Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network-Reference-Cited by-同舟云学术

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Published:2020-07-30 Issue:10 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Cope Heidi¹^ORCID,Spillmann Rebecca¹,Rosenfeld Jill A.²,Brokamp Elly³,Signer Rebecca⁴,Schoch Kelly¹,Kelley Emily G.⁵,Sullivan Jennifer A.¹^ORCID,Macnamara Ellen⁶,Lincoln Sharyn⁷,Golden‐Grant Katie⁸,Orengo James P.⁹,Clark Gary⁹,Burrage Lindsay C.²^ORCID,Posey Jennifer E.²^ORCID,Punetha Jaya²,Robertson Amy³,Cogan Joy³,Phillips John A.³,Martinez‐Agosto Julian⁴^ORCID,Shashi Vandana¹,

Affiliation:

1. Division of Medical Genetics Department of Pediatrics Duke University Medical Center Durham NC USA

2. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA

3. Division of Medical Genetics and Genomic Medicine Vanderbilt University Medical Center Nashville TN USA

4. Department of Human Genetics University of California Los Angeles CA USA

5. Department of Biomedical Informatics Harvard Medical School Boston MA USA

6. Undiagnosed Diseases Program Common Fund Office of the Director National Institutes of HealthNIH Bethesda MD USA

7. Division of Genetics and Genomics Department of Pediatrics Boston Children’s Hospital Boston MA USA

8. Division of Medical Genetics University of Washington Seattle WA USA

9. Department of Neurology Baylor College of Medicine Houston TX USA

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1397

Reference59 articles.

1. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

2. Genetic counselor workflow study: The times are they a-changin’?

3. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

4. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

5. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

Cited by 17 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. Genotypic and phenotypic analysis of 173 patients with extremely rare pathogenic mutations who applied for experimental antisense oligonucleotide treatment;2024-08-06

2. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing;American Journal of Medical Genetics Part A;2024-01-02

3. Attaining Diagnostic Excellence;Medical Clinics of North America;2024-01

4. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care;The Journal of Pediatrics;2023-10

5. A way forward for diagnosis of patients with extremely rare genetic mutations;Nature Biotechnology;2023-07-17