1. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. (January 2018) Authors: Jansen, Sandra; Hoischen, Alexander; Coe, Bradley; Carvill, Gemma; Esch, Hilde; Bosch, Daniëlle; Andersen, Ulla; Baker, Carl; Bauters, Marijke; Bernier, Raphael; Bon, Bregje; Claahsen-van der Grinten, Hedi; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Author Correction: Parent-of-origin-specific signatures of de novo mutations. (November 2018) Authors: Goldmann, Jakob; Wong, Wendy; Pinelli, Michele; Farrah, Terry; Bodian, Dale; Stittrich, Anna; Glusman, Gustavo; Vissers, Lisenka; Hoischen, Alexander; Roach, Jared; Vockley, Joseph; Veltman, Joris; Solomon, Benjamin; Gilissen, Christian; Niederhuber, John Journal: Nature genetics Issue: Volume 50:Number 11(2018) Page Start: 1615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data. Issue 17 (17th June 2022) Authors: Khazeeva, Gelana; Sablauskas, Karolis; van der Sanden, Bart; Steyaert, Wouter; Kwint, Michael; Rots, Dmitrijs; Hinne, Max; van Gerven, Marcel; Yntema, Helger; Vissers, Lisenka; Gilissen, Christian Journal: Nucleic acids research Issue: Volume 50:Issue 17(2022) Page Start: e97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