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

doi:10.1002/mgg3.1397

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

Molecular genetics & genomic medicine - 1 Oct 2020

Cope Heidi, Spillmann Rebecca, Rosenfeld Jill A, Brokamp Elly, Signer Rebecca, Schoch Kelly, Glanton Emily, Sullivan Jennifer A, Macnamara Ellen, Lincoln Sharyn, Golden-Grant Katie, Orengo James P, Clark Gary, Burrage Lindsay C, Posey Jennifer E, Punetha Jaya, Robertson Amy, Cogan Joy, Phillips John A, Martinez-Agosto Julian, Shashi Vandana

Abstract excerpt

BACKGROUND: 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...

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PMID: 32730690
DOI: 10.1002/mgg3.1397
PMCID: PMC7549585

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