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
2014
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders
Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, De Camilli P, Zhao H, Šestan N, State MW. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism 2014, 5: 31. PMID: 24860643, PMCID: PMC4032628, DOI: 10.1186/2040-2392-5-31.Peer-Reviewed Original ResearchExperiment-wide significance thresholdDeleterious mutationsModules of genesNovel candidate genesRare deleterious mutationsCase/control association studySignificance thresholdASD-related genesProtein complexesDe novo mutationsCandidate genesVariety of functionsExpression patternsWhole-exome dataProtein structureAssociation studiesSequencing studiesNonsynonymous mutationsDeep resequencingControl association studySplice site variantConservation measuresSite variantsGenesHuman fetal brain development