Spectrum of genetic variants in bilateral sensorineural hearing lossAmanat Ali, Hiba Alblooshi, Mohammed Tabouni et al.|Frontiers in Genetics|2024Cited by 8
Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrumPraseetha Kizhakkedath, Hiba Alblooshi, Saeed Al-Turki et al.|Frontiers in Genetics|2023Cited by 5
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysisFeda E. Mohamed, Fatma Al‐Jasmi, Mohammad A. Ghattas et al.|Frontiers in Pediatrics|2023Cited by 4
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health recordsNadia Akawi, Fatma Al Jasmi, Ghadeera Al Mansoori et al.|Frontiers in Molecular Biosciences|2024Cited by 3
Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitisNajla Aljaberi, Hiba Alblooshi, R Gopal et al.|Lupus Science & Medicine|2025Cited by 2