Melissa Pauly

3PUBLICATIONS
118CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseases
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Publications (3)

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|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|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

|Jan 10, 2024
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.

Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade

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Frequent Collaborators

3 joint publications

André Reis

2 joint publications

Alain Verloes

2 joint publications

Frédéric Tran Mau-Them

2 joint publications

Jonathan Levy

2 joint publications

Tahsin Stefan Barakat

2 joint publications

Tobias B Haack

2 joint publications

Claire Beneteau

1 joint publications

Christiane Zweier

1 joint publications

Julien Maraval

1 joint publications

Caroline Nava

Frequent Collaborators

3 joint publications

André Reis

2 joint publications

Alain Verloes

2 joint publications

Frédéric Tran Mau-Them

2 joint publications

Jonathan Levy

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