Līvija Medne

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Laura K. Conlin, Brian Thiel, Carsten G. Bönnemann et al. · Human Molecular Genetics · 2010 · 496 citations · Full text

Cytogenetics, Genetics, Human Polymorphism +23

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

Tamim H. Shaikh, Xiaowu Gai, Juan C. Perín et al. · Genome Research · 2009 · 389 citations · Full text

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern et al. · Human Mutation · 2009 · 308 citations · Full text

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

Blake C. Ballif, Sara A. Hornor, Elizabeth S. Jenkins et al. · Nature Genetics · 2007 · 250 citations

Genetic Disorder, Medicine, Genetics +4