Publications:

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An integrated genetic analysis of epileptogenic brain malformed lesions.

Acta Neuropathologica Communications

Fujita, Atsushi A; Kato, Mitsuhiro M; Sugano, Hidenori H; Iimura, Yasushi Y; Suzuki, Hiroharu H; Tohyama, Jun J; Fukuda, Masafumi M; Ito, Yosuke Y; Baba, Shimpei S; Okanishi, Tohru T; Enoki, Hideo H; Fujimoto, Ayataka A; Yamamoto, Akiyo A; Kawamura, Kentaro K; Kato, Shinsuke S; Honda, Ryoko R; Ono, Tomonori T; Shiraishi, Hideaki H; Egawa, Kiyoshi K; Shirai, Kentaro K; Yamamoto, Shinji S; Hayakawa, Itaru I; Kawawaki, Hisashi H; Saida, Ken K; Tsuchida, Naomi N; Uchiyama, Yuri Y; Hamanaka, Kohei K; Miyatake, Satoko S; Mizuguchi, Takeshi T; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Miyake, Noriko N; Kakita, Akiyoshi A; Matsumoto, Naomichi N

Publication Date: 2023-03-02

Variant appearance in text: TSC2: Arg1459*

PubMed Link: 36864519

Variant Present in the following documents:

• Main text
• 40478_2023_1532_MOESM1_ESM.pdf
• 40478_2023_Article_1532.pdf

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: TSC2: R1459X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: rs45517340

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine

Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021-11

Variant appearance in text: TSC2: 4375C>T; Arg1459Ter

PubMed Link: 34841677

Variant Present in the following documents:

• CTM2-11-e567-s004.xlsx, sheet 5

View BVdb publication page

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Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state.

Genetics And Molecular Biology

Rosset, Clévia C; Jaeger, Mariane da Cunha MDC; Filippi-Chiela, Eduardo E; Reis, Larissa Brussa LB; Sartor, Ivaine Taís Sauthier ITS; Oliveira Netto, Cristina Brinckmann CB; Farias, Caroline Brunetto de CB; Roesler, Rafael R; Ashton-Prolla, Patricia P

Publication Date: 2021

Variant appearance in text: TSC2: 4375C>T

PubMed Link: 34609442

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-44-4-e20200475.pdf

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: TSC2: R1459*

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.

Genome Medicine

Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R

Publication Date: 2020-07-09

Variant appearance in text: TSC2: 4375C>T; Arg1459Ter

PubMed Link: 32646514

Variant Present in the following documents:

• 13073_2020_753_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TSC2: R1459*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Scientific Reports

Reyna-Fabián, Miriam E ME; Hernández-Martínez, Nancy L NL; Alcántara-Ortigoza, Miguel A MA; Ayala-Sumuano, Jorge T JT; Enríquez-Flores, Sergio S; Velázquez-Aragón, José A JA; Varela-Echavarría, Alfredo A; Todd-Quiñones, Carlos G CG; González-Del Angel, Ariadna A

Publication Date: 2020-04-20

Variant appearance in text: TSC2: 4375C>T; rs45517340

PubMed Link: 32313033

Variant Present in the following documents:

• Main text
• 41598_2020_Article_62759.pdf

View BVdb publication page

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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal Of Medical Genetics

Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y

Publication Date: 2020-08

Variant appearance in text: TSC2: 4375C>T; R1459*

PubMed Link: 32005694

Variant Present in the following documents:

• jmedgenet-2019-106377supp005.pdf

View BVdb publication page

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Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging

Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y

Publication Date: 2020-01-12

Variant appearance in text: TSC2: 4375C>T

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

View BVdb publication page

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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: 4375C>T; R1459*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Plos One

Liu, Jie J; Zhao, Weiwei W; Ou, Xiaohua X; Zhao, Zhen Z; Hu, Changming C; Sun, Mingming M; Liu, Feifei F; Deng, Junhao J; Gu, Weili W; An, Jiaying J; Zhang, Qingling Q; Zhang, Xiaoxian X; Xie, Jiaxing J; Li, Shiyue S; Chen, Rongchang R; Yu, Shihui S; Zhong, Nanshan N

Publication Date: 2019

Variant appearance in text: TSC2: Arg1459*

PubMed Link: 31856217

Variant Present in the following documents:

• Main text
• pone.0226400.s008.xlsx, sheet 1
• pone.0226400.s004.xlsx, sheet 4

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: TSC2: R1459*

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: TSC2: 4375C>T; Arg1459*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

View BVdb publication page

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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: 4375C>T; Arg1459Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

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

Treichel, Alison M AM; Hamieh, Lana L; Nathan, Neera R NR; Tyburczy, Magdalena E ME; Wang, Ji-An JA; Oyerinde, Oyetewa O; Raiciulescu, Sorana S; Julien-Williams, Patricia P; Jones, Amanda M AM; Gopalakrishnan, Vissaagan V; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN

Publication Date: 2019-11

Variant appearance in text: TSC2: 4375C>T; Arg1459*

PubMed Link: 31114024

Variant Present in the following documents:

• Main text
• nihms-1662901.pdf

View BVdb publication page

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Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum.

