Genetic and clinical characteristics of patients in the middle east with multisystem inflammatory syndrome in children W Abuhammour, L Yavuz, R Jain, KA Hammour, GF Al-Hammouri, ... JAMA network open 5 (5), e2214985-e2214985, 2022 | 15 | 2022 |
The genomic landscape of rare disorders in the Middle East M El Naofal, S Ramaswamy, A Alsarhan, A Nugud, F Sarfraz, H Janbaz, ... Genome Medicine 15 (1), 5, 2023 | 14 | 2023 |
Utility of clinical exome sequencing in a complex Emirati pediatric cohort NA Mahfouz, P Kizhakkedath, A Ibrahim, M El Naofal, S Ramaswamy, ... Computational and structural biotechnology journal 18, 1020-1027, 2020 | 14 | 2020 |
Role of CDKN2C fluorescence in situ hybridization in the management of medullary thyroid carcinoma M El Naofal, A Kim, HY Yon, M Baity, Z Ming, J Bui-Griffith, Z Tang, ... Annals of Clinical & Laboratory Science 47 (5), 523-528, 2017 | 14 | 2017 |
The genomic landscape of pediatric rheumatology disorders in the Middle East BM Fathalla, A Alsarhan, S Afzal, M El Naofal, A Abou Tayoun Human Mutation 42 (4), e1-e14, 2021 | 12 | 2021 |
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations N Halabi, S Ramaswamy, M El Naofal, A Taylor, S Yaslam, R Jain, ... Genome Medicine 14 (1), 56, 2022 | 8 | 2022 |
Middle Eastern genetic variation improves clinical annotation of the human genome S Ramaswamy, R Jain, M El Naofal, N Halabi, S Yaslam, A Taylor, ... Journal of Personalized Medicine 12 (3), 423, 2022 | 7 | 2022 |
Chimeric RNAs reveal putative neoantigen peptides for developing tumor vaccines for breast cancer B Mistretta, S Rankothgedera, M Castillo, M Rao, K Holloway, A Bhardwaj, ... Frontiers in immunology 14, 1188831, 2023 | 1 | 2023 |
Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients BA Badla, MS Hanifa, R Jain, M El Naofal, N Halabi, S Yaslam, ... medRxiv, 2023.01. 11.23284427, 2023 | 1 | 2023 |
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases A Abou Tayoun, S Sinha, F Rabea, S Ramaswamy, I Chekroun, ... | | 2024 |
Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations A Abou Tayoun, F Rabea, M El Naofal, I Chekroun, M Khalaf, N AlZaabi, ... | | 2024 |
A dual-mode targeted Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis B Hall, S Yaslam, S Ramaswamy, S Sinha, M El Naofal, F Rabea, ... medRxiv, 2024.02. 22.24303180, 2024 | | 2024 |
Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive A Taylor, PS Kashyape, R Jain, M El Naofal, AA Tayoun American Journal of Medical Genetics Part A 191 (11), 2723-2727, 2023 | | 2023 |
IFIH1 loss-of-function predisposes to inflammatory and SARS-CoV-2-related infectious diseases (preprint) R Najm, L Yavus, R Jain, M El Naofal, S Ramaswamy, W Abuhammour, ... | | 2023 |
IFIH1 loss-of-function predisposes to inflammatory and SARS-CoV-2-related infectious diseases R Najm, L Yavus, R Jain, M El Naofal, S Ramaswamy, W Abuhammour, ... medRxiv, 2023.10. 13.23297034, 2023 | | 2023 |
P456: Genetic testing and screening for spinal muscular atrophy in the Middle East M El Naofal, A Abou Tayoun Genetics in Medicine Open 1 (1), 2023 | | 2023 |