Publications by authors named "Stephen Groft"

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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.
Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L Cellai, Stephen Groft

Front Public Health· May 2025

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Global health for rare diseases through primary care.
Gareth Baynam, Adam L Hartman, Mary Catherine V Letinturier, Matt Bolz-Johnson, Prescilla Carrion, Stephen Groft

Lancet Glob Health· July 2024

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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L Cellai, Stephen Groft

Front Public Health· November 2023

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Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Stephen Groft

Orphanet J Rare Dis· May 2023

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Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Claudio Carta, Laura L Cellai, Stephen Groft

Front Public Health· March 2023

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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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Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group.
William A Gahl, Durhane Wong-Rieger, Virginie Hivert, Rachel Yang, Galliano Zanello, Stephen Groft

Orphanet J Rare Dis· July 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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A call for global action for rare diseases in Africa.
Gareth S Baynam, Stephen Groft, Francois H van der Westhuizen, Safiyya D Gassman, Kelly du Plessis

Nat Genet· January 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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Initiating an undiagnosed diseases program in the Western Australian public health system.
Gareth Baynam, Stephanie Broley, Alicia Bauskis, Nicholas Pachter, Fiona McKenzie, Stephen Groft

Orphanet J Rare Dis· May 2017

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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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The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network.
Peter A Merkel, Michele Manion, Rashmi Gopal-Srivastava, Stephen Groft, H A Jinnah

Orphanet J Rare Dis· May 2016

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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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