PEDIA: prioritization of exome data by image analysis

Hsieh, T-C, Mensah, MA, Pantel, JT et al. (91 more authors) (2019) PEDIA: prioritization of exome data by image analysis. Genetics in Medicine, 21 (12). pp. 2807-2814. ISSN 1098-3600

Abstract

Metadata

Authors/Creators:
  • Hsieh, T-C
  • Mensah, MA
  • Pantel, JT
  • Aguilar, D
  • Bar, O
  • Bayat, A
  • Becerra-Solano, L
  • Bentzen, HB
  • Biskup, S
  • Borisov, O
  • Braaten, O
  • Ciaccio, C
  • Coutelier, M
  • Cremer, K
  • Danyel, M
  • Daschkey, S
  • Eden, HD
  • Devriendt, K
  • Wilson, S
  • Douzgou, S
  • Đukić, D
  • Ehmke, N
  • Fauth, C
  • Fischer-Zirnsak, B
  • Fleischer, N
  • Gabriel, H
  • Graul-Neumann, L
  • Gripp, KW
  • Gurovich, Y
  • Gusina, A
  • Haddad, N
  • Hajjir, N
  • Hanani, Y
  • Hertzberg, J
  • Hoertnagel, K
  • Howell, J
  • Ivanovski, I
  • Kaindl, A
  • Kamphans, T
  • Kamphausen, S
  • Karimov, C
  • Kathom, H
  • Keryan, A
  • Knaus, A
  • Köhler, S
  • Kornak, U
  • Lavrov, A
  • Leitheiser, M
  • Lyon, GJ
  • Mangold, E
  • Reina, PM
  • Carrascal, AM
  • Mitter, D
  • Herrador, LM
  • Nadav, G
  • Nöthen, M
  • Orrico, A
  • Ott, C-E
  • Park, K
  • Peterlin, B
  • Pölsler, L
  • Raas-Rothschild, A
  • Randolph, L
  • Revencu, N
  • Fagerberg, CR
  • Robinson, PN
  • Rosnev, S
  • Rudnik, S
  • Rudolf, G
  • Schatz, U
  • Schossig, A
  • Schubach, M
  • Shanoon, O
  • Sheridan, E https://orcid.org/0000-0002-7237-6280
  • Smirin-Yosef, P
  • Spielmann, M
  • Suk, E-K
  • Sznajer, Y
  • Thiel, CT
  • Thiel, G
  • Verloes, A
  • Vrecar, I
  • Wahl, D
  • Weber, I
  • Winter, K
  • Wiśniewska, M
  • Wollnik, B
  • Yeung, MW
  • Zhao, M
  • Zhu, N
  • Zschocke, J
  • Mundlos, S
  • Horn, D
  • Krawitz, PM
Copyright, Publisher and Additional Information: © The Author(s) 2019. This is an open access article under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) (https://creativecommons.org/licenses/by/4.0/)
Keywords: deep learning; computer vision; dysmorphology; variant prioritization; exome diagnostics
Dates:
  • Published: December 2019
  • Accepted: 23 May 2019
  • Published (online): 5 June 2019
Institution: The University of Leeds
Depositing User: Symplectic Publications
Date Deposited: 17 Feb 2020 13:55
Last Modified: 17 Feb 2020 13:55
Status: Published
Publisher: BMC
Identification Number: https://doi.org/10.1038/s41436-019-0566-2

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