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Ana Töpf

NIHR Newcastle Biomedical Research Centre

ORCID: 0000-0002-9227-2526

252 papers and 6.1k citations.

PubIndex Score84Top 16% · mid-careerHow it's scored

252Publications

6.1kTotal Citations

First publication: 2005First senior author: 2019

Top publicationsby citations

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Daniel G. MacArthur, Jamie L. Marshall et al.|Science Translational Medicine|2017

Cited by 809

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

Rachel Soemedi, Bernard Keavney, Ian Wilson et al.|The American Journal of Human Genetics|2012

Cited by 338

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

Donna J. Page, Bernard Keavney, Elisavet Fotiou et al.|Circulation Research|2019

Cited by 198

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Daniel G. MacArthur, Gabrielle Lemire et al.|New England Journal of Medicine|2024

Cited by 186

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

Rachel Soemedi, Bernard Keavney, Ana Töpf et al.|Human Molecular Genetics|2011

Cited by 165

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