2022
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience
Altassan R, Sulaiman R, Alfalah A, Alwagiat W, Megdad E, Alqasabi D, Handoom B, Almesned M, Al-Amri H, Alhassnan Z, Alsayed M, Alzaidan H, Rahbeeni Z, Derar N, Al-Owain M, Albanyan E. COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience. European Journal Of Medical Genetics 2022, 65: 104602. PMID: 36049607, PMCID: PMC9424117, DOI: 10.1016/j.ejmg.2022.104602.Peer-Reviewed Original ResearchConceptsInherited metabolic disordersInherited metabolic disorders patientsCOVID-19 infectionMetabolic disordersMetabolic decompensationEnergy metabolism disorderHigh riskOutcomes of COVID-19 infectionCourse of COVID-19 infectionClinical course of COVID-19 infectionAcute metabolic decompensationCross-sectional retrospective studyIntensive care managementIncidence of COVID-19 infectionClinical courseMedian ageSevere complicationsAcute pancreatitisRelated complicationsRetrospective studyIMD patientsMetabolic acidosisUnvaccinated patientsExposure to infectionDisease manifestations
2018
De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype
Derar N, Al-Hassnan Z, Al-Owain M, Monies D, Abouelhoda M, Meyer B, Moghrabi N, Alkuraya F. De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype. Genetics In Medicine 2018, 21: 185-188. PMID: 29892088, DOI: 10.1038/s41436-018-0014-8.Peer-Reviewed Original ResearchConceptsDe novo truncating variantsHaploinsufficiency of multiple genesSingle-gene levelMicrodeletion syndromeDisease genesGenomic disordersExome sequencingMultiple genesSingle-geneWHSC1Syndrome phenotypeCore phenotypePhenotypePhenotypic expressionLociWolf-HirschhornGenesPhenotypic componentsMicrodeletionHaploinsufficiencyVariantsMilder variantsHemizygosityConclusionOur studySequence