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Mutation databases

Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease

Mi-Ae Jang, Jong-Won Chung, [ ... ], Chang-Seok Ki

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Swati Tomar, Raman Sethi, [ ... ], Poh San Lai

Sequence statistics of tertiary structural motifs reflect protein stability

Fan Zheng, Gevorg Grigoryan

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Zhijie Niu, Yong Feng, [ ... ], Lu Jiang

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome

Jian-Hong Liu, Xiu-Xiu Wei, [ ... ], Xiao-Jun Li

Prevalence and extent of heteroresistance by next generation sequencing of multidrug-resistant tuberculosis

Darwin J. Operario, Alexander F. Koeppel, [ ... ], Eric R. Houpt

An improved ant colony optimization algorithm with fault tolerance for job scheduling in grid computing systems

Hajara Idris, Absalom E. Ezugwu, Sahalu B. Junaidu, Aderemi O. Adewumi

Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients

Jumana Yousuf Al-Aama, Noor Ahmad Shaik, [ ... ], Omar I. Saadah

A decade of viral mutations and associated drug resistance in a population of HIV-1⁺ Puerto Ricans: 2002–2011

Lycely del C. Sepúlveda-Torres, Lavanya Rishishwar, [ ... ], Luis A. Cubano

Succinct workflows for circulating tumor cells after enrichment: From systematic counting to mutational profiling

Victor Chun-Lam Wong, Josephine Mun-Yee Ko, Chi-Tat Lam, Maria Li Lung

Identification of potential new treatment response markers and therapeutic targets using a Gaussian process-based method in lapatinib insensitive breast cancer models

Tapesh Santra, Sandra Roche, [ ... ], Walter Kolch

Performance of TaqMan array card to detect TB drug resistance on direct specimens

Sayera Banu, Suporn Pholwat, [ ... ], Eric R. Houpt

Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach

Sneha P., Thirumal Kumar D., [ ... ], Hatem Zayed

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