Author

Jorge Pinto Basto

Centogene (Germany)ORCID 0000-0002-5146-613XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Abdulaziz Al Saman· 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 Almundher A. Al-MaawaliiD· 1 shared Amna Mohammed Al-FutaisiiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abdulaziz Al Saman

Mutual co-authors in cluster

Author profile →

1 paper

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