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Sharon Terry
Sharon Terry
Genetic Alliance
Verified email at geneticalliance.org
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Cited by
Cited by
Year
The international HapMap project
RA Gibbs, JW Belmont, P Hardenbol, TD Willis, FL Yu, HM Yang, ...
Nature Publishing Group, 2003
61882003
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
8542008
Mutations in ABCC6 cause pseudoxanthoma elasticum
AAB Bergen, AS Plomp, EJ Schuurman, S Terry, M Breuning, ...
Nature genetics 25 (2), 228-231, 2000
6822000
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
6102000
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
5182019
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
5042012
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
4882015
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
3382001
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
3172012
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
2162007
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
2112007
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
2102009
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
2052001
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
2032007
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, 2018
1962018
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
1902017
The CTSA program at NIH: Opportunities for advancing clinical and translational research
CT Liverman, AM Schultz, SF Terry, AI Leshner
National Academies Press, 2013
1652013
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
1312013
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
1102012
Novel clinico‐molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
OM Vanakker, BP Leroy, P Coucke, LG Bercovitch, J Uitto, D Viljoen, ...
Human mutation 29 (1), 205-205, 2008
1052008
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