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收藏A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Denomme-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marcais, Nolwenn; Kleefstra, Tjitske; Lopez-Martin, Estrella; Macek, Milan, Jr.; Mencarelli, Maria Antonietta; Moutton, Sebastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Mau-Them, Frederic Tran; Trimouille, Aurelien; Votypka, Pavel; Vries, Bert B. A. de; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E. L. M.; Faivre, Laurence 分享 收藏 Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature剪接因子PUF60的显性变异导致可识别的综合征，包括智力障碍，心脏缺陷和身材矮小El Chehadeh, Salima; Kerstjens-Frederikse, Wilhelmina S.; Thevenon, Julien; Kuentz, Paul; Bruel, Ange-Line; Thauvin-Robinet, Christel; Bensignor, Candace; Dollfus, Helene; Laugel, Vincent; Riviere, Jean-Baptiste; Duffourd, Yannis; Bonnet, Caroline; Robert, Matthieu P.; Isaiko, Rodica; Straub, Morgane; Creuzot-Garcher, Catherine; Calvas, Patrick; Chassaing, Nicolas; Loeys, Bart; Reyniers, Edwin; Vandeweyer, Geert; Kooy, Frank; Hancarova, Miroslava; Havlovicova, Marketa; Prchalova, Darina; Sedlacek, Zdenek; Gilissen, Christian; Pfundt, Rolph; Wassink-Ruiter, Jolien S. Klein; Faivre, Laurence 分享 收藏 
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