Author
Al Jalila Foundation
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
7 papers
Recent·Most cited
Brad Hall, Sawsan Alyafei, Sathishkumar Ramaswamy, Shruti Sinha, Maha El Naofal, Fatma Rabea, Bryan Killinger, Gary J. Latham, Ahmad N. Abou Tayoun
The paper develops a PCR/Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis with high accuracy and scalability.
medRxiv · Feb 22, 2024 · PreprintGenetic & Genomic Medicine
Rania Najm, Lemis Yavuz, Ruchi Jain, Maha El Naofal, Sathishkumar Ramaswamy, Walid Abuhammour, Tom Loney, Norbert R. Nowotny, Alawi A.A. Alsheikh-Ali, Ahmad N. Abou Tayoun, Richard K. Kandasamy
This study identifies IFIH1 loss-of-function variants in patients with inflammatory and SARS-CoV-2-related diseases, showing impaired immune responses and increased susceptibility.
medRxiv · Oct 13, 2023 · PreprintGenetic & Genomic Medicine
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
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
Walid Abuhammour, Lemis Yavuz, Ruchi Jain, Khawla Abu Hammour, Ghalia F. Al-Hammouri, Maha El Naofal, Nour Halabi, Sawsan Yaslam, Sathishkumar Ramaswamy, Alan Taylor, Deena Wafadari, Ali Alsarhan, Hamda Hassan Khansaheb, Zulfa Deesi, Rupa Murthy Varghese, , Ahmad N. Abou Tayoun
This study identifies rare genetic variants in MIS-C patients from the Middle East, linking them to disease onset and treatment resistance.
JAMA Network Open · May 31, 2022Peer-reviewedGenetic & Genomic Medicine
Sathishkumar Ramaswamy, Ruchi Jain, Maha El Naofal, Nour Halabi, Sawsan Yaslam, Alan Taylor, Ahmad N. Abou Tayoun
The paper highlights the importance of Middle Eastern genetic variation in improving clinical genome annotation and variant interpretation by presenting a new database with unique variants not found in existing resources.
Journal of Personalized Medicine · Mar 9, 2022Peer-reviewedGenomics
Basil M. Fathalla, Ali Alsarhan, Samina Afzal, Maha El Naofal, Ahmad N. Abou Tayoun
This study performs genomic analysis on pediatric rheumatology patients in the Middle East, finding that comprehensive sequencing identifies pathogenic variants in multiple genes, with MEFV and IFIH1 being significant contributors.
Human Mutation · Jan 15, 2021Peer-reviewedGenetic & Genomic Medicine