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PEDIA: prioritization of exome data by image analysis
ISSN
1098-3600
Date Issued
2019
Author(s)
Hsieh, Tzung-Chien
Mensah, Martin A
Pantel, Jean T
Aguilar, Dione
Bar, Omri
Bayat, Allan
Becerra-Solano, Luis
Bentzen, Heidi B
Biskup, Saskia
Borisov, Oleg
Braaten, Oivind
Ciaccio, Claudia
Coutelier, Marie
Cremer, Kirsten
Danyel, Magdalena
Daschkey, Svenja
Eden, Hilda David
Devriendt, Koenraad
Wilson, Sandra
Douzgou, Sofia
Đukić, Dejan
Ehmke, Nadja
Fauth, Christine
Fischer-Zirnsak, Björn
Fleischer, Nicole
Gabriel, Heinz
Graul-Neumann, Luitgard
Gripp, Karen W
Gurovich, Yaron
Gusina, Asya
Haddad, Nechama
Hajjir, Nurulhuda
Hanani, Yair
Hertzberg, Jakob
Hoertnagel, Konstanze
Howell, Janelle
Ivanovski, Ivan
Kaindl, Angela
Kamphans, Tom
Kamphausen, Susanne
Karimov, Catherine
Kathom, Hadil
Keryan, Anna
Knaus, Alexej
Köhler, Sebastian
Lavrov, Alexander
Leitheiser, Maximilian
Lyon, Gholson J
Mangold, Elisabeth
Reina, Purificación Marín
Carrascal, Antonio Martinez
Mitter, Diana
Herrador, Laura Morlan
Nadav, Guy
Nöthen, Markus
Orrico, Alfredo
Ott, Claus-Eric
Park, Kristen
Peterlin, Borut
Pölsler, Laura
Raas-Rothschild, Annick
Randolph, Linda
Revencu, Nicole
Fagerberg, Christina Ringmann
Robinson, Peter Nick
Rosnev, Stanislav
Rudnik, Sabine
Rudolf, Gorazd
Schatz, Ulrich
Schossig, Anna
Schubach, Max
Shanoon, Or
Sheridan, Eamonn
Smirin-Yosef, Pola
Spielmann, Malte
Suk, Eun-Kyung
Sznajer, Yves
Thiel, Christian T
Thiel, Gundula
Verloes, Alain
Vrecar, Irena
Wahl, Dagmar
Weber, Ingrid
Winter, Korina
Wiśniewska, Marzena
Yeung, Ming W
Zhao, Max
Zhu, Na
Zschocke, Johannes
Mundlos, Stefan
Horn, Denise
Krawitz, Peter M
DOI
10.1038/s41436-019-0566-2
Abstract
Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists.
