A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
作者信息
Reuter Chloe M, Brimble Elise, DeFilippo Colette, Dries Annika M, Enns Gregory M, Ashley Euan A, Bernstein Jonathan A, Fisher Paul Graham, Wheeler Matthew T
机构信息
Stanford Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.
出版信息
J Pediatr. 2018 May;196:291-297.e2. doi: 10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11.
Abstract
摘要
相似文献
1
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
J Pediatr. 2018 May;196:291-297.e2. doi: 10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11.
2
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26.
3
The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension.
JAMA. 2015 Nov 3;314(17):1797-8. doi: 10.1001/jama.2015.12249.
4
Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis.
Pediatr Clin North Am. 2017 Feb;64(1):265-272. doi: 10.1016/j.pcl.2016.08.017.
5
Medicine: Last chance clinic.
Nature. 2009 Aug 27;460(7259):1071-5. doi: 10.1038/4601071a.
6
Data sharing in the undiagnosed diseases network.
Hum Mutat. 2015 Oct;36(10):985-8. doi: 10.1002/humu.22840. Epub 2015 Aug 27.
7
Ending the Diagnostic Odyssey-Is Whole-Genome Sequencing the Answer?
JAMA Pediatr. 2020 Sep 1;174(9):821-822. doi: 10.1001/jamapediatrics.2020.1522.
8
Patient perspectives on whole-genome sequencing for undiagnosed diseases.
Per Med. 2017 Jan;14(1):17-25. doi: 10.2217/pme-2016-0050. Epub 2016 Nov 30.
9
The NIH Undiagnosed Diseases Program: bonding scientists and clinicians.
Dis Model Mech. 2012 Jan;5(1):3-5. doi: 10.1242/dmm.009258.
10
The National Institutes of Health undiagnosed diseases program.
Curr Opin Pediatr. 2014 Dec;26(6):626-33. doi: 10.1097/MOP.0000000000000155.
引用本文的文献
1
Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.
Front Genet. 2022 Aug 22;13:949422. doi: 10.3389/fgene.2022.949422. eCollection 2022.
2
Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.
J Pers Med. 2022 Jul 29;12(8):1250. doi: 10.3390/jpm12081250.
3
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
Am J Med Genet A. 2022 Apr;188(4):1088-1101. doi: 10.1002/ajmg.a.62619. Epub 2022 Jan 3.
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.
J Genet Couns. 2021 Dec;30(6):1707-1718. doi: 10.1002/jgc4.1438. Epub 2021 Jun 6.
5
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
J Genet Couns. 2019 Dec;28(6):1107-1118. doi: 10.1002/jgc4.1161. Epub 2019 Sep 3.
6
The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases.
Hum Mol Genet. 2019 Nov 21;28(R2):R207-R214. doi: 10.1093/hmg/ddz135.
7
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
J Genet Couns. 2019 Apr;28(2):213-228. doi: 10.1002/jgc4.1119.
8
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.
9
Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits.
Am J Hum Genet. 2018 Oct 4;103(4):535-552. doi: 10.1016/j.ajhg.2018.08.017.
10
Recent Developments in Using as a Model for Human Genetic Disease.
Int J Mol Sci. 2018 Jul 13;19(7):2041. doi: 10.3390/ijms19072041.
本文引用的文献
1
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29.
2
Using high-resolution variant frequencies to empower clinical genome interpretation.
Genet Med. 2017 Oct;19(10):1151-1158. doi: 10.1038/gim.2017.26. Epub 2017 May 18.
3
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.
Orphanet J Rare Dis. 2017 Apr 17;12(1):71. doi: 10.1186/s13023-017-0623-3.
4
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26.
5
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22.
6
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29.
7
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
8
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.
Mol Cytogenet. 2016 Aug 2;9:55. doi: 10.1186/s13039-016-0269-1. eCollection 2016.
9
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4.
10
Delineation of the movement disorders associated with FOXG1 mutations.
Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30.
Zotero 插件