Publications:

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: 2210T>C; Leu737Pro

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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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: 2210T>C; Leu737Pro

PubMed Link: 25782670

Variant Present in the following documents:

• ejhg201547x2.xls, sheet 1

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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: L737P

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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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: L737P

PubMed Link: 20165957

Variant Present in the following documents:

• Main text

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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: 2210T>C; L737P

PubMed Link: 16981987

Variant Present in the following documents:

• Main text
• 1471-2350-7-72.pdf

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