Author

Aljazi Al-Maraghi

Sidra Medical and Research Center

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 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Ammira Al‐Shabeeb AkiliD· 2 shared Aaron J. GoldenbergiD· 1 shared Aditi SatijaiD· 1 shared Ajaz Ahmad BhatiD· 1 shared Akihiko SaitoiD· 1 shared Alberte Lundquist· 1 shared Aldona Zygmunt· 1 shared Alessandra FerliniiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ammira Al‐Shabeeb AkilORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 9, 2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Thomas Minten, Sarah Bick, Sophia M. Adelson…·Dominique C. Pichard

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

73 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintAug 17, 2024

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

Kohji Kato, Yosuke Nishio, Kirsty J. McMillan…·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.

2 citations

humanmouse

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