The American Journal Of Surgical Pathology

Palsgrove, Doreen N DN; Li, Yunjie Y; Pratilas, Christine A CA; Lin, Ming-Tseh MT; Pallavajjalla, Aparna A; Gocke, Christopher C; De Marzo, Angelo M AM; Matoso, Andres A; Netto, George J GJ; Epstein, Jonathan I JI; Argani, Pedram P

Publication Date: 2018-09

Variant appearance in text: TSC2: 4375C>T; R1459*

PubMed Link: 29975249

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: TSC2: R1459*

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page

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Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.

Oncotarget

Bongaarts, Anika A; Giannikou, Krinio K; Reinten, Roy J RJ; Anink, Jasper J JJ; Mills, James D JD; Jansen, Floor E FE; Spliet, G M Wim GMW; den Dunnen, Willfred F A WFA; Coras, Roland R; Blümcke, Ingmar I; Paulus, Werner W; Scholl, Theresa T; Feucht, Martha M; Kotulska, Katarzyna K; Jozwiak, Sergiusz S; Buccoliero, Anna Maria AM; Caporalini, Chiara C; Giordano, Flavio F; Genitori, Lorenzo L; Söylemezoğlu, Figen F; Pimentel, José J; Nellist, Mark M; Schouten-van Meeteren, Antoinette Y N AYN; Nag, Anwesha A; Mühlebner, Angelika A; Kwiatkowski, David J DJ; Aronica, Eleonora E

Publication Date: 2017-11-10

Variant appearance in text: TSC2: 4375C>T; R1459*

PubMed Link: 29221145

Variant Present in the following documents:

• Main text
• oncotarget-08-95516.pdf

View BVdb publication page

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Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Plos One

Rosset, Clévia C; Vairo, Filippo F; Bandeira, Isabel Cristina IC; Correia, Rudinei Luis RL; de Goes, Fernanda Veiga FV; da Silva, Raquel Tavares Boy RTB; Bueno, Larissa Souza Mario LSM; de Miranda Gomes, Mireille Caroline Silva MCS; Galvão, Henrique de Campos Reis HCR; Neri, João I C F JICF; Achatz, Maria Isabel MI; Netto, Cristina Brinckmann Oliveira CBO; Ashton-Prolla, Patricia P

Publication Date: 2017

Variant appearance in text: TSC2: 4375C>T

PubMed Link: 28968464

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis.

Cancer Research

Julian, Lisa M LM; Delaney, Sean P SP; Wang, Ying Y; Goldberg, Alexander A AA; Doré, Carole C; Yockell-Lelièvre, Julien J; Tam, Roger Y RY; Giannikou, Krinio K; McMurray, Fiona F; Shoichet, Molly S MS; Harper, Mary-Ellen ME; Henske, Elizabeth P EP; Kwiatkowski, David J DJ; Darling, Thomas N TN; Moss, Joel J; Kristof, Arnold S AS; Stanford, William L WL

Publication Date: 2017-10-15

Variant appearance in text: TSC2: 4375C>T

PubMed Link: 28830860

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genomic landscape of tuberous sclerosis complex.

Nature Communications

Martin, Katie R KR; Zhou, Wanding W; Bowman, Megan J MJ; Shih, Juliann J; Au, Kit Sing KS; Dittenhafer-Reed, Kristin E KE; Sisson, Kellie A KA; Koeman, Julie J; Weisenberger, Daniel J DJ; Cottingham, Sandra L SL; DeRoos, Steven T ST; Devinsky, Orrin O; Winn, Mary E ME; Cherniack, Andrew D AD; Shen, Hui H; Northrup, Hope H; Krueger, Darcy A DA; MacKeigan, Jeffrey P JP

Publication Date: 2017-06-15

Variant appearance in text: TSC2: 4375C>T; Arg1459Ter

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TSC2: 4375C>T; Arg1459Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Nipple Angiofibromas with Loss of TSC2 Are Associated with Tuberous Sclerosis Complex.

The Journal Of Investigative Dermatology

Nathan, Neera N; Tyburczy, Magdalena E ME; Hamieh, Lana L; Wang, Ji-An JA; Brown, G Thomas GT; Richard Lee, Chyi-Chia CC; Kwiatkowski, David J DJ; Moss, Joel J; Darling, Thomas N TN

Publication Date: 2016-02

Variant appearance in text: TSC2: 4375C>T; Arg1459*

PubMed Link: 26824744

Variant Present in the following documents:

• Main text
• nihms738379.pdf
• NIHMS738379-supplement-supplement_1.pdf

View BVdb publication page

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Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg

Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR

Publication Date: 2015-12

Variant appearance in text: TSC2: 4375C>T; Arg1459*

PubMed Link: 25782670

Variant Present in the following documents:

• ejhg201547x2.xls, sheet 1

View BVdb publication page

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Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics

Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN

Publication Date: 2014-04-15

Variant appearance in text: TSC2: 4375C>T; R1459*

PubMed Link: 24271014

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.

Brain Pathology (Zurich, Switzerland)

Qin, Wei W; Chan, Jennifer A JA; Vinters, Harry V HV; Mathern, Gary W GW; Franz, David N DN; Taillon, Bruce E BE; Bouffard, Pascal P; Kwiatkowski, David J DJ

Publication Date: 2010-11

Variant appearance in text: TSC2: R1459X

PubMed Link: 20633017

Variant Present in the following documents:

• Main text

View BVdb publication page

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