Author

Elaine Maria Pereira

Columbia University Irving Medical CenterORCID 0000-0003-1507-884XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1

Frequent Co-Authors

Konrad PlatzeriD· 2 shared Rami Abou JamraiD· 2 shared Ahna M. Rabani· 1 shared Alessandra RenieriiD· 1 shared Amelle ShillingtoniD· 1 shared Amy Dobson· 1 shared André ReisiD· 1 shared Andrea AccogliiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Konrad PlatzerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 30, 2023

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

DOI 10.1101/2023.03.30.23287962

humanstatistical model

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Genetic & Genomic MedicineAnnals of NeurologyPeer-reviewedAug 19, 2022

De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

Konrad Platzer, Heinrich Sticht, Caleb P. Bupp…·Sonja M. Wojcik

This study identifies de novo missense variants in SLC32A1 as a cause of a neurodevelopmental disorder with epilepsy, showing they impair GABAergic neurotransmission through two mechanisms.

26 citations

humanstatistical model

𝕏 PostBluesky