Publications:

---

Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Nature Communications

Lee, Bernard C H BCH; Robinson, Philip S PS; Coorens, Tim H H THH; Yan, Helen H N HHN; Olafsson, Sigurgeir S; Lee-Six, Henry H; Sanders, Mathijs A MA; Siu, Hoi Cheong HC; Hewinson, James J; Yue, Sarah S K SSK; Tsui, Wai Yin WY; Chan, Annie S Y ASY; Chan, Anthony K W AKW; Ho, Siu Lun SL; Campbell, Peter J PJ; Martincorena, Inigo I; Buczacki, Simon J A SJA; Yuen, Siu Tsan ST; Leung, Suet Yi SY; Stratton, Michael R MR

Publication Date: 2022-05-17

Variant appearance in text: TSC2: R1713H

PubMed Link: 35581206

Variant Present in the following documents:

• 41467_2022_29920_MOESM3_ESM.xlsx, sheet 7

View BVdb publication page

---

Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.

Molecular Genetics & Genomic Medicine

Yang, Xiao-Yan XY; Meng, Yan Y; Wang, Yang-Yang YY; Lu, Yan-Ping YP; Wang, Qiu-Hong QH; You, Yan-Qin YQ; Xie, Xiao-Xiao XX; Bai, Ling L; Fang, Nan N; Zou, Li-Ping LP

Publication Date: 2022-07

Variant appearance in text: TSC2: 5138G>A

PubMed Link: 35429229

Variant Present in the following documents:

• MGG3-10-e1952.pdf

View BVdb publication page

---

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: 5138G>A

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

---

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: 5138G>A

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

---

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

Publication Date: 2022

Variant appearance in text: rs45517395

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

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

Publication Date: 2022

Variant appearance in text: rs45517395

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

---

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2022-02

Variant appearance in text: TSC2: 5138G>A; R1713H

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s002.xlsx, sheet 2

View BVdb publication page

---

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: 5138G>A; R1713H

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

---

Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology

Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G

Publication Date: 2021-01-22

Variant appearance in text: TSC2: R1713H

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: TSC2: 5138G>A; R1713H

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TSC2: 5138G>A; R1713H

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: TSC2: 5138G>A; Arg1713His

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

---

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: R1713H

PubMed Link: 29281825

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: TSC2: 5138G>A; R1713H

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

---

Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: TSC2: R1713H

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Annals Of Neurology

D'Gama, Alissa M AM; Geng, Ying Y; Couto, Javier A JA; Martin, Beth B; Boyle, Evan A EA; LaCoursiere, Christopher M CM; Hossain, Amer A; Hatem, Nicole E NE; Barry, Brenda J BJ; Kwiatkowski, David J DJ; Vinters, Harry V HV; Barkovich, A James AJ; Shendure, Jay J; Mathern, Gary W GW; Walsh, Christopher A CA; Poduri, Annapurna A

Publication Date: 2015-04

Variant appearance in text: TSC2: 5138G>A; R1713H; rs45517395

PubMed Link: 25599672

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

Human Molecular Genetics

Tyburczy, Magdalena E ME; Jozwiak, Sergiusz S; Malinowska, Izabela A IA; Chekaluk, Yvonne Y; Pugh, Trevor J TJ; Wu, Chin-Lee CL; Nussbaum, Robert L RL; Seepo, Sara S; Dzik, Tomasz T; Kotulska, Katarzyna K; Kwiatkowski, David J DJ

Publication Date: 2015-04-01

Variant appearance in text: TSC2: 5138G>A; R1713H

PubMed Link: 25432535

Variant Present in the following documents:

• Main text

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: R1713H

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

---