Author details

Full Name

Anne R Pariser

Affiliation

National Center for Advancing Translational Sciences, National Institutes of Health

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36694456	Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience.	Hum Gene Ther	2023
37161573	Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.	Orphanet J Rare Dis	2023
34809862	Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities.	PET Clin	2022
35471559	Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases.	Ther Innov Regul Sci	2022
35414039	The national economic burden of rare disease in the United States in 2019.	Orphanet J Rare Dis	2022
34794473	Scientific evidence based rare disease research discovery with research funding data in knowledge graph.	Orphanet J Rare Dis	2021
34674728	The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.	Orphanet J Rare Dis	2021
32226924	Recent Advances in Systems and Network Medicine: Meeting Report from the First International Conference in Systems and Network Medicine.	Syst Med (New Rochelle)	2020
33183351	An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD).	J Biomed Semantics	2020
33147635	Leveraging the UMLS As a Data Standard for Rare Disease Data Normalization and Harmonization.	Methods Inf Med	2020
33006565	Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study.	JMIR Med Inform	2020
32993373	The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup.	Hum Gene Ther	2020
31548702	A framework for the investigation of rare genetic disorders in neuropsychiatry.	Nat Med	2019
30168024	Understanding the evolving phenotype of vascular complications in telomere biology disorders.	Angiogenesis	2019
29048983	Representation of Women and Minorities in Clinical Trials for New Molecular Entities and Original Therapeutic Biologics Approved by FDA CDER from 2013 to 2015.	J Womens Health (Larchmt)	2018
30400963	From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.	Orphanet J Rare Dis	2018
26928739	A role for plasma cell targeting agents in immune tolerance induction in autoimmune disease and antibody responses to therapeutic proteins.	Clin Immunol	2016
26597321	Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.	Mol Genet Metab	2016
26911627	Investigational New Drug applications: a 1-year pilot study on rates and reasons for clinical hold.	J Investig Med	2016
30222408	Pre-Investigational New Drug Meetings With the FDA: Evaluation of Meeting Content and Characteristics of Applications for New Drug and Biologic Products.	Ther Innov Regul Sci	2015
24667081	Phenylketonuria Scientific Review Conference: state of the science and future research needs.	Mol Genet Metab	2014
25029971	Important role of translational science in rare disease innovation, discovery, and drug development.	J Gen Intern Med	2014
22253234	The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease.	Am J Med Genet C Semin Med Genet	2012
22718862	Rare cancer trial design: lessons from FDA approvals.	Clin Cancer Res	2012
22857796	Cross-sector sponsorship of research in eosinophilic esophagitis: a collaborative model for rational drug development in rare diseases.	J Allergy Clin Immunol	2012
22564486	Characteristics of rare disease marketing applications associated with FDA product approvals 2006-2010.	Drug Discov Today	2012
21176882	Research challenges in central nervous system manifestations of inborn errors of metabolism.	Mol Genet Metab	2011
22037026	Clinical pharmacology as a cornerstone of orphan drug development.	Nat Rev Drug Discov	2011
21524390	Regulatory considerations for developing drugs for rare diseases: orphan designations and early phase clinical trials.	Discov Med	2011
20566615	Therapies for inborn errors of metabolism: what has the orphan drug act delivered?	Pediatrics	2010
21119719	Accelerating orphan drug development.	Nat Rev Drug Discov	2010
21178132	Training the translational scientist.	Sci Transl Med	2010
18688246	Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment.	Nat Biotechnol	2008

