Nadina Ortiz Bruechle

DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling

Markus Schueler, Daniela A. Braun, Gayathri Chandrasekar et al. · The American Journal of Human Genetics · 2014 · 118 citations · Full text

Hepatology, Liver Physiology, Renal Inflammation +6

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

Gilles Morin, Nadina Ortiz Bruechle, Amrathlal Rabbind Singh et al. · Human Mutation · 2014 · 111 citations

Genetics, Molecular Biology, Molecular Genetics +17

Artificial Intelligence–based Detection of FGFR3 Mutational Status Directly from Routine Histology in Bladder Cancer: A Possible Preselection for Molecular Testing?

Chiara Maria Lavinia Loeffler, Nadina Ortiz Bruechle, Max Jung et al. · European Urology Focus · 2021 · 87 citations · Full text

Predicting Mutational Status of Driver and Suppressor Genes Directly from Histopathology With Deep Learning: A Systematic Study Across 23 Solid Tumor Types

Chiara Maria Lavinia Loeffler, Nadine T. Gaisa, Hannah Sophie Muti et al. · Frontiers in Genetics · 2022 · 22 citations · Full text

Convolutional Neural Network, Engineering, Machine Learning +21