Author

Mahya Ebrahimi Nasab

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Fowzan Sami AlkurayaiD· 2 shared Ghada M. H. Abdel‐SalamiD· 2 shared Henry HouldeniD· 2 shared Maha Saad ZakiiD· 2 shared Mohamed S. Abdel‐HamidiD· 2 shared Reza MaroofianiD· 2 shared Shahryar AlaviiD· 2 shared Abdolmajid Omrani· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Fowzan Sami AlkurayaORCID

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2 papers

Recent·Most cited

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

Daniel G. Calame, Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed S. Abdel‐Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P. Flannery, Zain Dardas, Jawid M. Fatih, Chaya Nautiyal Murali, Varun Kannan, , Long Nam Nguyen

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

medRxiv · Feb 9, 2024 · PreprintGenetic & Genomic Medicine

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, Ina Sorge, Dagmar Wieczorek, Kevin M. Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan Sami Alkuraya, Mais O. Hashem, Amal Mohammed Alhashem, Brahim M. Tabarki, Abdullah Alamri, Ayat H. Al Safar, Dalal Bubshait, , Konrad Platzer

The American Journal of Human Genetics · Jul 12, 2022Peer-reviewedGenetic & Genomic Medicine