A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing-Reference-Cited by-同舟云学术

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing

Published:2019-04 Issue:2 Volume:28 Page:213-228
ISSN:1059-7700
Container-title:Journal of Genetic Counseling
language:en
Short-container-title:J Genet Couns

Author:

Zastrow Diane B.¹^ORCID,Kohler Jennefer N.¹^ORCID,Bonner Devon¹^ORCID,Reuter Chloe M.¹^ORCID,Fernandez Liliana¹,Grove Megan E.²^ORCID,Fisk Dianna G.²,Yang Yaping³,Eng Christine M.³,Ward Patricia A.³,Bick David⁴^ORCID,Worthey Elizabeth A.⁴,Fisher Paul G.¹⁵⁶^ORCID,Ashley Euan A.¹²⁷⁸,Bernstein Jonathan A.¹⁶^ORCID,Wheeler Matthew T.¹⁸^ORCID,

Affiliation:

1. Center for Undiagnosed Diseases; Stanford University; Stanford California

2. Clinical Genomics Program; Stanford Health Care; Stanford California

3. Baylor College of Medicine; Houston Texas

4. HudsonAlpha Institute for Biotechnology; Huntsville Alabama

5. Department of Neurology; Stanford University School of Medicine; Stanford California

6. Department of Pediatrics; Stanford University School of Medicine; Stanford California

7. Department of Genetics; Stanford University School of Medicine; Stanford California

8. Department of Medicine; Stanford University School of Medicine; Stanford California

Funder

National Institutes of Health

National Center for Advancing Translational Sciences, NIH

Publisher

Wiley

Subject

Genetics(clinical)

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jgc4.1119/fullpdf

Reference61 articles.

1. whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy;Bagnall;Journal of the American College of Cardiology,2018

2. Distinguishing variant pathogenicity from genetic diagnosis: How to know whether a variant causes a condition;Biesecker;The Journal of the American Medical Association,2018

3. AMELIE accelerates mendelian patient diagnosis directly from the primary literature;Birgmeier;bioRxiv,2017

4. A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome;Blumkin;Journal of Neurology,2012

5. Association between genetic variation of CACNA1H and childhood absence epilepsy;Chen;Annals of Neurology,2003

Cited by 12 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. Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications;European Journal of Human Genetics;2024-03-14

2. Prenatal exome sequencing analysis in fetuses with central nervous system anomalies;Ultrasound in Obstetrics & Gynecology;2023-11

3. Multi-omics techniques for the genetic and epigenetic analysis of rare diseases;Journal of Genetic Medicine;2023-06-30

4. A brief insight into the rare diseases in Egypt;Journal of Rare Diseases;2023-05-01

5. Participation in a national diagnostic research study: assessing the patient experience;Orphanet Journal of Rare Diseases;2023-04-10