Improvements in Quality Control and Library Preparation for Targeted Sequencing Allowed Detection of Potentially Pathogenic Alterations in Circulating Cell-Free DNA Derived from Plasma of Brain Tumor Patients.
Cancers
Szadkowska, Paulina P; Roura, Adria-Jaume AJ; Wojtas, Bartosz B; Wojnicki, Kamil K; Licholai, Sabina S; Waller, Tomasz T; Gubala, Tomasz T; Zukowski, Kacper K; Karpeta, Michal M; Wilkus, Kinga K; Kaspera, Wojciech W; Nawrocki, Sergiusz S; Kaminska, Bozena B
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Scientific Reports
Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
Cell Reports
D'Gama, Alissa M AM; Woodworth, Mollie B MB; Hossain, Amer A AA; Bizzotto, Sara S; Hatem, Nicole E NE; LaCoursiere, Christopher M CM; Najm, Imad I; Ying, Zhong Z; Yang, Edward E; Barkovich, A James AJ; Kwiatkowski, David J DJ; Vinters, Harry V HV; Madsen, Joseph R JR; Mathern, Gary W GW; Blümcke, Ingmar I; Poduri, Annapurna A; Walsh, Christopher A CA
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V