Institution · National Organization for Rare Disorders
Most cited papers from National Organization for Rare Disorders
What are the most cited papers from National Organization for Rare Disorders?
The most cited paper from National Organization for Rare Disorders is "Clinical research for rare disease: Opportunities, challenges, and solutions" (Robert C. Griggs, Mark L. Batshaw, Mary Dunkle et al., 2008), with 413 citations. Next come "From adaptive licensing to adaptive pathways: Delivering a flexible life‐span approach to bring new drugs to patients" (194) and "The National Organization for Rare Disorders (NORD)" (182).
Showing 50 of 73 papers. Every paper is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Clinical research for rare disease: Opportunities, challenges, and solutions Robert C. Griggs, Mark L. Batshaw, Mary Dunkle et al. · Molecular Genetics and Metabolism | 14 Nov 2008 | 413 |
| 2 | From adaptive licensing to adaptive pathways: Delivering a flexible life‐span approach to bring new drugs to patients H‐G Eichler et al. · Clinical Pharmacology & Therapeutics | 4 Feb 2015 | 194 |
| 3 | The National Organization for Rare Disorders (NORD) Stefanie Putkowski · NASN School Nurse | 30 Nov 2009 | 182 |
| 4 | Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges Takeya Adachi, Ayman W. El‐Hattab, Ritu Jain et al. · International Journal of Environmental Research and Public Health | 8 Mar 2023 | 172 |
| 5 | Establishing Patient Registries for Rare Diseases: Rationale and Challenges Vanessa M. Boulanger, Marissa Schlemmer, Suzanne Rossov et al. · Pharmaceutical Medicine | 25 Mar 2020 | 134 |
| 6 | The need for worldwide policy and action plans for rare diseases John Forman, Domenica Taruscio, Virginia A. Llera et al. · Acta Paediatrica | 20 Apr 2012 | 110 |
| 7 | Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction Priya Sunil Kishnani et al. · Molecular Genetics and Metabolism | 10 Nov 2015 | 86 |
| 8 | Advocacy Groups and Their Role in Rare Diseases Research Mary Dunkle, Wayne L. Pines, Peter L. Saltonstall · Advances in experimental medicine and biology | 2010 | 71 |
| 9 | Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II Leonardo Vedolin, Ida Vanessa Döederlein Schwartz, Márcia Komlós et al. · American Journal of Neuroradiology | Jun 2007 | 69 |
| 10 | Prevalence of lifetime self-injurious thoughts and behaviors in a global sample of 599 patients reporting prospectively confirmed diagnosis with premenstrual dysphoric disorder Tory Anne Eisenlohr-Moul, Madeline Divine, Katja Maria Schmalenberger et al. · BMC Psychiatry | 19 Mar 2022 | 56 |
| 11 | Quantum of Effectiveness Evidence in FDA’s Approval of Orphan Drugs Frank J. Sasinowski · Drug Information Journal | Mar 2012 | 54 |
| 12 | GENERATING HEALTH TECHNOLOGY ASSESSMENT EVIDENCE FOR RARE DISEASES Karen M. Facey, Alı́cia Granados, Gordon Henry Guyatt et al. · International Journal of Technology Assessment in Health Care | Oct 2014 | 44 |
| 13 | Quantum of Effectiveness Evidence in FDA’s Approval of Orphan Drugs: Update, July 2010 to June 2014 Frank J. Sasinowski, Erika B. Panico, James E. Valentine · Therapeutic Innovation & Regulatory Science | 29 Apr 2015 | 43 |
| 14 | Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes Margaret Rosenfeld, Josh Ostrenga, Elizabeth A. Cromwell et al. · Archives of Pediatrics and Adolescent Medicine | Aug 2022 | 42 |
