A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network-Reference-Cited by-同舟云学术

A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network

Published:2018-05 Issue: Volume:196 Page:291-297.e2
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Reuter Chloe M.,Brimble Elise^ORCID,DeFilippo Colette,Dries Annika M.,Enns Gregory M.,Ashley Euan A.,Bernstein Jonathan A.,Fisher Paul Graham,Wheeler Matthew T.^ORCID

Funder

Office of Strategic Coordination

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference46 articles.

1. Two decades of orphan product development;Haffner;Nature,2002

2. A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network;Spillmann;Orphanet J Rare Dis,2017

3. “Is it going to hurt”: the impact of the diagnostic odyssey on children and their families;Carmichael;J Genet Couns,2015

4. The Undiagnosed Diseases Network of the National Institutes of Health: a national extension;Gahl;JAMA,2015

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

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1. Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease;Frontiers in Genetics;2022-08-22

2. Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences;Journal of Personalized Medicine;2022-07-29

3. Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics;American Journal of Medical Genetics Part A;2022-01-03

4. “Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey;Journal of Genetic Counseling;2021-06-06

5. Arrhythmogenic Cardiomyopathy: Mechanisms, Genetics, and Their Clinical Implications;Current Cardiovascular Risk Reports;2021-03-26