Erin Torti

8PUBLICATIONS
165CO-AUTHORS
Neurology and neuromuscular diseasesNeurogeneticsNeonatologyVirtual and mixed realityGene expression (incl. microarray and other genome-wide approaches)
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Publications (8)

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Jul 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

Salima El Chehadeh, Kyung Ah Han, Dongwook Kim

|Jul 02, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Margot A Cousin, Blake A Creighton, Keith A Breau

|May 04, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Ilaria Parenti, Daphné Lehalle, Caroline Nava

|Aug 10, 2019
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

Renee Bend, Lior Cohen, Melissa T Carter

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Frequent Collaborators

4 joint publications

Evan E Eichler

3 joint publications

Antonio Vitobello

3 joint publications

Sébastien Küry

3 joint publications

Renske Oegema