| Risk-Reducing Salpingo-oophorectomy in Women with a BRCA1 or BRCA2 Mutation ND Kauff, JM Satagopan, ME Robson, L Scheuer, M Hensley, CA Hudis, ... New England Journal of Medicine 346 (21), 1609-1615, 2002 | 1699 | 2002 |
| A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome MJ Lindhurst, JC Sapp, JK Teer, JJ Johnston, EM Finn, K Peters, J Turner, ... New England Journal of Medicine 365 (7), 611-619, 2011 | 1011 | 2011 |
| MRI of occult breast carcinoma in a high-risk population EA Morris, L Liberman, DJ Ballon, M Robson, AF Abramson, A Heerdt, ... American Journal of Roentgenology 181 (3), 619-626, 2003 | 440 | 2003 |
| Disclosing individual genetic results to research participants V Ravitsky, BS Wilfond The American Journal of Bioethics 6 (6), 8-17, 2006 | 338 | 2006 |
| The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine LG Biesecker, JC Mullikin, FM Facio, C Turner, PF Cherukuri, ... Genome research 19 (9), 1665-1674, 2009 | 304 | 2009 |
| Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors PL Devers, A Cronister, KE Ormond, F Facio, CK Brasington, P Flodman Journal of genetic counseling 22 (3), 291-295, 2013 | 258 | 2013 |
| Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes JJ Johnston, WS Rubinstein, FM Facio, D Ng, LN Singh, JK Teer, ... The American Journal of Human Genetics 91 (1), 97-108, 2012 | 222 | 2012 |
| Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study FM Facio, H Eidem, T Fisher, S Brooks, A Linn, KA Kaphingst, ... European Journal of Human Genetics 21 (3), 261-265, 2013 | 186 | 2013 |
| Motivators for participation in a whole-genome sequencing study: implications for translational genomics research FM Facio, S Brooks, J Loewenstein, S Green, LG Biesecker, BB Biesecker European Journal of Human Genetics 19 (12), 1213-1217, 2011 | 146 | 2011 |
| Effects of informed consent for individual genome sequencing on relevant knowledge KA Kaphingst, FM Facio, MR Cheng, S Brooks, H Eidem, A Linn, ... Clinical genetics 82 (5), 408-415, 2012 | 121 | 2012 |
| Validation of My Family Health Portrait for six common heritable conditions FM Facio, WG Feero, A Linn, N Oden, K Manickam, LG Biesecker Genetics in Medicine 12 (6), 370-375, 2010 | 91 | 2010 |
| Rates and classification of variants of uncertain significance in hereditary disease genetic testing E Chen, FM Facio, KW Aradhya, S Rojahn, KE Hatchell, S Aguilar, ... JAMA network open 6 (10), e2339571-e2339571, 2023 | 79 | 2023 |
| Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants’ relatives B Chan, FM Facio, H Eidem, SC Hull, LG Biesecker, BE Berkman The American Journal of Bioethics 12 (10), 1-8, 2012 | 75 | 2012 |
| Research participants’ attitudes towards the confidentiality of genomic sequence information L Jamal, JC Sapp, K Lewis, T Yanes, FM Facio, LG Biesecker, ... European Journal of Human Genetics 22 (8), 964-968, 2014 | 72 | 2014 |
| Preferences for results delivery from exome sequencing/genome sequencing MF Wright, KL Lewis, TC Fisher, GW Hooker, TE Emanuel, LG Biesecker, ... Genetics in Medicine 16 (6), 442-447, 2014 | 66 | 2014 |
| Participant use and communication of findings from exome sequencing: a mixed-methods study KL Lewis, GW Hooker, PD Connors, TC Hyams, MF Wright, S Caldwell, ... Genetics in Medicine 18 (6), 577-583, 2016 | 60 | 2016 |
| The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li–Fraumeni-like kindreds R Siddiqui, K Onel, F Facio, K Nafa, LR Diaz, N Kauff, H Huang, ... Familial Cancer 4, 177-181, 2005 | 50 | 2005 |
| A genetic counselor’s guide to using next-generation sequencing in clinical practice FM Facio, K Lee, JM O’Daniel Journal of genetic counseling 23, 455-462, 2014 | 42 | 2014 |
| Applications of artificial intelligence in clinical laboratory genomics S Aradhya, FM Facio, H Metz, T Manders, A Colavin, Y Kobayashi, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2023 | 31 | 2023 |
| Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes JJ Johnston, RL Walker, S Davis, F Facio, JT Turner, DP Bick, DL Daentl, ... Journal of medical genetics 44 (1), e59-e59, 2007 | 29 | 2007 |
