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Sonja Neuser

6PUBLICATIONS
168CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)NeonatologyEpigenetics (incl. genome methylation and epigenomics)
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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 <i>RORB</i>-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

Frequent Collaborators

3 joint publications

Konrad Platzer

3 joint publications

Bernt Popp

3 joint publications

Rami Abou Jamra

2 joint publications

Nicolas Chatron

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