Ana Töpf
Instituto Nacional de Enfermedades Neoplásicas(PE)NIHR Newcastle Biomedical Research Centre(GB)Newcastle University(GB)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genomics and Rare Diseases, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(2017)790 cited
- → Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease(2012)337 cited
- → Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot(2019)193 cited
- → Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16(2013)165 cited
- → Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls(2011)164 cited
- → Genome Sequencing for Diagnosing Rare Diseases(2024)160 cited