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Mutation databases

Prognostic value of SRSF2 mutations in patients with de novo myelodysplastic syndromes: A meta-analysis

Xue Zheng, Zhi Zhan, Duolan Naren, Jing Li, Tianyou Yan, Yuping Gong

published 27 Sep 2017

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Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype

Shoko Onodera, Akiko Saito, Daigo Hasegawa, Nana Morita, Katsuhito Watanabe, Takeshi Nomura, Takahiko Shibahara, Shinsuke Ohba, Akira Yamaguchi, Toshifumi Azuma

published 15 Sep 2017

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Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

Yihua Yao, Xuedong Zheng, Xianglian Ge, Yanghui Xiu, Liu Zhang, Weifang Fang, Junzhao Zhao, Feng Gu, Yihua Zhu

published 06 Sep 2017

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Overall survival in EGFR mutated non-small-cell lung cancer patients treated with afatinib after EGFR TKI and resistant mechanisms upon disease progression

A. J. van der Wekken, J. L. Kuiper, A. Saber, M. M. Terpstra, J. Wei, T. J. N. Hiltermann, E. Thunnissen, D. A. M. Heideman, W. Timens, E. Schuuring, K. Kok, E. F. Smit, A. van den Berg, H. J. M. Groen

published 30 Aug 2017

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Prominent features of the amino acid mutation landscape in cancer

Zachary A. Szpiech, Nicolas B. Strauli, Katharine A. White, Diego Garrido Ruiz, Matthew P. Jacobson, Diane L. Barber, Ryan D. Hernandez

published 24 Aug 2017

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MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis

Linqing Zhong, Hongmei Song, Wei Wang, Ji Li, Mingsheng Ma

published 11 Aug 2017

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DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis

Xiangyi Liu, Lipeng Yang, Lu Tang, Lu Chen, Xiaolu Liu, Dongsheng Fan

published 08 Aug 2017

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DNA mutation motifs in the genes associated with inherited diseases

Michal Růžička, Petr Kulhánek, Lenka Radová, Andrea Čechová, Naďa Špačková, Lenka Fajkusová, Kamila Réblová

published 02 Aug 2017

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Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Joel Fedida, Veronique Fressart, Philippe Charron, Elodie Surget, Tiphaine Hery, Pascale Richard, Erwan Donal, Boris Keren, Guillaume Duthoit, Françoise Hidden-Lucet, Eric Villard, Estelle Gandjbakhch

published 02 Aug 2017

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Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

Cinzia Forleo, Anna Maria D’Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale

published 27 Jul 2017

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Evaluation of K-ras and p53 expression in pancreatic adenocarcinoma using the cancer genome atlas

Liming Lu, Jingchun Zeng

published 25 Jul 2017

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Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia

Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng

published 24 Jul 2017

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Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Michael F. Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose

published 07 Jul 2017

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