Author

Mehrnaz Mehrabipour

Boston Children's HospitalORCID 0000-0002-8107-7434Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ahmad Alomari· 1 shared Anna ShimbuluiD· 1 shared Annegret HolmiD· 1 shared Dionyssios Benetatos· 1 shared Friedrich KappiD· 1 shared Harry P. KozakewichiD· 1 shared John Butler MullikeniD· 1 shared Joyce E. BischoffiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ahmad Alomari

Mutual co-authors in cluster

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintSep 25, 2026

A de novo GABPA Variant in a Patient with Multifocal Cutaneous Vascular Tumors of an Unclassified Entity

Annegret Holm, Pascal Brouillard, Nagi Mahammadzade…·Joyce E. Bischoff

The paper identifies a novel de novo GABPA variant in a patient with unclassified vascular tumors, linking it to disrupted vascular development through structural and functional analyses.

DOI 10.64898/2026.09.21.753178

humanwhole-exome sequencing

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