Publications:

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: TSC2: 4911_4913del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Jama Neurology

McKnight, Dianalee D; Morales, Ana A; Hatchell, Kathryn E KE; Bristow, Sara L SL; Bonkowsky, Joshua L JL; Perry, Michael Scott MS; Berg, Anne T AT; Borlot, Felippe F; Esplin, Edward D ED; Moretz, Chad C; Angione, Katie K; Ríos-Pohl, Loreto L; Nussbaum, Robert L RL; Aradhya, Swaroop S; , ; Haldeman-Englert, Chad R CR; Levy, Rebecca J RJ; Parachuri, Venu G VG; Lay-Son, Guillermo G; de Montellano, David J Dávila-Ortiz DJD; Ramirez-Garcia, Miguel Angel MA; Benítez Alonso, Edmar O EO; Ziobro, Julie J; Chirita-Emandi, Adela A; Felix, Temis M TM; Kulasa-Luke, Dianne D; Megarbane, Andre A; Karkare, Shefali S; Chagnon, Sarah L SL; Humberson, Jennifer B JB; Assaf, Melissa J MJ; Silva, Sebastian S; Zarroli, Katherine K; Boyarchuk, Oksana O; Nelson, Gary R GR; Palmquist, Rachel R; Hammond, Katherine C KC; Hwang, Sean T ST; Boutlier, Susan B SB; Nolan, Melinda M; Batley, Kaitlin Y KY; Chavda, Devraj D; Reyes-Silva, Carlos Alberto CA; Miroshnikov, Oleksandr O; Zuccarelli, Britton B; Amlie-Wolf, Louise L; Wheless, James W JW; Seinfeld, Syndi S; Kanhangad, Manoj M; Freeman, Jeremy L JL; Monroy-Santoyo, Susana S; Rodriguez-Vazquez, Natalia N; Ryan, Monique M MM; Machie, Michelle M; Guerra, Patricio P; Hassan, Muhammad Jawad MJ; Candee, Meghan S MS; Bupp, Caleb P CP; Park, Kristen L KL; Muller, Eric E; Lupo, Pamela P; Pedersen, Robert C RC; Arain, Amir M AM; Murphy, Andrea A; Schatz, Krista K; Mu, Weiyi W; Kalika, Paige M PM; Plaza, Lautaro L; Kellogg, Marissa A MA; Lora, Evelyn G EG; Carson, Robert P RP; Svystilnyk, Victoria V; Venegas, Viviana V; Luke, Rebecca R RR; Jiang, Huiyuan H; Stetsenko, Tetiana T; Dueñas-Roque, Milagros M MM; Trasmonte, Joseph J; Burke, Rebecca J RJ; Hurst, Anna C E ACE; Smith, Douglas M DM; Massingham, Lauren J LJ; Pisani, Laura L; Costin, Carrie E CE; Ostrander, Betsy B; Filloux, Francis M FM; Ananth, Amitha L AL; Mohamed, Ismail S IS; Nechai, Alla A; Dao, Jasmin M JM; Fahey, Michael C MC; Aliu, Ermal E; Falchek, Stephen S; Press, Craig A CA; Treat, Lauren L; Eschbach, Krista K; Starks, Angela A; Kammeyer, Ryan R; Bear, Joshua J JJ; Jacobson, Mona M; Chernuha, Veronika V; Meibos, Bailey B; Wong, Kristen K; Sweney, Matthew T MT; Espinoza, A Chris AC; Van Orman, Colin B CB; Weinstock, Arie A; Kumar, Ashutosh A; Soler-Alfonso, Claudia C; Nolan, Danielle A DA; Raza, Muhammad M; Rojas Carrion, Miguel David MD; Chari, Geetha G; Marsh, Eric D ED; Shiloh-Malawsky, Yael Y; Parikh, Sumit S; Gonzalez-Giraldo, Ernesto E; Fulton, Stephen S; Sogawa, Yoshimi Y; Burns, Kaitlyn K; Malets, Myroslava M; Montiel Blanco, Johnny David JD; Habela, Christa W CW; Wilson, Carey A CA; Guzmán, Guillermo G GG; Pavliuk, Mariia M

Publication Date: 2022-10-31

Variant appearance in text: TSC2: 4912_4914del; Lys1638del

PubMed Link: 36315135

Variant Present in the following documents:

• jamaneurol-e223651-s001.pdf

View BVdb publication page

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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports

Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB

Publication Date: 2020-06-18

Variant appearance in text: TSC2: Lys1638del

PubMed Link: 32555378

Variant Present in the following documents:

• Main text
• 41598_2020_Article_66588.pdf
• 41598_2020_66588_MOESM1_ESM.pdf

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: 4909_4911delAAG

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.

Scientific Reports

Mills, James D JD; Iyer, Anand M AM; van Scheppingen, Jackelien J; Bongaarts, Anika A; Anink, Jasper J JJ; Janssen, Bart B; Zimmer, Till S TS; Spliet, Wim G WG; van Rijen, Peter C PC; Jansen, Floor E FE; Feucht, Martha M; Hainfellner, Johannes A JA; Krsek, Pavel P; Zamecnik, Josef J; Kotulska, Katarzyna K; Jozwiak, Sergiusz S; Jansen, Anna A; Lagae, Lieven L; Curatolo, Paolo P; Kwiatkowski, David J DJ; Pasterkamp, R Jeroen RJ; Senthilkumar, Ketharini K; von Oerthel, Lars L; Hoekman, Marco F MF; Gorter, Jan A JA; Crino, Peter B PB; Mühlebner, Angelika A; Scicluna, Brendon P BP; Aronica, Eleonora E

Publication Date: 2017-08-14

Variant appearance in text: TSC2: 4909_4911delAAG

PubMed Link: 28808237

Variant Present in the following documents:

• Main text
• 41598_2017_Article_6145.pdf

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: 4909_4911del; Lys1637del

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

View BVdb publication page

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Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

Human Genetics

Qin, Wei W; Kozlowski, Piotr P; Taillon, Bruce E BE; Bouffard, Pascal P; Holmes, Alison J AJ; Janne, Pasi P; Camposano, Susana S; Thiele, Elizabeth E; Franz, David D; Kwiatkowski, David J DJ

Publication Date: 2010-03

Variant appearance in text: TSC2: K1638del

PubMed Link: 20165957

Variant Present in the following documents:

• Main text

View BVdb publication page

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