Publications:

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TSC2: 736A>G; Thr246Ala; rs137854123

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.

The Journal Of Biological Chemistry

Zech, Reinhard R; Kiontke, Stephan S; Mueller, Uwe U; Oeckinghaus, Andrea A; Kümmel, Daniel D

Publication Date: 2016-09-16

Variant appearance in text: TSC2: T246A

PubMed Link: 27493206

Variant Present in the following documents:

• Main text

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MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Chang, Wendy W; Brohl, Andrew S AS; Patidar, Rajesh R; Sindiri, Sivasish S; Shern, Jack F JF; Wei, Jun S JS; Song, Young K YK; Yohe, Marielle E ME; Gryder, Berkley B; Zhang, Shile S; Calzone, Kathleen A KA; Shivaprasad, Nityashree N; Wen, Xinyu X; Badgett, Thomas C TC; Miettinen, Markku M; Hartman, Kip R KR; League-Pascual, James C JC; Trahair, Toby N TN; Widemann, Brigitte C BC; Merchant, Melinda S MS; Kaplan, Rosandra N RN; Lin, Jimmy C JC; Khan, Javed J

Publication Date: 2016-08-01

Variant appearance in text: TSC2: T246A

PubMed Link: 26994145

Variant Present in the following documents:

• Main text

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Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Research

Amendola, Laura M LM; Dorschner, Michael O MO; Robertson, Peggy D PD; Salama, Joseph S JS; Hart, Ragan R; Shirts, Brian H BH; Murray, Mitzi L ML; Tokita, Mari J MJ; Gallego, Carlos J CJ; Kim, Daniel Seung DS; Bennett, James T JT; Crosslin, David R DR; Ranchalis, Jane J; Jones, Kelly L KL; Rosenthal, Elisabeth A EA; Jarvik, Ella R ER; Itsara, Andy A; Turner, Emily H EH; Herman, Daniel S DS; Schleit, Jennifer J; Burt, Amber A; Jamal, Seema M SM; Abrudan, Jenica L JL; Johnson, Andrew D AD; Conlin, Laura K LK; Dulik, Matthew C MC; Santani, Avni A; Metterville, Danielle R DR; Kelly, Melissa M; Foreman, Ann Katherine M AK; Lee, Kristy K; Taylor, Kent D KD; Guo, Xiuqing X; Crooks, Kristy K; Kiedrowski, Lesli A LA; Raffel, Leslie J LJ; Gordon, Ora O; Machini, Kalotina K; Desnick, Robert J RJ; Biesecker, Leslie G LG; Lubitz, Steven A SA; Mulchandani, Surabhi S; Cooper, Greg M GM; Joffe, Steven S; Richards, C Sue CS; Yang, Yaoping Y; Rotter, Jerome I JI; Rich, Stephen S SS; O'Donnell, Christopher J CJ; Berg, Jonathan S JS; Spinner, Nancy B NB; Evans, James P JP; Fullerton, Stephanie M SM; Leppig, Kathleen A KA; Bennett, Robin L RL; Bird, Thomas T; Sybert, Virginia P VP; Grady, William M WM; Tabor, Holly K HK; Kim, Jerry H JH; Bamshad, Michael J MJ; Wilfond, Benjamin B; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom D TD; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Rehm, Heidi H; Nickerson, Debbie A DA; Jarvik, Gail P GP

Publication Date: 2015-03

Variant appearance in text: TSC2: 736A>G; Thr246Ala

PubMed Link: 25637381

Variant Present in the following documents:

• 305.pdf

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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: T246A

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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