Author

Shruti Shenbagam

Al Jalila FoundationORCID 0009-0000-1470-4875Unclaimed 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· 4 Approach:statistical model· 4 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Ahmad N. Abou TayouniD· 4 shared Alan TayloriD· 4 shared Alawi A.A. Alsheikh-AliiD· 3 shared Ruchi JainiD· 3 shared Abdulla Al Khayat· 2 shared Fatma RabeaiD· 2 shared Fowzan Sami AlkurayaiD· 2 shared Maha El Naofal· 2 shared

Activity by Year

2023-2024 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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

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4 shared papersGenetic & Genomic Medicine

Ahmad N. Abou TayounORCID

Mutual co-authors in cluster

Author profile →

4 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

GENETIC COUNSELING IN THE MIDDLE EAST

Shruti Shenbagam, Alan Taylor, Ruchi Jain, Khalid Adnan Fakhro, Fowzan Sami Alkuraya, Ahmad N. Abou Tayoun

This study surveys healthcare professionals in the Middle East to understand challenges and perspectives on genetic counseling and testing, finding cultural and resource-related barriers and positive patient attitudes.

medRxiv · Sep 7, 2023 · PreprintGenetic & Genomic Medicine

The Genomic Landscape of Rare Disorders in the Middle East

Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Abd Alwahab Nugud, Fatima Sarfraz, Hiba Janbaz, Alan Taylor, Ruchi Jain, Nour Halabi, Sawsan Yaslam, Roudha Alfalasi, Shruti Shenbagam, Fatma Rabea, Martin M. Bitzan, Lemis Yavuz, , Ahmad N. Abou Tayoun

This study evaluates genomic diagnostic yield and clinical impact in rare disease patients from the Middle East, finding higher yields with sequencing than microarrays and highlighting diagnostic delays due to limited access.

Genome Medicine · Jan 26, 2023Peer-reviewedGenetic & Genomic Medicine

Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients

Beshr Abdulaziz Badla, Mohamed Samer Hanifa, Ruchi Jain, Maha El Naofal, Nour Halabi, Sawsan Yaslam, Sathishkumar Ramaswamy, Alan Taylor, Roudha Alfalasi, Shruti Shenbagam, Hamda Hassan Khansaheb, Hanan Sulaiman Al Suwaidi, Norbert R. Nowotny, Rizwana Popatia, Abdulla Al Khayat, , Ahmad N. Abou Tayoun

This study identifies rare genetic variants associated with severe COVID-19 in young Asian and Middle Eastern patients using whole exome sequencing.

medRxiv · Jan 11, 2023 · PreprintGenetic & Genomic Medicine