Publications:

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Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Kidney International Reports

Doreille, Alice A; Lombardi, Yannis Y; Dancer, Marine M; Lamri, Radoslava R; Testard, Quentin Q; Vanhoye, Xavier X; Lebre, Anne-Sophie AS; Garcia, Hugo H; Rafat, Cédric C; Ouali, Nacera N; Luque, Yosu Y; Izzedine, Hassan H; Esteve, Emmanuel E; Cez, Alexandre A; Petit-Hoang, Camille C; François, Hélène H; Marchal, Armance A; Letavernier, Emmanuel E; Frémeaux-Bacchi, Véronique V; Boffa, Jean-Jacques JJ; Rondeau, Eric E; Raymond, Laure L; Mesnard, Laurent L

Publication Date: 2023-03

Variant appearance in text: TSC1: 737G>A; Arg246Lys

PubMed Link: 36938085

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.

Frontiers In Genetics

Zhang, Nianyi N; Wang, Xiaofang X; Tang, Zengqi Z; Qiu, Xiaonan X; Guo, Zhixuan Z; Huang, Danqi D; Xiong, Hui H; Guo, Qing Q

Publication Date: 2020

Variant appearance in text: TSC1: 737G>A

PubMed Link: 33679864

Variant Present in the following documents:

• Main text
• fgene-11-575750.pdf

View BVdb publication page

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Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: TSC1: 737G>A; Arg246Lys; rs118203436

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: TSC1: 737G>A; Arg246Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.

Scientific Reports

Avgeris, Socratis S; Fostira, Florentia F; Vagena, Andromachi A; Ninios, Yiannis Y; Delimitsou, Angeliki A; Vodicka, Radek R; Vrtel, Radek R; Youroukos, Sotirios S; Stravopodis, Dimitrios J DJ; Vlassi, Metaxia M; Astrinidis, Aristotelis A; Yannoukakos, Drakoulis D; Voutsinas, Gerassimos E GE

Publication Date: 2017-12-01

Variant appearance in text: TSC1: 737G>A

PubMed Link: 29196670

Variant Present in the following documents:

• Main text
• 41598_2017_Article_16988.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: TSC1: 737G>A; Arg246Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: TSC1: R246K

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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Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

European Journal Of Human Genetics : Ejhg

Nellist, Mark M; van den Heuvel, Diana D; Schluep, Diane D; Exalto, Carla C; Goedbloed, Miriam M; Maat-Kievit, Anneke A; van Essen, Ton T; van Spaendonck-Zwarts, Karin K; Jansen, Floor F; Helderman, Paula P; Bartalini, Gabriella G; Vierimaa, Outi O; Penttinen, Maila M; van den Ende, Jenneke J; van den Ouweland, Ans A; Halley, Dicky D

Publication Date: 2009-03

Variant appearance in text: TSC1: 737G>A; R246K

PubMed Link: 18830229

Variant Present in the following documents:

• Main text

View BVdb publication page

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