Emanuela Argilli

4PUBLICATIONS
50CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Biomechanical engineeringNeurology and neuromuscular diseases
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Publications (4)

|Aug 12, 2026
BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

|Jan 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Eunhye Lee, Seungmin Sim, Hee-Jung Choi

|Nov 06, 2024
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Carolyn Le, Emanuela Argilli, Elizabeth George

|Jul 10, 2024
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.

Simon Früh, Sami Boudkkazi, Peter Koppensteiner

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Frequent Collaborators

2 joint publications

Stephanie Efthymiou

2 joint publications

Carol Saunders

2 joint publications

Katta Mohan Girisha

2 joint publications

Elliott H Sherr