Author

Amna Mohammed Al-Futaisi

Sultan Qaboos UniversityORCID 0000-0002-8035-0849Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Aida Maria Bertoli‐AvellaiD· 2 shared Peter BaueriD· 2 shared A. Gulhan Ercan‐SencicekiD· 1 shared Abdulaziz Al Saman· 1 shared Ahmad N. Abou TayouniD· 1 shared Aisha Al ShamsiiD· 1 shared Alan TayloriD· 1 shared Alawi A.A. Alsheikh-AliiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Aida Maria Bertoli‐AvellaORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

Navin B. Ramakrishna, Yoshikazu Johmura, Nur Ain Ali, Umar Bin Mohamad Sahari, Malak Ali Alghamdi, Peter Bauer, Suliman Khan, Natalia Ordoñez, Mariana Ferreira, Jorge Pinto Basto, Fowzan Sami Alkuraya, Eissa Faqeih, Mari Mori, Naif A. M. Almontashiri, Aisha Al Shamsi, , Ahmad N. Abou Tayoun

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

medRxiv · Sep 28, 2024 · PreprintGenetic & Genomic Medicine

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Maysoon Alsagob, Ivan Čapo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, , Tahsin Stefan Barakat

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.

Acta Neuropathologica · Dec 9, 2019Peer-reviewedGenetics