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H, Parker, Stephen C J, Hadlock, Tessa A, Vissers, Lisenka E L M, van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S, Pennacchio, Len A, Manoli, Irini, Engle, Elizabeth C
Published in Nature genetics (01.07.2023)
Published in Nature genetics (01.07.2023)
Get full text
Journal Article
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies
Lehky, Tanya, Joseph, Reversa, Toro, Camilo, Wu, Tianxia, Van Ryzin, Carol, Gropman, Andrea, Facio, Flavia M., Webb, Bryn D., Jabs, Ethylin W., Barry, Brenda S., Engle, Elizabeth C., Collins, Francis S., Manoli, Irini
Published in Muscle & nerve (01.04.2021)
Published in Muscle & nerve (01.04.2021)
Get full text
Journal Article
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing
Chen, Elaine, Facio, Flavia M., Aradhya, Kerry W., Rojahn, Susan, Hatchell, Kathryn E., Aguilar, Sienna, Ouyang, Karen, Saitta, Sulagna, Hanson-Kwan, Andrea K., Capurro, Nicole Nakousi, Takamine, Eriko, Jamuar, Saumya Shekhar, McKnight, Dianalee, Johnson, Britt, Aradhya, Swaroop
Published in JAMA network open (25.10.2023)
Published in JAMA network open (25.10.2023)
Get full text
Journal Article
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
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.
Published in Human genetics (01.12.2021)
Published in Human genetics (01.12.2021)
Get full text
Journal Article
A Genetic Counselor’s Guide to Using Next-Generation Sequencing in Clinical Practice
Facio, Flavia M., Lee, Kristy, O’Daniel, Julianne M.
Published in Journal of genetic counseling (01.08.2014)
Published in Journal of genetic counseling (01.08.2014)
Get full text
Journal Article
Genomic Inheritances: Disclosing Individual Research Results From Whole-Exome Sequencing to Deceased Participants' Relatives
Chan, Ben, Facio, Flavia M., Eidem, Haley, Hull, Sara Chandros, Biesecker, Leslie G., Berkman, Benjamin E.
Published in American journal of bioethics (01.10.2012)
Published in American journal of bioethics (01.10.2012)
Get full text
Journal Article
Validation of My Family Health Portrait for six common heritable conditions
Facio, Flavia M., Feero, W. Gregory, Linn, Amy, Oden, Neal, Manickam, Kandamurugu, Biesecker, Leslie G.
Published in Genetics in medicine (01.06.2010)
Published in Genetics in medicine (01.06.2010)
Get full text
Journal Article
Using the diffusion of innovations model to guide participant engagement in the genomics era
Lewis, Katie L., Facio, Flavia M., Berrios, Courtney D.
Published in Journal of genetic counseling (01.04.2019)
Published in Journal of genetic counseling (01.04.2019)
Get full text
Journal Article
Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait
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
Published in Genetics in medicine (01.09.2015)
Published in Genetics in medicine (01.09.2015)
Get full text
Journal Article
FOS expression in blood as a LDL-independent marker of statin treatment
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
Published in Atherosclerosis (01.10.2010)
Published in Atherosclerosis (01.10.2010)
Get full text
Journal Article
PO-01-182 TRACKING UNCERTAINTY IN GERMLINE GENETIC TESTING FOR ARRHYTHMIAS: SOURCES, ATTRIBUTES, AND RESOLUTION OF VARIANTS OF UNCERTAIN SIGNIFICANCE IN OVER 9,000 INDIVIDUALS
Ting, Yi-Lee, Chen, Elaine, Facio, Flavia M., Hatchell, Kathryn E., Aguilar, Sienna, Ouyang, Karen, Aradhya, Swaroop, Johnson, Britt
Published in Heart rhythm (01.05.2024)
Published in Heart rhythm (01.05.2024)
Get full text
Journal Article
Cover Image, Volume 193, Number 3, September 2023
Aradhya, Swaroop, Facio, Flavia M., Metz, Hillery, Manders, Toby, Colavin, Alexandre, Kobayashi, Yuya, Nykamp, Keith, Johnson, Britt, Nussbaum, Robert L.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2023)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2023)
Get full text
Journal Article