1 - 33 of 33

Lang Li

College of Medicine, The Ohio State University

Career Start Year 2018

Number of shared co-authors 0

Nicole M Zaleski

Career Start Year 2017

Number of shared co-authors 0

Victoria Hedley

John Walton Muscular Dystrophy Research Centre, Newcastle University

Career Start Year 2016

Number of shared co-authors 8

Simon Lin

The Abigail Wexner Research Institute, Nationwide Children's Hospital

Career Start Year 2015

Number of shared co-authors 0

Matthew Might

Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham

Career Start Year 2014

Number of shared co-authors 7

Monika E Grabowska

Vanderbilt University Medical Center

Career Start Year 2014

Number of shared co-authors 0

Yann Le Cam

Career Start Year 2012

Number of shared co-authors 9

Nicholas S Downing

Center for Outcomes Research and Evaluation, Yale-New Haven Hospital

Career Start Year 2012

Number of shared co-authors 0

Yue Yu

Health Sciences Mayo Clinic

Career Start Year 2012

Number of shared co-authors 0

Nicole Vasilevsky

Critical Path Institute

Career Start Year 2011

Number of shared co-authors 6

Nicholas P Tatonetti

Columbia Universtiy College of Physicians and Surgeons

Career Start Year 2009

Number of shared co-authors 1

Ana Rath

INSERM

Career Start Year 2008

Number of shared co-authors 11

Elizabeth Stewart

St Jude Children's Research Hospital

Career Start Year 2006

Number of shared co-authors 0

Jessica D Tenenbaum

Duke University

Career Start Year 2006

Number of shared co-authors 3

Joel T Dudley

Institute for Next Generation Healthcare

Career Start Year 2006

Number of shared co-authors 3

Jill M Pulley

Vanderbilt University School of Medicine

Career Start Year 2005

Number of shared co-authors 1

Florence T Bourgeois

Boston Children's Hospital

Career Start Year 2002

Number of shared co-authors 1

Rebecca N Jerome

12328Vanderbilt University Medical Center

Career Start Year 2001

Number of shared co-authors 2

Todd A Durham

Foundation Fighting Blindness

Career Start Year 2001

Number of shared co-authors 0

Eric W Klee

Mayo Clinic College of Medicine and Science

Career Start Year 2001

Number of shared co-authors 1

Aaron S Kesselheim

Brigham and Women's Hospital.

Career Start Year 2001

Number of shared co-authors 0

Robert R Freimuth

Center for Individualized Medicine, Mayo Clinic

Career Start Year 2000

Number of shared co-authors 6

Salvatore La Rosa

university of massachusetts amherst Chan Medical School

Career Start Year 1998

Number of shared co-authors 0

Carolyn Riley Chapman

Center for Human Genetics and Genomics, NYU Grossman School of Medicine

Career Start Year 1997

Number of shared co-authors 0

Yaffa Rubinstein

National Institutes of Health (NIH)

Career Start Year 1992

Number of shared co-authors 8

Bruce C Carleton

BC Children's Hospital Research Institute

Career Start Year 1991

Number of shared co-authors 2

Isaac S Kohane

Harvard Medical School

Career Start Year 1983

Number of shared co-authors 7

Russ B Altman

Stanford University

Career Start Year 1982

Number of shared co-authors 6

Jeffrey P Krischer

Health Informatics Institute, University of South Florida

Career Start Year 1971

Number of shared co-authors 6

row(s) 1 - 29 of 29

Eric Sid

National Center for Advancing Translational Sciences, National Institutes of Health

Co-authored papers 4

Dac-Trung Nguyen

Co-authored papers 3

Stephen C Groft

National Center for Advancing Translational Sciences, National Institutes of Health

Co-authored papers 3

Christopher P Austin

St. George's University Medical School

Co-authored papers 2

Danilo A Tagle

Co-authored papers 2

James M Provenzale

Duke University Medical Center

Co-authored papers 1

Michael A Morris

Clinical Center, National Institutes of Health

Co-authored papers 1

Melissa A Haendel

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 1

Paul Avillach

Harvard Medical School

Co-authored papers 1

Domenica Taruscio

National Center for Rare Diseases, Istituto Superiore di Sanita

Co-authored papers 1

Timothy R D J Radstake

Co-authored papers 1

David C Glahn

Co-authored papers 1

David B Goldstein