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Human Mutation|November 28, 2013
Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencingZhao Chen, Kimberly Moran, Jennifer Richards-Yutz, et al.Human Mutation|October 15, 2013
An NTD-associated polymorphism in the 3' UTR of MTHFD1L can affect disease risk by altering miRNA bindingStefano Minguzzi, S Duygu Selcuklu, Charles Spillane, et al.Human Mutation|October 15, 2013
Genetic and functional analyses of ZIC3 variants in congenital heart diseaseJason Cowan, Muhammad Tariq, Stephanie M WareHuman Mutation|October 17, 2013
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutationsKristina Opletalova, Agnès Bourillon, Wei Yang, et al.Human Mutation|October 17, 2013
The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse modelRachel Adihe Lokanga, Xiao-Nan Zhao, Karen UsdinHuman Mutation|October 12, 2013
Mitochondrial DNA rearrangements in health and disease--a comprehensive studyJoana Damas, David C Samuels, João Carneiro, et al.Human Mutation|October 10, 2013
RRBS-analyser: a comprehensive web server for reduced representation bisulfite sequencing data analysisTao Wang, Qi Liu, Xianfeng Li, et al.Human Mutation|May 11, 2012
Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosisDavid L Masica, Patrick R Sosnay, Garry R Cutting, et al.Human Mutation|May 31, 2012
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variantsMarian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, et al.Human Mutation|January 1, 1994
APC and p53 mutations in de novo colorectal adenocarcinomasT Aoki, S Takeda, A Yanagisawa, et al.Pageof 583