Low copy number of the salivary amylase gene predisposes to obesity

…, PH Sudmant, R Dorajoo, MN Al-Shafai… - Nature …, 2014 - nature.com
Common multi-allelic copy number variants (CNVs) appear enriched for phenotypic associations
compared to their biallelic counterparts 1 , 2 , 3 , 4 . Here we investigated the influence …

[HTML][HTML] Epigenetic associations of type 2 diabetes and BMI in an Arab population

WA Al Muftah, M Al-Shafai, SB Zaghlool, A Visconti… - Clinical …, 2016 - Springer
… The average BMI of the females was 28.3 (±6.2) kg/m 2 and of the males was 29.2 (±7.2)
kg/m 2 . A total of 30 individuals consisting of 19 females and 11 males were previously …

[HTML][HTML] Association of DNA methylation with age, gender, and smoking in an Arab population

…, M Al-Shafai, WA Al Muftah, P Kumar, M Falchi… - Clinical …, 2015 - Springer
… The mean body mass index of the females was 28.3 ± 6.2 kg/m 2 and of the males was
29.2 ± 7.2 kg/m 2 . The dataset comprised 13 smokers, all of whom were males, and 108 non-…

[HTML][HTML] A population study of clinically actionable genetic variation affecting drug response from the Middle East

…, D Bangarusamy, R Abdel-Latif, M Al-Shafai… - NPJ genomic …, 2022 - nature.com
Clinical implementation of pharmacogenomics will help in personalizing drug prescriptions
and alleviate the personal and financial burden due to inefficacy and adverse reactions to …

[HTML][HTML] Knowledge and perception of and attitude toward a premarital screening program in Qatar: A cross-sectional study

M Al-Shafai, A Al-Romaihi, N Al-Hajri, N Islam… - International journal of …, 2022 - mdpi.com
Premarital screening (PMS) is a primary preventive measure to decrease the incidence of
certain genetic disorders and sexually transmitted diseases. This study aimed to explore the …

[HTML][HTML] The genetic elucidation of monogenic obesity in the Arab world: a systematic review

…, K Al-Shafai, M Al-Shafai - Journal of Pediatric …, 2022 - degruyter.com
Background Investigation of monogenic obesity (MO), a rare condition caused by a single
gene variant(s), especially in consanguineous populations, is a powerful approach for …

[HTML][HTML] The special features of prenatal and preimplantation genetic counseling in Arab countries

SD Malik, M Al-Shafai, AM Abdallah - Genes, 2022 - mdpi.com
Genetic counseling services have only recently been introduced in most Arab countries,
and their utilization is increasing. Prenatal genetic counseling is essential, particularly in the …

[HTML][HTML] Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review

…, AM Abdallah, K Hussain, M Al-Shafai - Orphanet Journal of Rare …, 2023 - Springer
Background Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic
disorder with variable clinical manifestations mainly affecting the endocrine and nervous …

[HTML][HTML] The spectrum of genetic variants associated with the development of monogenic obesity in Qatar

…, RE Zaied, K Al-Shafai, M Nofal, N Syed, M Al-Shafai - Obesity Facts, 2022 - karger.com
… BMI of 40.3 ± 3.7 kg/m 2 and 250 controls with an average BMI of 22.6 ± 1.7 kg/m 2 . Among
the … One of our subjects with a BMI of 37.2 kg/m 2 was a heterozygous carrier of the POMC …

[HTML][HTML] Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population

S Malik, R Zaied, N Syed, P Jithesh, M Al-Shafai - Human Genomics, 2021 - Springer
… Arg74Pro, where the native residue is substituted for the smaller residue, proline, m p.Arg330His,
n p.Glu317Lys, o p.… Mashael Al-Shafai … Correspondence to Mashael Al-Shafai. …