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: DMD: 1474C>T; Gln492Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Mutations driving CLL and their evolution in progression and relapse.

Nature

Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ

Publication Date: 2015-10-22

Variant appearance in text: DMD: Q492*

PubMed Link: 26466571

Variant Present in the following documents:

• NIHMS715090-supplement-Supplementary_Table_10.xlsx, sheet 1

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 1474C>T; Gln492X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

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