Līvija Medne
Children's Hospital of Philadelphia(US)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cardiomyopathy and Myosin Studies, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis(2010)501 cited
- → An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge(2014)432 cited
- → High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications(2009)389 cited
- → Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort(2009)311 cited
- → Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2(2007)250 cited
- → Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy(2014)201 cited
- → Recessive TTN truncating mutations define novel forms of core myopathy with heart disease(2013)189 cited
- → Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2(2008)175 cited
- → Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum(2007)171 cited
- → Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease(2021)165 cited