Author

Eissa Faqeih

King Fahd Medical CityORCID 0000-0002-3123-1704Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Fowzan Sami AlkurayaiD· 2 shared Abdulaziz Al Saman· 1 shared Adam JacksoniD· 1 shared Ahmad N. Abou TayouniD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Aisha Al ShamsiiD· 1 shared Alan TayloriD· 1 shared Alawi A.A. Alsheikh-AliiD· 1 shared

Activity by Year

2022-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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

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2 shared papersGenetic & Genomic Medicine

Fowzan Sami AlkurayaORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 28, 2024

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…·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.

1 citation

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintJun 14, 2024

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis

Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens…·Alexander Hoischen

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

2 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintAug 9, 2022

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

Carolina Gracia-Diaz, Yijing Zhou, Qian Yang…·Naiara Akizu

1 citation

humanexperimental assay

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