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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-07-30 , DOI: 10.1002/mgg3.1397
Heidi Cope 1 , Rebecca Spillmann 1 , Jill A Rosenfeld 2 , Elly Brokamp 3 , Rebecca Signer 4 , Kelly Schoch 1 , Emily G Kelley 5 , Jennifer A Sullivan 1 , Ellen Macnamara 6 , Sharyn Lincoln 7 , Katie Golden-Grant 8 , 6 , James P Orengo 9 , Gary Clark 9 , Lindsay C Burrage 2 , Jennifer E Posey 2 , Jaya Punetha 2 , Amy Robertson 3 , Joy Cogan 3 , John A Phillips 3 , Julian Martinez-Agosto 4 , Vandana Shashi 1
Affiliation  

Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. While these resources do contribute to diagnoses in many cases, they are not always necessary to reach diagnostic resolution. The UDN experience has been that participants can also receive diagnoses through the thoughtful and customized application of approaches and resources that are readily available in clinical settings.

中文翻译:

遗漏的诊断:通过未诊断疾病网络解决的医学奥秘学到的与临床有关的经验教训。

未诊断疾病网络(UDN)中的资源,例如基因组测序(GS)和模型生物,有助于诊断和鉴定新的疾病基因,但目前临床提供者难以访问。尽管这些资源在许多情况下确实有助于诊断,但并非总能达到诊断分辨率。UDN的经验是,参与者还可以通过对临床环境中容易获得的方法和资源进行周到且定制的应用来接受诊断。
更新日期:2020-07-30
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