Publications:

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: TSC2: Q1392*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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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: 4174C>T; rs45517330

PubMed Link: 32313033

Variant Present in the following documents:

• Main text
• 41598_2020_Article_62759.pdf

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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: 4174C>T; Gln1392X

PubMed Link: 28808237

Variant Present in the following documents:

• Main text
• 41598_2017_Article_6145.pdf

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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: 4174C>T; Gln1392Ter

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

View BVdb publication page