| 15 | Plain-language medical vocabulary for precision diagnosis Nicole Vasilevsky et al. · Nature Genetics | Apr 2018 | 41 |
| 16 | The economic impact of ALS Lynn M. Klein, Dallas A. Forshew · Neurology | Oct 1996 | 37 |
| 17 | Clinical pharmacology as a cornerstone of orphan drug development Edward Dennis Bashaw, Shiew‐Mei Huang, Timothy R. Coté et al. · Nature Reviews Drug Discovery | 31 Oct 2011 | 27 |
| 18 | Mondo: integrating disease terminology across communities Nicole Vasilevsky et al. · Genetics | 6 Oct 2025 | 25 |
| 19 | Developing a Patient-Directed Policy Framework for Managing Orphan and Ultra-Orphan Drugs Throughout Their Lifecycle Devidas Menon, Tania Stafinski, Andrea L. Dunn et al. · Patient | 5 Jan 2015 | 25 |
| 20 | The Bespoke Gene Therapy Consortium: facilitating development of AAV gene therapies for rare diseases Philip John Brooks, Timothy M. Miller, Frédéric Revah et al. · Nature Reviews Drug Discovery | 6 Feb 2024 | 22 |
| 21 | A 30-year retrospective: National Organization for Rare Disorders, the Orphan Drug Act, and the role of rare disease patient advocacy groups Mary Dunkle · Orphan Drugs Research and Reviews | Feb 2014 | 22 |
| 22 | Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative Christoffer Nellåker et al. · Frontiers in Genetics | 29 Jul 2019 | 19 |
| 23 | The progress of, challenges faced by, and future of rare disease patient organizations in China Rufang Huang, Yunshu Wei, Jiahao Hu et al. · Intractable & Rare Diseases Research | 31 May 2019 | 18 |
| 24 | Rare Disease Policy in High-Income Countries: An Overview of Achievements, Challenges, and Solutions Arianna Gentilini, Emilie Neez, Durhane Wong‐Rieger · Value in Health | 27 Jan 2025 | 17 |
| 25 | The Care Continuum: An Evolving Model for Care and Research in Rare Diseases Erika Fullwood Augustine, Earl Ray Dorsey, Peter L. Saltonstall · PEDIATRICS | 17 Aug 2017 | 15 |
| 26 | Innovations in Therapy Development for Rare Diseases Through the Rare Disease Cures Accelerator-Data and Analytics Platform Jane Larkindale, Alexandre Betourne, Amanda Borens et al. · Therapeutic Innovation & Regulatory Science | 6 Jun 2022 | 12 |
| 27 | Adaptive Biomedical Innovation: Evolving Our Global System to Sustainably and Safely Bring New Medicines to Patients in Need Gigi Hirsch, Mark R. Trusheim, E Cobbs et al. · Clinical Pharmacology & Therapeutics | 14 Sep 2016 | 12 |
| 28 | Enhancing the value of clinical networks for rare diseases Matthew Bolz-Johnson, Louise Clément, William Allen Gahl et al. · Rare Disease and Orphan Drugs Journal | 2022 | 11 |
| 29 | Une intégration régionale stratégique : le cas nord-américain Christian Deblock, Dorval Brunelle · Études internationales | 1993 | 11 |
| 30 | Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry Kenneth I. Berger, Yin‐Hsiu Chien, Alberto L. Dubrovsky et al. · Journal of Neurology | 19 Jun 2024 | 10 |
| 31 | Impact of loss to follow-up on survival estimation for cystic fibrosis Joshua S. Ostrenga, Anne Whitney Brown, Jonathan Todd et al. · Annals of Epidemiology | 6 Aug 2023 | 10 |
| 32 | Clinical Trial Design for Alpha-1 Antitrypsin Deficiency: A Model for Rare Diseases Adam Wanner, Stephen C. Groft, J. Russell Teagarden et al. · Chronic Obstructive Pulmonary Diseases Journal of the COPD Foundation | 2014 | 10 |
