Publications by authors named "Stephen C Groft"

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Progress, challenges and global approaches to rare diseases.
Stephen C Groft, Manuel Posada, Domenica Taruscio

Acta Paediatr· October 2021

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The case for open science: rare diseases.
Yaffa R Rubinstein, Peter N Robinson, William A Gahl, Paul Avillach, Gareth Baynam, Stephen C Groft

JAMIA Open· October 2020

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Publisher Correction: Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.
Erik Tambuyzer, Benjamin Vandendriessche, Christopher P Austin, Philip J Brooks, Kristina Larsson, Stephen C Groft

Nat Rev Drug Discov· April 2020

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Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.
Erik Tambuyzer, Benjamin Vandendriessche, Christopher P Austin, Philip J Brooks, Kristina Larsson, Stephen C Groft

Nat Rev Drug Discov· February 2020

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How to Advance Research, Education, and Training in the Study of Rare Diseases.
Stephen C Groft, Rashmi Gopal-Srivastava, Evan S Dellon, Sandeep K Gupta

Gastroenterology· October 2019

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Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data.
Stephen C Groft, Manuel Posada de la Paz

Adv Exp Med Biol· June 2018

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Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.
Domenica Taruscio, Giovanna Floridia, Marco Salvatore, Stephen C Groft, William A Gahl

Adv Exp Med Biol· June 2018

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Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Gareth Baynam, Faye Bowman, Karla Lister, Caroline E Walker, Nicholas Pachter, Stephen C Groft

Adv Exp Med Biol· June 2018

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A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC).
Christine M Cutillo, Christopher P Austin, Stephen C Groft

Adv Exp Med Biol· June 2018

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Preparing for the Future of Rare Diseases.
Stephen C Groft, Manuel Posada de la Paz

Adv Exp Med Biol· June 2018

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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Kym M Boycott, Ana Rath, Jessica X Chong, Taila Hartley, Fowzan S Alkuraya, Stephen C Groft

Am J Hum Genet· May 2017

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Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.
Domenica Taruscio, Stephen C Groft, Helene Cederroth, Béla Melegh, Paul Lasko

Mol Genet Metab· December 2015

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Clinical Trial Design for Alpha-1 Antitrypsin Deficiency: A Model for Rare Diseases.
Adam Wanner, Stephen C Groft, J Russell Teagarden, Jeffrey Krischer, Barry R Davis

Chronic Obstr Pulm Dis· April 2015

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The Rare Diseases Clinical Research Network's organization and approach to observational research and health outcomes research.
Jeffrey P Krischer, Rashmi Gopal-Srivastava, Stephen C Groft, David J Eckstein,

J Gen Intern Med· August 2014

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Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Kathryn M Camp, Melissa A Parisi, Phyllis B Acosta, Gerard T Berry, Deborah A Bilder, Stephen C Groft

Mol Genet Metab· June 2014

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Research into rare diseases of childhood.
Mark L Batshaw, Stephen C Groft, Jeffrey P Krischer

JAMA· May 2014

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A past with uncertainty, a future with hope--rare disease day 2014 from a USA perspective.
Stephen C Groft

Orphanet J Rare Dis· February 2014

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Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
Kathryn M Camp, Michele A Lloyd-Puryear, Lynne Yao, Stephen C Groft, Melissa A Parisi

Mol Genet Metab· August 2013

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Rare diseases research: expanding collaborative translational research opportunities.
Stephen C Groft

Chest· July 2013

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The need for worldwide policy and action plans for rare diseases.
John Forman, Domenica Taruscio, Virginia A Llera, Luis A Barrera, Timothy R Coté, Stephen C Groft

Acta Paediatr· August 2012

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Informed consent and patient registry for the rare disease community: Editorial.
Christine Grady, Yaffa R Rubinstein, Stephen C Groft

Contemp Clin Trials· January 2012

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Informed consent process for patient participation in rare disease registries linked to biorepositories.
Yaffa R Rubinstein, Stephen C Groft, Sara Hull Chandros, Julie Kaneshiro, Barbara Karp

Contemp Clin Trials· January 2012

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Clinical trials In BMT: ensuring that rare diseases and rarer therapies are well done.
Susan Shurin, Jeff Krischer, Stephen C Groft

Biol Blood Marrow Transplant· January 2012

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The case for a global rare-diseases registry.
Christopher B Forrest, Ronald J Bartek, Yaffa Rubinstein, Stephen C Groft

Lancet· March 2011

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Rare diseases - avoiding misperceptions and establishing realities: the need for reliable epidemiological data.
Stephen C Groft, Manuel Posada de la Paz

Adv Exp Med Biol· December 2010

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