Concepedia

Ana Töpf

AT

Statistics

Publications

104

Citations

5.7K

H-Index

40

Active since

2005

Affiliations

Newcastle University(Current)

Children's Hospital of Eastern Ontario

Newcastle upon Tyne Hospitals NHS Foundation Trust

Ottawa Hospital

University of Ottawa

Ana Töpf is an author at Newcastle University specializing in genetics, molecular genetics, and medical genetics.

ORCID

Publications per year

2005–2024

104

Publications

104

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 806 citations · Full text

, , +17

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 · 338 citations · Full text

, , +17

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 · 198 citations · Full text

, , +17

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

, , +17

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 · 165 citations

, , +13

1–5 of 104