| The international HapMap project RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu, HM Yang, ... Nature Publishing Group, 2003 | 6330 | 2003 |
| Managing incidental findings in human subjects research: analysis and recommendations SM Wolf, FP Lawrenz, CA Nelson, JP Kahn, MK Cho, EW Clayton, ... Journal of Law, Medicine & Ethics 36 (2), 219-248, 2008 | 874 | 2008 |
| Mutations in ABCC6 cause pseudoxanthoma elasticum AAB Bergen, AS Plomp, EJ Schuurman, S Terry, M Breuning, ... Nature genetics 25 (2), 228-231, 2000 | 716 | 2000 |
| Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum O Le Saux, Z Urban, C Tschuch, K Csiszar, B Bacchelli, D Quaglino, ... Nature genetics 25 (2), 223-227, 2000 | 640 | 2000 |
| Adopt a moratorium on heritable genome editing ES Lander, F Baylis, F Zhang, E Charpentier, P Berg, C Bourgain, ... Nature 567 (7747), 165-168, 2019 | 571 | 2019 |
| The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015 | 525 | 2015 |
| Managing incidental findings and research results in genomic research involving biobanks and archived data sets SM Wolf, BN Crock, B Van Ness, F Lawrenz, JP Kahn, LM Beskow, ... Genetics in Medicine 14 (4), 361-384, 2012 | 515 | 2012 |
| Informed consent for population-based research involving genetics LM Beskow, W Burke, JF Merz, PA Barr, S Terry, VB Penchaszadeh, ... Jama 286 (18), 2315-2321, 2001 | 333 | 2001 |
| From patients to partners: participant-centric initiatives in biomedical research J Kaye, L Curren, N Anderson, K Edwards, SM Fullerton, N Kanellopoulou, ... Nature Reviews Genetics 13 (5), 371-376, 2012 | 331 | 2012 |
| The CTSA program at NIH: Opportunities for advancing clinical and translational research CT Liverman, AM Schultz, SF Terry, AI Leshner National Academies Press, 2013 | 265* | 2013 |
| Future of rare diseases research 2017–2027: an IRDiRC perspective CP Austin, CM Cutillo, LPL Lau, AH Jonker, A Rath, D Julkowska, ... Clinical and translational science 11 (1), 21, 2017 | 246 | 2017 |
| Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum EG Pfendner, OM Vanakker, SF Terry, S Vourthis, PE McAndrew, ... Journal of medical genetics 44 (10), 621-628, 2007 | 229 | 2007 |
| Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity OM Vanakker, L Martin, D Gheduzzi, BP Leroy, BL Loeys, VI Guerci, ... Journal of Investigative Dermatology 127 (3), 581-587, 2007 | 224 | 2007 |
| Review of 11 national policies for rare diseases in the context of key patient needs S Dharssi, D Wong-Rieger, M Harold, S Terry Orphanet journal of rare diseases 12, 1-13, 2017 | 219 | 2017 |
| The scientific foundation for personal genomics: recommendations from a National Institutes of Health–Centers for Disease Control and Prevention multidisciplinary workshop MJ Khoury, CM McBride, SD Schully, J Ioannidis, WG Feero, ... Genetics in Medicine 11 (8), 559-567, 2009 | 217 | 2009 |
| A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum O Le Saux, K Beck, C Sachsinger, C Silvestri, C Treiber, HHH Göring, ... The American Journal of Human Genetics 69 (4), 749-764, 2001 | 214 | 2001 |
| Advocacy groups as research organizations: the PXE International example SF Terry, PF Terry, KA Rauen, J Uitto, LG Bercovitch Nature Reviews Genetics 8 (2), 157-164, 2007 | 206 | 2007 |
| Point-counterpoint. Ethics and genomic incidental findings. AL McGuire, S Joffe, BA Koenig, BB Biesecker, LB McCullough, ... Science (New York, NY) 340 (6136), 1047-1048, 2013 | 131 | 2013 |
| CDC Grand Rounds: Newborn screening and improved outcomes. RR Howell, S Terry, VF Tait, R Olney, CF Hinton, S Grosse, J Eichwald, ... MMWR: Morbidity & Mortality Weekly Report 61 (21), 2012 | 125 | 2012 |
| The impact of false-positive newborn screening results on families: a qualitative study JL Schmidt, K Castellanos-Brown, S Childress, N Bonhomme, JS Oktay, ... Genetics in Medicine 14 (1), 76-80, 2012 | 120 | 2012 |
Jouni UittoThomas Jefferson UniversityEmail được xác minh tại jefferson.edu