Author

Sandrina P. Correia

Karolinska University HospitalORCID 0000-0002-7936-7483Unclaimed 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 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Abdolmajid Omrani· 1 shared Abdullah AlamriiD· 1 shared Amal Mohammed AlhashemiD· 1 shared André EX BrowniD· 1 shared Andrea AccogliiD· 1 shared Andrew T. Powell· 1 shared Anna WredenbergiD· 1 shared Annalaura TorellaiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abdolmajid Omrani

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 29, 2025

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

Kimberly A. Chapman, Farid Ullah, Zachary A Yahiku…·Martha R. C. Bhattacharya

The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.

2 citations

humanzebrafish

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 12, 2022

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Erik Rosenhahn, Thomas James O’Brien, Maha Saad Zaki…·Konrad Platzer

17 citations

humanwhole-exome sequencing

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