2024
Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome
Zarate Y, Bosanko K, Derar N, Fish J. Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome. Clinical Genetics 2024, 106: 209-213. PMID: 38693682, PMCID: PMC11216868, DOI: 10.1111/cge.14540.Peer-Reviewed Original ResearchConceptsSATB2-associated syndromeMutant miceAutosomal dominant disorderAnalyzed mutant miceEmbryonic mouse developmentDental anomaliesCraniofacial abnormalitiesMandibular distractionTrigeminal gangliaCraniofacial phenotypeClinical phenotypeDominant disorderCraniofacial developmentMouse developmentMicePhenotypic aspectsPatient dataThyroidSyndromeAbnormalitiesLower jawPharyngeal arch-derived structuresSATB2Mandibular morphologyPhenotype
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
2021
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
Al-Hamed M, Kurdi W, Khan R, Tulbah M, AlNemer M, AlSahan N, AlMugbel M, Rafiullah R, Assoum M, Monies D, Shah Z, Rahbeeni Z, Derar N, Hakami F, Almutairi G, AlOtaibi A, Ali W, AlShammasi A, AlMubarak W, AlDawoud S, AlAmri S, Saeed B, Bukhari H, Ali M, Akili R, Alquayt L, Hagos S, Elbardisy H, Akilan A, Almuhana N, AlKhalifah A, Abouelhoda M, Ramzan K, Sayer J, Imtiaz F. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes. Human Genetics 2021, 141: 101-126. PMID: 34853893, DOI: 10.1007/s00439-021-02406-9.Peer-Reviewed Original ResearchConceptsChromosomal microarray analysisExome sequencingConsanguineous populationsFetal anomaliesMicroarray analysisHeterozygous de novo pathogenic variantLoss of function variantsFetal phenotypeParental DNA samplesFetal abnormalitiesDiagnostic yieldMolecular genetic defectMolecular genetic diagnosticsHistory of congenital anomaliesPrenatal exome sequencingVariable diagnostic yieldCiliopathy genesFetal structural anomaliesMolecular genetic abnormalitiesStructural anomaliesCiliopathy disordersCiliopathy syndromesFunctional variantsNovel variantsGenetic diagnostics
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
2016
Acyclovir-Induced Neurotoxicity
Chowdhury M, Derar N, Hasan S, Hinch B, Ratnam S, Assaly R. Acyclovir-Induced Neurotoxicity. American Journal Of Therapeutics 2016, 23: e941-e943. PMID: 24942005, DOI: 10.1097/mjt.0000000000000093.Peer-Reviewed Original ResearchConceptsHigh index of suspicionAcyclovir-induced neurotoxicityEnd-stage renal diseaseIndex of suspicionAcyclovir neurotoxicityAcyclovir useRenal impairmentHerpes encephalitisRenal diseaseHemodialysis sessionHigh indexSide effectsDaily hemodialysisNormal mentationClinical practiceHemodialysisNeurotoxicity