Laila AlQuait

Statistics

Publications

Citations

174

H-Index

Active since

2019

Affiliations

King Faisal Specialist Hospital & Research Centre(Current)

King Saud University

Alfaisal University

Erasmus MC

St George's, University of London

Laila AlQuait is an author at King Faisal Specialist Hospital & Research Centre specializing in genetics, genetic disorders, and neurogenetic disorders.

Publications per year

2019–2021

Publications

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

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways

Mazhor Aldosary, Albandary AlBakheet, Hesham Aldhalaan et al. · OMICS A Journal of Integrative Biology · 2020 · 28 citations

Life Sciences, Genetics, Molecular Genetics +17

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Mohammed A. AlMuhaizea, Rawan Almass, Aljouhra AlHargan et al. · Acta Neuropathologica · 2020 · 26 citations · Full text

Life Sciences, Genetics, Neurology +12

Genetic and phenotypic characterization of <i>NKX6‐2</i>‐related spastic ataxia and hypomyelination

Viorica Chelban, Maysoon Alsagob, Katja Kloth et al. · European Journal of Neurology · 2019 · 23 citations · Full text

Life Sciences, Genetics, Neurology +16

<scp>SLC25A42</scp>‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim et al. · JIMD Reports · 2021 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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