1. Germline Platelet-derived growth factor receptor beta p.R987W pathogenic variant in 2 children with brain tumors. Issue 1 (14th April 2023) Authors: Han, HyeRim; Renzi, Samuele; Larouche, Valerie; Faury, Damien; Langlois, Sylvie; Sinnett, Daniel; Gomez, Andrea; Karamchandani, Jason; Crevier, Louis; Foulkes, William D; Jabado, Nada Journal: Neuro-oncology advances Issue: Volume 5:Issue 1(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN DGCR8 CONFERS SUSCEPTIBILITY FOR SCHWANNOMATOSIS AND THYROID TUMORS. (4th December 2020) Authors: Chong, Anne-Sophie; Nadaf, Javad; Grau, Elia; Apellaniz-Ruiz, Maria; Fahiminiya, Somayyeh; Saskin, Avi; Han, HyeRim; Turcotte, Robert; Muchantef, Karl; Thomas, Christian; Wagener, Rabea; Bassenden, Angelia; Mete, Ozgur; Pusztaszeri, Marc; Paulus, Werner; Berghuis, Albert; Siebert, Reiner; Albrech... Journal: Neuro-oncology Issue: Volume 22(2020)Supplement 3 Page Start: iii447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw. Issue 1 (December 2018) Authors: Gomes, Carolina; Gayden, Tenzin; Bajic, Andrea; Harraz, Osama; Pratt, Jonathan; Nikbakht, Hamid; Bareke, Eric; Diniz, Marina; Castro, Wagner; St-Onge, Pascal; Sinnett, Daniel; Han, HyeRim; Rivera, Barbara; Mikael, Leonie; Jay, Nicolas; Kleinman, Claudia; Valera, Elvis; Bassenden, Angelia; Berghui... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