Sonja Neuser
6PUBLICATIONS
168CO-AUTHORS
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Publications (6)
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|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.Caroline Nava, Benjamin Cogne, Amandine Santini
|Sep 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.Jana Willim, Daniel Woike, Daniel Greene
|Jan 02, 2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder.Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize
|Jan 12, 2022
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.Julian Schröter, Bernt Popp, Heiko Brennenstuhl
|Oct 26, 2021
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.Sonja Neuser, Ilona Krey, Annemarie Schwan
|Apr 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.Sonja Neuser, Barbara Brechmann, Gali Heimer
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Frequent Collaborators
3 joint publications
Konrad Platzer
3 joint publications
Bernt Popp
3 joint publications
Rami Abou Jamra
2 joint publications
Nicolas Chatron
2 joint publications
Alain Verloes
2 joint publications
Francois Lecoquierre
2 joint publications
Julien Van-Gils
2 joint publications
Tobias Bartolomaeus
2 joint publications
Gaetan Lesca
2 joint publications
Gael Nicolas
