Katharina Löhner

Rapid Targeted Genomics in Critically Ill Newborns

Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Klasien A. Bergman et al. · PEDIATRICS · 2017 · 149 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 102 citations · Full text

Life Sciences, Genetics, Neuroscience +17

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Alexander J.M. Dingemans, Kim M. G. Truijen, Sam van de Ven et al. · Translational Psychiatry · 2022 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Aafke Engwerda, Erika Leenders, Barbara Frentz et al. · European Journal of Human Genetics · 2021 · 31 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard et al. · The American Journal of Human Genetics · 2020 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12