Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: TSC2: 5378G>A; Arg1793Gln

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.

Frontiers In Genetics

Martone, Stefania S; Buonagura, Autilia Tommasina AT; Marra, Roberta R; Rosato, Barbara Eleni BE; Del Giudice, Federica F; Bonfiglio, Ferdinando F; Capasso, Mario M; Iolascon, Achille A; Andolfo, Immacolata I; Russo, Roberta R

Publication Date: 2022

Variant appearance in text: rs45506695

PubMed Link: 36437915

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Nature Communications

Möhrmann, Lino L; Werner, Maximilian M; Oleś, Małgorzata M; Mock, Andreas A; Uhrig, Sebastian S; Jahn, Arne A; Kreutzfeldt, Simon S; Fröhlich, Martina M; Hutter, Barbara B; Paramasivam, Nagarajan N; Richter, Daniela D; Beck, Katja K; Winter, Ulrike U; Pfütze, Katrin K; Heilig, Christoph E CE; Teleanu, Veronica V; Lipka, Daniel B DB; Zapatka, Marc M; Hanf, Dorothea D; List, Catrin C; Allgäuer, Michael M; Penzel, Roland R; Rüter, Gina G; Jelas, Ivan I; Hamacher, Rainer R; Falkenhorst, Johanna J; Wagner, Sebastian S; Brandts, Christian H CH; Boerries, Melanie M; Illert, Anna L AL; Metzeler, Klaus H KH; Westphalen, C Benedikt CB; Desuki, Alexander A; Kindler, Thomas T; Folprecht, Gunnar G; Weichert, Wilko W; Brors, Benedikt B; Stenzinger, Albrecht A; Schröck, Evelin E; Hübschmann, Daniel D; Horak, Peter P; Heining, Christoph C; Fröhling, Stefan S; Glimm, Hanno H

Publication Date: 2022-08-02

Variant appearance in text: TSC2: 5378G>A; R1793Q

PubMed Link: 35918329

Variant Present in the following documents:

• 41467_2022_31866_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer.

Plos One

Mrozek, Evelyn M EM; Bajaj, Vineeta V; Guo, Yanan Y; Malinowska, Izabela A IA; Zhang, Jianming J; Kwiatkowski, David J DJ

Publication Date: 2021

Variant appearance in text: TSC2: 5378G>A; Arg1793Gln

PubMed Link: 33891611

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 5378G>A; R1793Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 5378G>A; Arg1793Gln

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Mutational analysis of uterine cervical cancer that survived multiple rounds of radiotherapy.

Oncotarget

Nuryadi, Endang E; Sasaki, Yasushi Y; Hagiwara, Yoshihiko Y; Permata, Tiara Bunga Mayang TBM; Sato, Hiro H; Komatsu, Shuichiro S; Yoshimoto, Yuya Y; Murata, Kazutoshi K; Ando, Ken K; Kubo, Nobuteru N; Okonogi, Noriyuki N; Takakusagi, Yosuke Y; Adachi, Akiko A; Iwanaga, Mototaro M; Tsuchida, Keisuke K; Tamaki, Tomoaki T; Noda, Shin-Ei SE; Hirota, Yuka Y; Shibata, Atsushi A; Ohno, Tatsuya T; Tokino, Takashi T; Oike, Takahiro T; Nakano, Takashi T

Publication Date: 2018-08-24

Variant appearance in text: TSC2: Arg1793Gln

PubMed Link: 30220971

Variant Present in the following documents:

• oncotarget-09-32642-s001.pdf

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: 5378G>A; Arg1793Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Balmaña, Judith J; Digiovanni, Laura L; Gaddam, Pragna P; Walsh, Michael F MF; Joseph, Vijai V; Stadler, Zsofia K ZK; Nathanson, Katherine L KL; Garber, Judy E JE; Couch, Fergus J FJ; Offit, Kenneth K; Robson, Mark E ME; Domchek, Susan M SM

Publication Date: 2016-12

Variant appearance in text: TSC2: Arg1793Gln

PubMed Link: 27621404

Variant Present in the following documents:

• JCO.2016.68.4316.pdf

View BVdb publication page

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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: R1793Q

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Bmc Medical Genetics

Hung, Chia-Cheng CC; Su, Yi-Ning YN; Chien, Shu-Chin SC; Liou, Horng-Huei HH; Chen, Chih-Chuan CC; Chen, Pau-Chung PC; Hsieh, Chia-Jung CJ; Chen, Chih-Ping CP; Lee, Wang-Tso WT; Lin, Win-Li WL; Lee, Chien-Nan CN

Publication Date: 2006-09-18

Variant appearance in text: TSC2: 5378G>A; R1793Q

PubMed Link: 16981987

Variant Present in the following documents:

• Main text
• 1471-2350-7-72.pdf

View BVdb publication page

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