A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers-Reference-Cited by-同舟云学术

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Published:2019-03 Issue:1 Volume:177 Page:32-37
ISSN:0092-8674
Container-title:Cell
language:en
Short-container-title:Cell

Author:

Boycott Kym M.,Hartley Taila,Biesecker Leslie G.,Gibbs Richard A.,Innes A. Micheil,Riess Olaf,Belmont John,Dunwoodie Sally L.,Jojic Nebojsa,Lassmann Timo,Mackay Deborah,Temple I. Karen,Visel Axel,Baynam Gareth

Funder

European FP7

Genome Canada

CIHR

European Union Horizon 2020 Program

National Human Genome Research Institute

NHMRC

National Institutes of Health

Angela Wright Bennett Foundation

McCusker Charitable Foundation

Roy Hill Community Foundation

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology

Reference15 articles.

1. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes;Aref-Eshghi;Am. J. Hum. Genet.,2018

2. Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective;Austin;Clin. Transl. Sci.,2018

3. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project;Beaulieu;Am. J. Hum. Genet.,2014

4. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases;Boycott;Am. J. Hum. Genet.,2017

5. Unsolved recognizable patterns of human malformation: Challenges and opportunities;Boycott;Am. J. Med. Genet. C. Semin. Med. Genet.,2018

Cited by 112 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases;Orphanet Journal of Rare Diseases;2024-09-11

2. RNA variant assessment using transactivation and transdifferentiation;The American Journal of Human Genetics;2024-08

3. Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe);Lab Animal;2024-06-24

4. Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis;2024-06-17

5. Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots;Molecular Genetics and Metabolism Reports;2024-06