Author

Nouriya Abbas Al-Sannaa

Saudi Aramco Medical Services OrganizationORCID 0000-0002-0828-7443Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Henry HouldeniD· 3 shared Reza MaroofianiD· 3 shared Aida Maria Bertoli‐AvellaiD· 2 shared Emir ZoniciD· 2 shared Peter BaueriD· 2 shared A. Arockia Jeyaprakash· 1 shared Abraham José Paredes-FuentesiD· 1 shared Adeline L. VanderveriD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 32 mutual co-author links

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

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3 shared papersGenetic & Genomic Medicine

Henry HouldenORCID

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3 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 MedicineNature CommunicationsPeer-reviewedFeb 17, 2025

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

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian…·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.

DOI 10.1038/s41467-025-56876-w

zebrafishwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintNov 27, 2024

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

Natalia Juliá‐Palacios, Gerard Muñoz‐Pujol, Reza Maroofian…·Roser Urreizti

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

DOI 10.1101/2024.11.27.24317634

humanbulk RNA-seq

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