Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

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TitlePhenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Publication TypeJournal Article
AuthorsBastarache, L, Hughey, JJ, Hebbring, S, Marlo, J, Zhao, W, Ho, WT, Van Driest, SL, McGregor, TL, Mosley, JD, Wells, QS, Temple, M, Ramirez, AH, Carroll, R, Osterman, T, Edwards, T, Ruderfer, D, Edwards, DRVelez, Hamid, R, Cogan, J, Glazer, A, Wei, W-Q, Feng, QP, Brilliant, M, Zhao, ZJ, Cox, NJ, Roden, DM, Denny, JC
PubMed ID29590070
PubMed Central IDPMC5959723
Grant ListUL1 TR000445 / TR / NCATS NIH HHS / United States
T32 HG008341 / HG / NHGRI NIH HHS / United States
R01 GM120523 / GM / NIGMS NIH HHS / United States
T15 LM007450 / LM / NLM NIH HHS / United States
R01 LM010685 / LM / NLM NIH HHS / United States
U01 HG004603 / HG / NHGRI NIH HHS / United States
T15 LM007359 / LM / NLM NIH HHS / United States
U01 HG008672 / HG / NHGRI NIH HHS / United States
R01 HL133786 / HL / NHLBI NIH HHS / United States
R01 GM114128 / GM / NIGMS NIH HHS / United States
P50 GM115305 / GM / NIGMS NIH HHS / United States
U01 HG006378 / HG / NHGRI NIH HHS / United States
UL1 RR024975 / RR / NCRR NIH HHS / United States
U01 HG009086 / HG / NHGRI NIH HHS / United States