Publications:

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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

Publication Date: 2022-08-12

Variant appearance in text: rs45517360

PubMed Link: 36010895

Variant Present in the following documents:

• cancers-14-03902.pdf

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: TSC2: 4672G>A

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: TSC2: 4672G>A

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

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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

Publication Date: 2021-04-01

Variant appearance in text: TSC2: E1558K

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TSC2: 4672G>A; E1558K

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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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

Publication Date: 2020-06-18

Variant appearance in text: TSC2: Glu1558Lys

PubMed Link: 32555378

Variant Present in the following documents:

• Main text
• 41598_2020_Article_66588.pdf
• 41598_2020_66588_MOESM1_ESM.pdf

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Brain Somatic Mutations in Epileptic Disorders.

Molecules And Cells

Koh, Hyun Yong HY; Lee, Jeong Ho JH

Publication Date: 2018-10-31

Variant appearance in text: TSC2: 4672G>A

PubMed Link: 30352490

Variant Present in the following documents:

• Main text
• molce-41-10-881.pdf

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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

Publication Date: 2017-12-26

Variant appearance in text: TSC2: E1558K

PubMed Link: 29281825

Variant Present in the following documents:

• Main text

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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

Publication Date: 2013-03-20

Variant appearance in text: TSC2: E1558K

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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