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Maha El Naofal
Maha El Naofal
Al Jalila Children's Specialty Hospital
Verified email at ajch.ae - Homepage
Title
Cited by
Cited by
Year
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
152022
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
142023
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
142020
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
142017
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
122021
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
82022
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
72022
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
12023
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
12023
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
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