Author

Mohamed S. Abdel‐Hamid

National Research CentreORCID 0000-0002-2480-0147Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 4 Research Focus:differential expression· 3 Organism:human· 3 Assay:whole-exome sequencing· 3 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Research Focus:variant calling· 2 Organism:mouse· 1

Frequent Co-Authors

Fowzan Sami AlkurayaiD· 3 shared Ghada M. H. Abdel‐SalamiD· 3 shared Henry HouldeniD· 3 shared Maha Saad ZakiiD· 3 shared Reza MaroofianiD· 3 shared Dana MarafiiD· 2 shared James R. LupskiiD· 2 shared Jennifer Ellen PoseyiD· 2 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Fowzan Sami AlkurayaORCID

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Author profile →

4 papers

Recent·Most cited

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian, Elena Kondakova, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Daniel C. Koboldt, Amy Feldman Lewanda, Pengfei Liu, Dana Marafi, Jennifer Ellen Posey, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, , Universitat Autònoma de Barcelona. Departament de Medicina

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

Nature Communications · Feb 17, 2025Peer-reviewedGenetic & Genomic Medicine

The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy

Kohji Kato, Yosuke Nishio, Kirsty J. McMillan, Aljazi Al-Maraghi, Hester Y. Kroes, Mohamed S. Abdel‐Hamid, Emma L. Jones, Shrestha Shaw, Aya Yoshida, Shiomi Otsuji, Yuka Murofushi, Waleed Aamer, Ajaz Ahmad Bhat, Jehan AlRayahi, Ammira Al‐Shabeeb Akil, , Peter J. Cullen

This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.

medRxiv · Aug 17, 2024 · PreprintGenetic & Genomic Medicine

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