Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

Kelly SchochCecilia EstevesAnna BicanRebecca SpillmannHeidi CopeAllyn McConkie-RosellNicole WalleyLiliana FernandezJennefer N KohlerDevon BonnerChloe ReuterNicholas StongJohn J MulvihillDonna NovacicLynne WolfeAyat AbdelbakiCamilo ToroCyndi TifftMay MalicdanWilliam GahlPengfei LiuJohn NewmanDavid B GoldsteinJason HomJacinda SampsonMatthew T Wheelernull nullJoy CoganJonathan A BernsteinDavid R AdamsAlexa T McCrayVandana Shashi

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Investigations driven by the clinical sites identified diagnostic and research paradigms that surpass standard diagnostic processes. The new diagnoses, disease gene discoveries, and delineation of novel disorders represent a model for genomic medicine and science.

Keyphrases

copy number
transcription factor