Accurate distinction of pathogenic from benign CNVs in mental retardation. by Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman

Get full text

Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands by Tessa J. J. de Bitter, Maartje J. Geerlings, Leonie I. Kroeze, Daniel von Rhein, Milou M. F. Schuurbiers, Janne M. Bibbe, Joyce A. M. G. Smeijers, Hicham Ouchene, Christian Gilissen, Tom G. J. Hofste, Marjan M. Weiss, Longkankernet, Lisenka E. L. M. Vissers, Michel M. van den Heuvel, Marjolijn J. L. Ligtenberg

Get full text

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

Get full text

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

Get full text

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

Get full text