Skip to Main Content

Author Details

Stephen C Groft
National Center for Advancing Translational Sciences, National Institutes of Health
1981
46
20
PMIDPaper TitleJournal TitlePublished Year
36935719Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.Front Public Health2023
37161573Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.Orphanet J Rare Dis2023
34256816Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group.Orphanet J Rare Dis2021
34105798Progress, challenges and global approaches to rare diseases.Acta Paediatr2021
33426479The case for open science: rare diseases.JAMIA Open2020
31873296A call for global action for rare diseases in Africa.Nat Genet2020
31836861Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.Nat Rev Drug Discov2020
31913355Publisher Correction: Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.Nat Rev Drug Discov2020
31401141How to Advance Research, Education, and Training in the Study of Rare Diseases.Gastroenterology2019
29214563Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data.Adv Exp Med Biol2017
28475856International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Am J Hum Genet2017
28468665Initiating an undiagnosed diseases program in the Western Australian public health system.Orphanet J Rare Dis2017
29214596Preparing for the Future of Rare Diseases.Adv Exp Med Biol2017
29214582A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC).Adv Exp Med Biol2017
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
29214564Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.Adv Exp Med Biol2017
27194034The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network.Orphanet J Rare Dis2016
26596705Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.Mol Genet Metab2015
28848840Clinical Trial Design for Alpha-1 Antitrypsin Deficiency: A Model for Rare Diseases.Chronic Obstr Pulm Dis2015
24667081Phenylketonuria Scientific Review Conference: state of the science and future research needs.Mol Genet Metab2014
25029976The Rare Diseases Clinical Research Network's organization and approach to observational research and health outcomes research.J Gen Intern Med2014
24794360Research into rare diseases of childhood.JAMA2014
24911489Expanding rare disease drug trials based on shared molecular etiology.Nat Biotechnol2014
24580809A past with uncertainty, a future with hope--rare disease day 2014 from a USA perspective.Orphanet J Rare Dis2014
23806236Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.Mol Genet Metab2013
24503586New and evolving rare diseases research programs at the National Institutes of Health.Public Health Genomics2013
23880676Rare diseases research: expanding collaborative translational research opportunities.Chest2013
22036667Informed consent and patient registry for the rare disease community: Editorial.Contemp Clin Trials2012
22519914The need for worldwide policy and action plans for rare diseases.Acta Paediatr2012
22226117Clinical trials In BMT: ensuring that rare diseases and rarer therapies are well done.Biol Blood Marrow Transplant2012
22036955Informed consent process for patient participation in rare disease registries linked to biorepositories.Contemp Clin Trials2012
20674966The case for a global rare-diseases registry.Lancet2011
21176882Research challenges in central nervous system manifestations of inborn errors of metabolism.Mol Genet Metab2011
20603228Driving interest in consolidating resources for the creation of a global rare disease patient registry.Contemp Clin Trials2010
20824436Rare diseases - avoiding misperceptions and establishing realities: the need for reliable epidemiological data.Adv Exp Med Biol2010
20609392Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).Contemp Clin Trials2010
19406507Expert consensus guidelines for stocking of antidotes in hospitals that provide emergency care.Ann Emerg Med2009
18555918Empowerment of patients: lessons from the rare diseases community.Lancet2008
17998470Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function.Circulation2007
17142557Impact of pediatric critical illness and injury on families: a systematic literature review.Pediatrics2006
16374356Fostering research partnerships: a perspective from The Office of Rare Diseases (ORD).Retina2005
2321528Rare diseases: identifying needs. Report of the National Commission on Orphan Diseases.Am Pharm1990
4050674The Orphan Drug Act: how well is it working?Am Pharm1985
10271306Orphan drug development in the United States.CPJ1985
7105993Patient package inserts: a research perspective.Drug Ther1982
10251273The history of patient package inserts in the United States.Can Pharm J1981
  • 1 - 46 of 46

