Denise Horn
17PUBLICATIONS
123CO-AUTHORS
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Publications (17)
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|Apr 26, 2025
Functional analyses of splice site variants in TCF12.Angela Borst, Tilmann Schweitzer, Denise Horn
|Mar 22, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.Sarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel
|Mar 13, 2024
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.Alisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel
|Feb 09, 2023
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.Martin A Mensah, Henri Niskanen, Alexandre P Magalhaes
|Jan 28, 2023
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.Felix Boschann, Sabine Kosmehl, Marc Bloching
|Jan 17, 2023
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo
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Frequent Collaborators
4 joint publications
Stefan Mundlos
4 joint publications
Martin Atta Mensah
3 joint publications
Jean Tori Pantel
3 joint publications
Felix Boschann
3 joint publications
Malte Spielmann
3 joint publications
Claus-Eric Ott
2 joint publications
Kerstin Kutsche
2 joint publications
Jonas Elsner
2 joint publications
Magdalena Danyel
2 joint publications
Alexej Knaus
