Publications:

---

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TSC2: L830R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

---

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer

Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY

Publication Date: 2020-10

Variant appearance in text: TSC2: L830R

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

View BVdb publication page

---

Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TSC2: L830R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

---

Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers.

Nature Medicine

Parikh, Aparna R AR; Leshchiner, Ignaty I; Elagina, Liudmila L; Goyal, Lipika L; Levovitz, Chaya C; Siravegna, Giulia G; Livitz, Dimitri D; Rhrissorrakrai, Kahn K; Martin, Elizabeth E EE; Van Seventer, Emily E EE; Hanna, Megan M; Slowik, Kara K; Utro, Filippo F; Pinto, Christopher J CJ; Wong, Alicia A; Danysh, Brian P BP; de la Cruz, Ferran Fece FF; Fetter, Isobel J IJ; Nadres, Brandon B; Shahzade, Heather A HA; Allen, Jill N JN; Blaszkowsky, Lawrence S LS; Clark, Jeffrey W JW; Giantonio, Bruce B; Murphy, Janet E JE; Nipp, Ryan D RD; Roeland, Eric E; Ryan, David P DP; Weekes, Colin D CD; Kwak, Eunice L EL; Faris, Jason E JE; Wo, Jennifer Y JY; Aguet, François F; Dey-Guha, Ipsita I; Hazar-Rethinam, Mehlika M; Dias-Santagata, Dora D; Ting, David T DT; Zhu, Andrew X AX; Hong, Theodore S TS; Golub, Todd R TR; Iafrate, A John AJ; Adalsteinsson, Viktor A VA; Bardelli, Alberto A; Parida, Laxmi L; Juric, Dejan D; Getz, Gad G; Corcoran, Ryan B RB

Publication Date: 2019-09

Variant appearance in text: TSC2: L830R

PubMed Link: 31501609

Variant Present in the following documents:

• NIHMS1535793-supplement-1.xlsx, sheet 5

View BVdb publication page

---

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TSC2: 2489T>G; Leu830Arg

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

---

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: L830R

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

---