Author

Diogo Marques

Broad InstituteORCID 0000-0001-8897-6638Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Ahmet S. AsaniD· 1 shared Alfred L. GeorgeiD· 1 shared Amanda S. LindyiD· 1 shared Annapurna PoduriiD· 1 shared David Báez-NietoiD· 1 shared Erick OlivaresiD· 1 shared Erkin KurganoviD· 1 shared Ingo HelbigiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperNeuroscience

Ahmet S. AsanORCID

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1 paper

Recent·Most cited

NeuroscienceScience Translational MedicinePeer-reviewedDec 10, 2025

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

Erkin Kurganov, Lei Cui, Nikita Budnik…·Jen Q. Pan

This study analyzes 42 de novo CACNA1A missense variants in neurodevelopmental disorders, finding most alter channel function and correlate with clinical outcomes.

5 citations

humanstatistical model

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