Undiagnosed Hackathons: Ending the diagnostic odyssey for individuals with rare disease by Helene Cederroth, Mikk Cederroth, Gareth Baynam, David A. Pearce, Alexander Hoischen, Lisenka ELM Vissers, Wendy AG van Zelst-Stams

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Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline. by Eleni Giannoulatou, Geoffrey J Maher, Zhihao Ding, Ad J M Gillis, Lambert C J Dorssers, Alexander Hoischen, Ewa Rajpert-De Meyts, WGS500 Consortium, Gilean McVean, Andrew O M Wilkie, Leendert H J Looijenga, Anne Goriely

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Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment. by Pía Villanueva, Ron Nudel, Alexander Hoischen, María Angélica Fernández, Nuala H Simpson, Christian Gilissen, Rose H Reader, Lillian Jara, María Magdalena Echeverry, Clyde Francks, Gillian Baird, Gina Conti-Ramsden, Anne O'Hare, Patrick F Bolton, Elizabeth R Hennessy, SLI Consortium, Hernán Palomino, Luis Carvajal-Carmona, Joris A Veltman, Jean-Baptiste Cazier, Zulema De Barbieri, Simon E Fisher, Dianne F Newbury

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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. by Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

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