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BMC Microbiology|July 10, 2012
Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomesXiang Qin, Jessica R Galloway-Peña, Jouko Sillanpaa, et al.
Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Briefings in Bioinformatics|March 27, 2026
Comparison of variant callers using 60 532 multi-ancestry whole genome sequencesHufeng Zhou, Zilin Li, Derek Shyr, et al.
Genome Medicine|April 25, 2019
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndromeClaudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, et al.
The Journal of Clinical Investigation|June 3, 2020
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AIDMarcel Kuhny, Lisa R Forbes, Elif Çakan, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
American Journal of Human Genetics|January 10, 2006
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.
Human Molecular Genetics|September 13, 2016
Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing studyYi-Hsiang Hsu, Guo Li, Ching-Ti Liu, et al.
American Journal of Human Genetics|March 31, 2015
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndromeJanson White, Juliana F Mazzeu, Alexander Hoischen, et al.
The New England Journal of Medicine|May 10, 2013
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfectaChristine M Laine, Kyu Sang Joeng, Philippe M Campeau, et al.
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