2011
Multiple 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
2009
A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group
Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M. A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group. Journal Of Clinical Neuroscience 2009, 16: 1610-1614. PMID: 19793656, DOI: 10.1016/j.jocn.2009.03.022.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAniridiaChromosome AberrationsChromosomes, Human, Pair 11CytogeneticsEye ProteinsFamily HealthFemaleGene Expression ProfilingGenetic Predisposition to DiseaseHomeodomain ProteinsHumansMagnetic Resonance ImagingMaleOligonucleotide Array Sequence AnalysisPaired Box Transcription FactorsPAX6 Transcription FactorRepressor ProteinsSequence DeletionTurkeyConceptsCopy number variationsPAX6 geneNumber variationsArray-based comparative genomic hybridizationBox gene 6Submicroscopic copy number variationsHuman genomeComparative genomic hybridizationCytogenetic variationRegulatory elementsChromosome 11p13Human diseasesGenesGene 6Causative genesGenomic hybridizationSubmicroscopic deletionHeterozygous deletionDeletionLarge family groupsComplete absenceMolecular diagnosisFamily groupsChromosomal abnormalitiesGenome
2007
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. Journal Of Neurosurgery 2007, 107: 495-9. PMID: 18154020, DOI: 10.3171/ped-07/12/495.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleCarrier ProteinsChild, PreschoolChromosome DeletionChromosomes, Human, Pair 7Craniofacial AbnormalitiesDNAFemaleGene DosageHemangioma, Cavernous, Central Nervous SystemHeterozygoteHumansKruppel-Like Transcription FactorsNerve Tissue ProteinsOligonucleotide Array Sequence AnalysisReverse Transcriptase Polymerase Chain ReactionSyndromeZinc Finger Protein Gli3ConceptsGreig cephalopolysyndactyly syndromeCerebral cavernous malformationsDeleterious genetic variantsComparative genome hybridization analysisChromosome 7pArray-based CGHGene GLI3Distinct genesMultiple genesGenetic analysisGenomic DNANovel syndromeGenomic lesionsChromosome 7Contiguous gene syndromeQuantitative real-time polymerase chain reactionQuantitative RT-PCRGli3Hybridization analysis
2006
Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11q24-25 and 14q23-31
Ozturk AK, Nahed BV, Bydon M, Bilguvar K, Goksu E, Bademci G, Guclu B, Johnson MH, Amar A, Lifton RP, Gunel M. Molecular Genetic Analysis of Two Large Kindreds With Intracranial Aneurysms Demonstrates Linkage to 11q24-25 and 14q23-31. Stroke 2006, 37: 1021-1027. PMID: 16497978, DOI: 10.1161/01.str.0000206153.92675.b9.Peer-Reviewed Original ResearchMeSH KeywordsChromosomes, Human, Pair 11Chromosomes, Human, Pair 14FemaleGenetic LinkageGenotypeHumansIntracranial AneurysmLod ScoreMaleMolecular BiologyOligonucleotide Array Sequence AnalysisPedigreePhenotypeConceptsGenome-wide linkage analysisMolecular genetic analysisGenetic analysisSusceptibility genesLinkage analysisSimple Mendelian traitPolymorphic microsatellite markersSignificant LOD scoreGenomic regionsMendelian traitsMicrosatellite markersCandidate lociGene chipOutlier approachOdds (LOD) scoreGenesChromosome 11q24Chromosome 11qAvailable family membersLOD scoreGenetic heterogeneityIa geneLociSib pairsGenetic factors