Author

Brahim M. Tabarki

Riyadh Armed Forces HospitalORCID 0000-0001-6240-0489Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Amal Mohammed AlhashemiD· 2 shared Abdolmajid Omrani· 1 shared Abdullah AlamriiD· 1 shared Aly Elsayed· 1 shared André EX BrowniD· 1 shared Anna WredenbergiD· 1 shared Annalaura TorellaiD· 1 shared Antonio VitobelloiD· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Amal Mohammed AlhashemORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintMar 12, 2024

A CLASP1 variant suggests a phenotypic relation with lissencephaly in humans

Rawan Alsafeh, Amal Mohammed Alhashem, Aly Elsayed…·Brahim M. Tabarki

This study identifies a CLASP1 variant in a consanguineous family linked to lissencephaly, showing it disrupts microtubule interactions and contributes to brain development defects.

DOI 10.1101/2024.03.12.584685

humanwhole-exome sequencing

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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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