1. Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. (13th March 2014) Authors: Bernkopf, Marie; Webersinke, Gerald; Tongsook, Chanakan; Koyani, Chintan N.; Rafiq, Muhammad A.; Ayaz, Muhammad; Müller, Doris; Enzinger, Christian; Aslam, Muhammad; Naeem, Farooq; Schmidt, Kurt; Gruber, Karl; Speicher, Michael R.; Malle, Ernst; Macheroux, Peter; Ayub, Muhammad; Vincent, John B.;... Journal: Human molecular genetics Issue: Volume 23:Number 15(2014:Aug. 01) Page Start: 4015 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Frequency and Prognostic Impact of ALK Amplifications and Mutations in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1). Issue 30 (20th October 2021) Authors: Bellini, Angela; Pötschger, Ulrike; Bernard, Virginie; Lapouble, Eve; Baulande, Sylvain; Ambros, Peter F.; Auger, Nathalie; Beiske, Klaus; Bernkopf, Marie; Betts, David R.; Bhalshankar, Jaydutt; Bown, Nick; de Preter, Katleen; Clément, Nathalie; Combaret, Valérie; Font de Mora, Jaime; George, Sal... Journal: Journal of clinical oncology Issue: Volume 39:Issue 30(2021) Page Start: 3377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. Issue 10 (6th July 2017) Authors: Bernkopf, Marie; Hunt, David; Koelling, Nils; Morgan, Tim; Collins, Amanda L.; Fairhurst, Joanna; Robertson, Stephen P.; Douglas, Andrew G. L.; Goriely, Anne Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: 1360 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors. Issue 8 (26th July 2019) Authors: Maher, Geoffrey J; Bernkopf, Marie; Koelling, Nils; Wilkie, Andrew O M; Meistrich, Marvin L; Goriely, Anne Journal: Human reproduction Issue: Volume 34:Issue 8(2019) Page Start: 1404 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