| 33 | Access and availability of orphan drugs in the United States: advances or cruel hoaxes? J. Russell Teagarden, Thomas F. Unger, Gigi Hirsch · Expert Opinion on Orphan Drugs | 26 Sep 2014 | 10 |
| 34 | Well Connected: Pharmacy Education and the Humanities J. Russell Teagarden · Journal of Medical Humanities | 26 Aug 2013 | 10 |
| 35 | Polymorphic SINEC_Cf Retrotransposons in the Genome of the Dog ( Canis familiaris ) Sara E. Kalla, Hooman K. Moghadam, Max Tomlinson et al. · bioRxiv (Cold Spring Harbor Laboratory) | 28 Oct 2020 | 8 |
| 36 | What Rare Disease Patient Advocacy Groups Are Doing to Mitigate the Effects of Disparities Debbie Drell, Ashanthi De Silva, Cornelia Lee · Advances in Pulmonary Hypertension | Apr 2022 | 7 |
| 37 | Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data A. K. Sen et al. · Data | 8 Apr 2024 | 5 |
| 38 | State of the art of rare disease activities around the world: overview of the non-European landscape Durhane Wong‐Rieger · Orphanet Journal of Rare Diseases | Nov 2012 | 5 |
| 39 | Suicidality should be considered for inclusion in the diagnostic criteria for PMDD Jennifer L. Gordon, Sneha Chenji, Arianna Di Florio et al. · The Lancet Psychiatry | 20 Sep 2024 | 4 |
| 40 | Paradox of possibilities: the rare landscape in the Asia Pacific Region Ritu Jain, Chiuhui Mary Wang, Lisa Foster et al. · Rare Disease and Orphan Drugs Journal | 29 Feb 2024 | 4 |
| 41 | Cross-border rare disease advocacy: Preethi Krishnaraj interviews Harsha Rajasimha Preethi Krishnaraj, Harsha Karur Rajasimha · Disease Models & Mechanisms | 25 Jan 2024 | 4 |
| 42 | The Orphan Drug Act at 40: Legislative Triumph and the Challenges of Success Peter L. Saltonstall, H. Ross, PAUL T. KIM · Milbank Quarterly | 12 Dec 2023 | 4 |
| 43 | Building cross-border collaborations to increase diversity and accelerate rare disease drug development – meeting report from the inaugural IndoUSrare Annual Conference 2021 Harvinder Kour Khera, Nisha Venugopal, Ramya T. Karur et al. · Therapeutic Advances in Rare Disease | 2022 | 4 |
| 44 | Multi-Method Patient-Engagement Approach: A Case Example from a PCORI-Funded Training Project Elisabeth M. Oehrlein, Tammy R. Love, Chinenye Anyanwu et al. · Patient | 2 Nov 2018 | 4 |
| 45 | Orphan Drugs: The Current Situation in the United States, Europe, and Asia Abbey S. Meyers · Drug Information Journal | 1997 | 4 |
| 46 | Regulation of Human Gene Therapy Gary A. Chase, Patricia A. DeLeon, Krishna R. Dronamraju et al. · Science | 7 Jul 1995 | 4 |
| 47 | Treatment of small as well as large declines in lung function enhances recovery to baseline in people with CF Michael S. Schechter, Joshua S. Ostrenga, Elizabeth A. Cromwell et al. · Pediatric Pulmonology | 12 Jul 2024 | 3 |
| 48 | P531: Developing the patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing value of genetic testing from patients’ perspectives in multiple clinical contexts Elise Poole et al. · Genetics in Medicine Open | 2024 | 2 |
| 49 | Managing Heterogeneity in Prescription Drug Coverage Policies J. Russell Teagarden · Journal of Managed Care Pharmacy | Jun 2014 | 2 |
| 50 | Working collaboratively and internationally to improve the lives of people affected by rare disease Maria Mavris, Mary Dunkle · Expert Opinion on Orphan Drugs | Nov 2014 | 2 |
Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.