2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal Of Human Genetics 2014, 23: 165-172. PMID: 24781755, PMCID: PMC4297910, DOI: 10.1038/ejhg.2014.82.Peer-Reviewed Original ResearchConceptsCell divisionFamily-based linkage analysisLinkage analysisRho effector proteinsLinear actin filamentsMaintenance of polarityMitotic cell divisionHigh-throughput sequencingRare genetic variantsHuman neuronal precursor cellsParametric multipoint linkage analysisActivation of GTPNeuronal precursor cellsFormin familyMammalian DiaphanousEffector proteinsMultipoint linkage analysisSpindle formationActin filamentsNonsense alterationWhole-exome sequencingHuman pathologiesNeuroepithelial cellsGenetic variantsHomozygous loss
2007
Rapid identification of disease‐causing mutations using copy number analysis within linkage intervals
Bayrakli F, Bilguvar K, Mason CE, DiLuna ML, Bayri Y, Gungor L, Terzi M, Mane SM, Lifton RP, State MW, Gunel M. Rapid identification of disease‐causing mutations using copy number analysis within linkage intervals. Human Mutation 2007, 28: 1236-1240. PMID: 17676595, DOI: 10.1002/humu.20592.Peer-Reviewed Original ResearchConceptsCopy number variationsComparative genome hybridization arraysParametric linkage analysisArray-based detectionCopy number analysisDisease-causing mutationsGenome rearrangementsLinkage intervalRapid identificationAutosomal recessive parkinsonismFunctional mutationsLinkage analysisNumber variationsRecessive parkinsonismHybridization arraysPARK2 gene
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 ResearchConceptsGenome-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