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 · 976 citations

Cardiovascular Disease, Cardiovascular Defects, Vascular Biology +5

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 910 citations · Full text

Translational Medicine, Dna Sequencing, Sequencing +8

Genetic Misdiagnoses and the Potential for Health Disparities

Arjun K. Manrai, Birgit Funke, Heidi L. Rehm et al. · New England Journal of Medicine · 2016 · 804 citations · Full text

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 · 744 citations · Full text

Using high-resolution variant frequencies to empower clinical genome interpretation

Nicola Whiffin, Eric Vallabh Minikel, Roddy Walsh et al. · Genetics in Medicine · 2017 · 454 citations · Full text

Clinical Genome Interpretation, Genetics, Genetic Epidemiology +17