Recommended Authors

Career Start Year 2017
Number of shared co-authors 0
Institute of Genetic Medicine, Newcastle University International Centre for Life
Career Start Year 2016
Number of shared co-authors 19
The Abigail Wexner Research Institute, Nationwide Children's Hospital
Career Start Year 2015
Number of shared co-authors 1
University of Southampton
Career Start Year 2014
Number of shared co-authors 7
The University of Chicago
Career Start Year 2012
Number of shared co-authors 1
Johns Hopkins University School of Medicine
Career Start Year 2010
Number of shared co-authors 2
Hospital for Sick Children, Canada University of Toronto
Career Start Year 2008
Number of shared co-authors 3
Harvard Medical School.
Career Start Year 2008
Number of shared co-authors 34
Columbia University Irving Medical Center
Career Start Year 2008
Number of shared co-authors 5
Rady Children's Institute for Genomic Medicine
Career Start Year 2007
Number of shared co-authors 7
Duke University
Career Start Year 2006
Number of shared co-authors 3
Vanderbilt University School of Medicine
Career Start Year 2005
Number of shared co-authors 1
University of Toronto.
Career Start Year 2003
Number of shared co-authors 2
Boston Children's Hospital
Career Start Year 2002
Number of shared co-authors 1
University of Cape Town
Career Start Year 2002
Number of shared co-authors 3
12328Vanderbilt University Medical Center
Career Start Year 2001
Number of shared co-authors 1
Yale School of Medicine
Career Start Year 1999
Number of shared co-authors 6
Wyss Institute for Biologically Inspired Engineering, Harvard University
Career Start Year 1999
Number of shared co-authors 4
university of massachusetts amherst Chan Medical School
Career Start Year 1998
Number of shared co-authors 3
Center for Human Genetics and Genomics, NYU Grossman School of Medicine
Career Start Year 1997
Number of shared co-authors 1
Congenica Ltd
Career Start Year 1995
Number of shared co-authors 19
Stanford University
Career Start Year 1994
Number of shared co-authors 4
University of North Carolina
Career Start Year 1989
Number of shared co-authors 5
Duke University.
Career Start Year 1989
Number of shared co-authors 2
University of Washington Medical Center
Career Start Year 1985
Number of shared co-authors 26
Harvard Medical School
Career Start Year 1985
Number of shared co-authors 30
Harvard Medical School
Career Start Year 1983
Number of shared co-authors 11
National Institutes of Health
Career Start Year 1981
Number of shared co-authors 6
Arizona State University.
Career Start Year 1978
Number of shared co-authors 19

Collaborators

National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 11
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 8
National Institutes of Health (NIH)
Co-authored papers 7
King Edward Memorial Hospital
Co-authored papers 7
Health Informatics Institute, University of South Florida
Co-authored papers 6
St. George's University Medical School
Co-authored papers 5
Institute of Rare Diseases Research, Instituto de Salud Carlos III
Co-authored papers 5
Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII)
Co-authored papers 4
Wilhelm Foundation
Co-authored papers 4
Center for Medical Genetics, Keio University School of Medicine
Co-authored papers 4
Novartis Gene Therapies
Co-authored papers 3
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
National Center for Advancing Translational Sciences, National Institutes of Health
Co-authored papers 3
King Edward Memorial Hospital
Co-authored papers 3
McGill University. Montreal
Co-authored papers 3
Co-authored papers 3
King Edward Memorial Hospital
Co-authored papers 3
Children's Hospital of Eastern Ontario
Co-authored papers 3
King Edward Memorial Hospital for Women
Co-authored papers 3
King Edward Memorial Hospital for Women Perth
Co-authored papers 2
INSERM
Co-authored papers 2
Co-authored papers 2
Applied Clinical Research Center, Children's Hospital of Philadelphia
Co-authored papers 2
Australia UNSW RNA Institute
Co-authored papers 2
University of Western Australia
Co-authored papers 2
Institut National de la Sante et de la Recherche Medicale
Co-authored papers 2
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 2
King Edward Memorial Hospital
Co-authored papers 2
Big Data Institute, University of Oxford
Co-authored papers 2
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 2