Ana Töpf

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Rachel Soemedi, Ian Wilson, Jamie Bentham et al. · The American Journal of Human Genetics · 2012 · 335 citations · Full text

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

Donna J. Page, Matthieu J. Miossec, Simon G. Williams et al. · Circulation Research · 2019 · 191 citations · Full text

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Rachel Soemedi, Ana Töpf, Ian Wilson et al. · Human Molecular Genetics · 2011 · 162 citations · Full text

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

Heather J. Cordell, Jamie Bentham, Ana Töpf et al. · Nature Genetics · 2013 · 156 citations

Atrial Septal Defect, Genome-wide Association Study, Genetic Disorder +9