Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: HOMEZ: 1614T>A; Asp538Glu
Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
Plos One
Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E
Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
Plos One
Ozgencil, Meryem M; Barwell, Julian J; Tischkowitz, Marc M; Izatt, Louise L; Kesterton, Ian I; Simpson, Michael M; Sharpe, Paul P; de Sepulveda, Paulo P; Voisset, Edwige E; Solomon, Ellen E
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
Nature Communications
He, Chen C; Xu, Ke K; Zhu, Xiaoyan X; Dunphy, Paige S PS; Gudenas, Brian B; Lin, Wenwei W; Twarog, Nathaniel N; Hover, Laura D LD; Kwon, Chang-Hyuk CH; Kasper, Lawryn H LH; Zhang, Junyuan J; Li, Xiaoyu X; Dalton, James J; Jonchere, Barbara B; Mercer, Kimberly S KS; Currier, Duane G DG; Caufield, William W; Wang, Yingzhe Y; Xie, Jia J; Broniscer, Alberto A; Wetmore, Cynthia C; Upadhyaya, Santhosh A SA; Qaddoumi, Ibrahim I; Klimo, Paul P; Boop, Frederick F; Gajjar, Amar A; Zhang, Jinghui J; Orr, Brent A BA; Robinson, Giles W GW; Monje, Michelle M; Freeman Iii, Burgess B BB; Roussel, Martine F MF; Northcott, Paul A PA; Chen, Taosheng T; Rankovic, Zoran Z; Wu, Gang G; Chiang, Jason J; Tinkle, Christopher L CL; Shelat, Anang A AA; Baker, Suzanne J SJ
Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.
Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Oncotarget
Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP