Author

Erin E. Torti

ORCID 0000-0001-5790-1051Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Approach:experimental assay· 2 Research Focus:differential expression· 1 Organism:Drosophila· 1 Research Focus:drug response / drug discovery· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

David R. AdamsiD· 2 shared Jill Anne RosenfeldiD· 2 shared M.J. HajianpouriD· 2 shared Pankaj B. AgrawaliD· 2 shared Adam JacksoniD· 1 shared Alali AbdulrazakiD· 1 shared Alan H. BeggsiD· 1 shared Alban C. ZiegleriD· 1 shared

Activity by Year

2021-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

David R. AdamsORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedNov 26, 2025

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden…·Marta Codina‐Solà

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

3 citations

humanrat

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintAug 9, 2022

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

Carolina Gracia-Diaz, Yijing Zhou, Qian Yang…·Naiara Akizu

1 citation

humanexperimental assay

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Genetic & Genomic MedicinemedRxivPreprintApr 26, 2022

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel…·Gemma L. Carvill

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

DOI 10.1101/2022.04.26.22274147

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedApr 8, 2021

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach, Georgi Stoyanov, Florian Erger…·Elizabeth L. Fieg

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

28 citations

humanstatistical model

𝕏 PostBluesky