2017
Neurogenetic analysis of childhood disintegrative disorder
Gupta AR, Westphal A, Yang DYJ, Sullivan CAW, Eilbott J, Zaidi S, Voos A, Vander Wyk BC, Ventola P, Waqar Z, Fernandez TV, Ercan-Sencicek AG, Walker MF, Choi M, Schneider A, Hedderly T, Baird G, Friedman H, Cordeaux C, Ristow A, Shic F, Volkmar FR, Pelphrey KA. Neurogenetic analysis of childhood disintegrative disorder. Molecular Autism 2017, 8: 19. PMID: 28392909, PMCID: PMC5379515, DOI: 10.1186/s13229-017-0133-0.Peer-Reviewed Original ResearchAdaptor Proteins, Signal TransducingAutism Spectrum DisorderBasic Helix-Loop-Helix Transcription FactorsBrainBrain MappingCase-Control StudiesChildChild, PreschoolChromosomes, Human, XDisease ProgressionDNA Copy Number VariationsExome SequencingFemaleGene ExpressionHumansIntellectual DisabilityMagnetic Resonance ImagingMaleMaternal InheritanceNuclear ProteinsPhenotypePolymorphism, GeneticSeverity of Illness IndexSiblingsTranscription FactorsTranscriptome
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
2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathwayUse of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Human Molecular Genetics 2011, 20: 4360-4370. PMID: 21865298, PMCID: PMC3196886, DOI: 10.1093/hmg/ddr363.Peer-Reviewed Original ResearchMeSH KeywordsAutistic DisorderComparative Genomic HybridizationDNA Copy Number VariationsExonsFemaleHumansMaleMixed Function OxygenasesConceptsCopy number variantsSingle protein-coding geneProtein-coding genesNumber variantsSingle nucleotide polymorphism arrayArray comparative genomic hybridizationExonic copy number variantsSmall copy number variantsComparative genomic hybridizationFirst enzymeUnique exonsX chromosomeRefSeq genesGenomic variantsHeterogeneous genetic etiologyOligonucleotide arraysPolymorphism arrayIndividual B cellsClonal outgrowthAutism familiesExonic deletionsGenomic hybridizationSimons Simplex CollectionHemizygous deletionSomatic mutationsMultiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron 2011, 70: 863-885. PMID: 21658581, PMCID: PMC3939065, DOI: 10.1016/j.neuron.2011.05.002.Peer-Reviewed Original ResearchAdolescentCadherinsCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalChildChild Development Disorders, PervasiveChild, PreschoolChromosomes, Human, Pair 16Chromosomes, Human, Pair 7Chromosomes, Human, XDNA Copy Number VariationsFamily HealthFemaleGene DuplicationGene Expression ProfilingGenome-Wide Association StudyGenotypeHumansMaleNerve Tissue ProteinsNeural Cell Adhesion MoleculesOligonucleotide Array Sequence AnalysisPhenotypeProteinsSiblingsUbiquitin ThiolesteraseUbiquitin-Specific Peptidase 7Williams Syndrome
2010
Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome
Bayrakli F, Bilguvar K, Ceyhan D, Ercan‐Sencicek A, Cankaya T, Bayrakli S, Guney I, Mane S, State M, Gunel M. Heterozygous 5p13.3‐13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome. Clinical Genetics 2010, 77: 499-502. PMID: 20447154, DOI: 10.1111/j.1399-0004.2010.01411.x.Commentaries, Editorials and Letters