Birgit Funke

TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome

Sandra Merscher, Birgit Funke, Jonathan A. Epstein et al. · Cell · 2001 · 988 citations

Medicine, Cardiology, Physiology +9

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 930 citations · Full text

Life Sciences, Biomedical Informatics, Molecular Biology +14

Genetic Misdiagnoses and the Potential for Health Disparities

Arjun K. Manrai, Birgit Funke, Heidi L. Rehm et al. · New England Journal of Medicine · 2016 · 842 citations · Full text

Life Sciences, Cardiology, Genetics +16

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh, Kate Thomson, James S. Ware et al. · Genetics in Medicine · 2016 · 758 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Best practices for benchmarking germline small-variant calls in human genomes

Peter Krusche, Len Trigg, Paul C. Boutros et al. · Nature Biotechnology · 2019 · 503 citations · Full text

Life Sciences, Bioinformatics, Genetics +16