Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: PTEN: 723T>G; Phe241Leu
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Npj Genomic Medicine
Loureiro, Livia O LO; Howe, Jennifer L JL; Reuter, Miriam S MS; Iaboni, Alana A; Calli, Kristina K; Roshandel, Delnaz D; Pritišanac, Iva I; Moses, Alan A; Forman-Kay, Julie D JD; Trost, Brett B; Zarrei, Mehdi M; Rennie, Olivia O; Lau, Lynette Y S LYS; Marshall, Christian R CR; Srivastava, Siddharth S; Godlewski, Brianna B; Buttermore, Elizabeth D ED; Sahin, Mustafa M; Hartley, Dean D; Frazier, Thomas T; Vorstman, Jacob J; Georgiades, Stelios S; Lewis, Suzanne M E SME; Szatmari, Peter P; Bradley, Clarrisa A Lisa CAL; Tabet, Anne-Claude AC; Willems, Marjolaine M; Lumbroso, Serge S; Piton, Amélie A; Lespinasse, James J; Delorme, Richard R; Bourgeron, Thomas T; Anagnostou, Evdokia E; Scherer, Stephen W SW
White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.
Nature Communications
Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE
Applied diagnostics in liver cancer. Efficient combinations of sorafenib with targeted inhibitors blocking AKT/mTOR.
Oncotarget
Llerena, Susana S; García-Díaz, Nuria N; Curiel-Olmo, Soraya S; Agraz-Doblas, Antonio A; García-Blanco, Agustín A; Pisonero, Helena H; Varela, María M; Santibáñez, Miguel M; Almaraz, Carmen C; Cereceda, Laura L; Martínez, Nerea N; Arias-Loste, María Teresa MT; Puente, Ángela Á; Martín-Ramos, Luis L; de Lope, Carlos Rodríguez CR; Castillo-Suescun, Federico F; Cagigas-Fernandez, Carmen C; Isidro, Pablo P; Lopez-López, Carlos C; Lopez-Hoyos, Marcos M; Llorca, Javier J; Agüero, Jesús J; Crespo-Facorro, Benedicto B; Varela, Ignacio I; Piris, Miguel Ángel MÁ; Crespo, Javier J; Vaqué, José Pedro JP
Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.
Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Discovery of novel AKT inhibitors with enhanced anti-tumor effects in combination with the MEK inhibitor.
Plos One
Dumble, Melissa M; Crouthamel, Ming-Chih MC; Zhang, Shu-Yun SY; Schaber, Michael M; Levy, Dana D; Robell, Kimberly K; Liu, Qi Q; Figueroa, David J DJ; Minthorn, Elisabeth A EA; Seefeld, Mark A MA; Rouse, Meagan B MB; Rabindran, Sridhar K SK; Heerding, Dirk A DA; Kumar, Rakesh R