User profiles for Faiqa Imtiaz

Faiqa Imtiaz

Senior Clinical Scientist, King Faisal Specialist Hospital & Research Centre
Verified email at kfshrc.edu.sa
Cited by 2259

[HTML][HTML] Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture

…, SQ Mehdi, L Groop, EM Vestergaard, F Imtiaz… - The American Journal of …, 2008 - cell.com
The T −13910 variant located in the enhancer element of the lactase (LCT) gene correlates
perfectly with lactase persistence (LP) in Eurasian populations whereas the variant is almost …

[HTML][HTML] Genetic association analysis of 77,539 genomes reveals rare disease etiologies

…, T Ohata, H Stewart, K Taibah, CLS Turner, F Imtiaz… - Nature Medicine, 2023 - nature.com
The genetic etiologies of more than half of rare diseases remain unknown. Standardized
genome sequencing and phenotyping of large patient cohorts provide an opportunity for …

[HTML][HTML] Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

…, D Monies, N Al-Tassan, K Ramzan, F Imtiaz… - Genetics in …, 2016 - Elsevier
Background Most autosomal recessive diseases are rare, but they collectively account for a
substantial proportion of disease burden, especially in consanguineous populations. …

[HTML][HTML] Variation in DNAH1 may contribute to primary ciliary dyskinesia

F Imtiaz, R Allam, K Ramzan, M Al-Sayed - BMC medical genetics, 2015 - Springer
Background Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused
by ultrastructural defects in ciliary or flagellar structure and is characterized by a number …

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

…, S Fitoz, XZ Liu, A Farooq, F Imtiaz… - Proceedings of the …, 2016 - National Acad Sciences
Hair cells of the inner ear, the mechanosensory receptors, convert sound waves into neural
signals that are passed to the brain via the auditory nerve. Little is known about the …

Genetic Study of Saudi Diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes

…, K Al‐Rubeaan, SM Wakil, F Imtiaz… - Diabetes/metabolism …, 2008 - Wiley Online Library
Background The E23K variant of KCNJ11 has been associated with type 2 diabetes (T2D) in
several but not all populations studied. Thus far, despite a high incidence of T2D, the role of …

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature

O Khalifa, Z Al-Sahlawi, F Imtiaz, K Ramzan… - European Journal of …, 2015 - Elsevier
Donnai-Barrow syndrome (DBS; MIM 222448 ) is characterized by typical craniofacial
anomalies (major hypertelorism with bulging eyes), high grade myopia, deafness and low …

[HTML][HTML] Residual risk for additional recessive diseases in consanguineous couples

…, S Alrashseed, A Alsulaiman, R Helaby, F Imtiaz… - Genetics in …, 2021 - Elsevier
Purpose Consanguineous couples are typically counseled based on familial pathogenic
variants identified in affected children. The residual risk for additional autosomal recessive (AR) …

An apamin-and scyllatoxin-insensitive isoform of the human SK3 channel

OH Wittekindt, V Visan, H Tomita, F Imtiaz… - Molecular …, 2004 - ASPET
We have isolated an hSK3 isoform from a human embryonic cDNA library that we have
named hSK3_ex4. This isoform contains a 15 amino acid insertion within the S5 to P-loop …

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

…, W Ali, N Al-Numair, N Almejaish, JA Sayer, F Imtiaz - Pediatric …, 2019 - Springer
Background Polycystic kidney disease (PKD) is one of the most common genetic renal
diseases and may be inherited in an autosomal dominant or autosomal recessive pattern. …