Author

Mehmet Burak Mutlu

ORCID 0000-0001-7745-8165Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Abdelmarouf MohieldeiniD· 1 shared Abeer Babiker IdrisiD· 1 shared Adeline L. VanderveriD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alsadig Gassoum· 1 shared Amy M. PizzinoiD· 1 shared Ana Sofia Quintas· 1 shared Antonio Romito· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abdelmarouf MohieldeinORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 25, 2026

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D. Williamson…·Adeline L. Vanderver

This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.

2 citationstop 4%

humanexperimental assay

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Genetic & Genomic MedicinemedRxivPreprintJul 18, 2022

Identification of splicing defects caused by novel exonic mutations in LEF1 in Sudanese B- chronic lymphocytic leukemia patients: computational approach

Elkhazin Ali Abd Elmageed Eltayeb, Fatelrhman Mahdi Gameel, Abeer Babiker Idris…·Mohamed Ahmed Salih Hassan

The paper identifies novel exonic mutations in LEF1 in Sudanese B-CLL patients and predicts their potential to cause splicing defects using in silico analysis.

DOI 10.1101/2022.07.18.22277759

humanbulk RNA-seq

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