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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2.
Genome Med. 2023.
PMID: 37679823
Free PMC article.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong SN, Pearson TS, Zafeiriou DI, Kulhánek J, Kurian MA, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri HS, Leuzzi V, Hoffmann GF, Jeltsch K, Hübschmann D, Garbade SF; iNTD Registry Study Group; García-Cazorla A, Opladen T.
Kuseyri Hübschmann O, et al.
Nat Commun. 2021 Sep 20;12(1):5529. doi: 10.1038/s41467-021-25515-5.
Nat Commun. 2021.
PMID: 34545092
Free PMC article.
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