2016
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE, Patel N, Hashem M, Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al sharif H, Alamoudi W, Kentab A, Bashiri FA, Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, Hashem A, Al Asmari A, Saleh MM, AlSaman A, Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Osama Khalil R, Abd El.Meguid N, Masri A, Ali R, Ben-Omran T, El.Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Altassan N, Arold ST, Abouelhoda M, Wakil SM, Monies D, Shaheen R, Alkuraya FS. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Molecular Psychiatry 2016, 22: 615-624. PMID: 27431290, DOI: 10.1038/mp.2016.113.Peer-Reviewed Original ResearchConceptsStandard clinical evaluationDiagnostic yieldFirst-tier testExome sequencingClinical evaluationIntellectual disabilityHigh diagnostic yieldLikely pathogenic variantsMulti-gene panelStudy cohortLikely diagnosisTreatable formID subjectsDe novo dominantPathogenic variantsHomozygous mutationRecessive variantsLines of evidencePoint mutationsCandidate genesNovel candidate genesCohortDiagnosisLikely causal variantsHigh consanguinity
2005
Rapid array‐based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)
Drazinic CM, Ercan‐Sencicek A, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW. Rapid array‐based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23). American Journal Of Medical Genetics Part A 2005, 134A: 282-289. PMID: 15754353, DOI: 10.1002/ajmg.a.30616.Peer-Reviewed Original ResearchMeSH KeywordsChromosome BandingChromosomes, Artificial, BacterialChromosomes, Human, Pair 18Chromosomes, Human, Pair 5FemaleHumansIn Situ Hybridization, FluorescenceKaryotypingMagnetic Resonance ImagingMiddle AgedNucleic Acid HybridizationPolymorphism, Single NucleotidePsychotic DisordersTranslocation, GeneticConceptsBacterial artificial chromosomeChromosome 18Molecular cytogenetic mappingSingle nucleotide polymorphism arrayArray-based copy number analysisCytogenetic mappingNucleotide polymorphism arrayCopy number analysisArray-based methodsSubtle chromosomal abnormalitiesSNP chipArtificial chromosomesChromosomal intervalChromosomal rearrangementsDerivative chromosome 18Array findingsSNP arrayGenomic characterizationLinkage analysisArray-based experimentsPolymorphism array