Laila AlQuait
King Faisal Specialist Hospital & Research Centre(SA)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Mitochondrial Function and Pathology, Autophagy in Disease and Therapy, Cellular transport and secretion, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases(2019)70 cited
- → Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways(2020)28 cited
- → Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy(2020)25 cited
- → Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination(2019)23 cited
- → SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion(2021)14 cited
- → Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome(2020)12 cited
- → Identification of novel genomic imbalances in Saudi patients with congenital heart disease(2018)9 cited
- → Genetics of ataxia telangiectasia in a highly consanguineous population(2021)4 cited
- → Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population(2021)1 cited
- → A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard–Soulier syndrome(2021)