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

Heidi CopeRebecca SpillmannJill A RosenfeldElly BrokampRebecca SignerKelly SchochEmily G KelleyJennifer A SullivanEllen MacnamaraSharyn LincolnKatie Golden-Grantnull nullJames P OrengoGary ClarkLindsay C BurrageJennifer E PoseyJaya PunethaAmy RobertsonJoy CoganJohn A PhillipsJulian A MartinezVandana Shashi
Published in: Molecular genetics & genomic medicine (2020)
These examples demonstrate that when a diagnosis is elusive, an iterative patient-specific approach utilizing assessment options available to clinical providers may solve a portion of cases. However, this does require increased provider time commitment, a particular challenge in the current practice of genomics.
Keyphrases
  • primary care
  • healthcare
  • single cell
  • quality improvement
  • magnetic resonance imaging
  • magnetic resonance
  • cell fate
  • dual energy