2022
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingLaterality defectsUnique genetic architectureCongenital heart diseaseConsanguineous familyGenetic architectureCausal genesCHD genesGenome analysisHomozygous variantGenetic landscapeGenetic lesionsGenomic alterationsHeart diseaseConsanguineous populationFunction variantsRecessive variantsCHD probandsGenesType of CHDMutation spectrumStructural congenital heart diseaseVariantsCHD subjectsAdditional patients
2021
Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)
KAYMAKCALAN H, Hande A, CAGLAYAN A, GULBAHAR O, GOKMEN E, NIKEREL E. Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE). Marmara Medical Journal 2021, 34: 274-278. DOI: 10.5472/marumj.1009115.Peer-Reviewed Original ResearchWhole-exome sequencingExome sequencingHereditary angioedemaU-HAEGenetic alterationsDownstream functional analysisMyoF geneNormal C1 inhibitorControl groupBlood coagulation pathwayGenesFunctional analysisNo significant differenceRare diseasePathwayC1 inhibitorMutationsPatientsUnknown causeCoagulation pathwaySequenceSignificant differenceAngioedemaVariantsC1QBP
2017
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features
Çağlayan AO, Sezer RG, Kaymakçalan H, Ulgen E, Yavuz T, Baranoski JF, Bozaykut A, Harmanci AS, Yalcin Y, Youngblood MW, Yasuno K, Bilgüvar K, Gunel M. ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. Molecular Case Studies 2017, 3: a001859. PMID: 28630369, PMCID: PMC5593152, DOI: 10.1101/mcs.a001859.Peer-Reviewed Original ResearchConceptsNovel homozygous frameshift mutationWk of gestationHomozygous pathogenic variantNovel disease-causing genesPhenotypic featuresHomozygous frameshift mutationWhole-exome sequencingHeterozygous family membersUnrelated consanguineous familiesEchocardiographic examinationDisease groupPrimary cardiomyopathyMale infantHypertrophic cardiomyopathyRoutine diagnostic toolCardiac diseaseCardiac abnormalitiesMale fetusesCardiomyopathyPathogenic variantsGenetic testingDysmorphic featuresGene mutationsPast historyDisease-causing genes
2014
Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations
Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M. Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations. Pediatric Neurology 2014, 51: 806-813.e8. PMID: 25456301, PMCID: PMC5056964, DOI: 10.1016/j.pediatrneurol.2014.08.025.Peer-Reviewed Original ResearchConceptsBrain malformationsKnobloch syndromeCentral nervous system malformationsExpanding Clinical SpectrumStructural brain abnormalitiesStructural brain malformationsNervous system malformationsHuman cerebral cortexHuman cortical developmentWhole-exome sequencingConfirmatory Sanger sequencingCase seriesClinical presentationCerebral cortexClinical spectrumBrain abnormalitiesOcular abnormalitiesSystem malformationsClinical utilityCortical developmentImmunohistochemical analysisRare diseaseCOL18A1 mutationsBrain developmentPatients
2010
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Bilgüvar K, Öztürk A, Louvi A, Kwan KY, Choi M, Tatlı B, Yalnızoğlu D, Tüysüz B, Çağlayan A, Gökben S, Kaymakçalan H, Barak T, Bakırcıoğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yılmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçınkaya C, Kumandaş S, Topçu M, Özmen M, Šestan N, Lifton RP, State MW, Günel M. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 2010, 467: 207-210. PMID: 20729831, PMCID: PMC3129007, DOI: 10.1038/nature09327.Peer-Reviewed Original ResearchConceptsAbnormal cortical developmentWD repeat domain 62 (WDR62) geneSevere brain malformationsWhole-exome sequencingBrain abnormalitiesBrain malformationsCortical developmentMolecular pathogenesisCerebellar hypoplasiaWDR62 mutationsEmbryonic neurogenesisDiagnostic classificationMicrocephaly genesSmall family sizeGenetic heterogeneityWide spectrumRecessive mutationsPachygyriaPathogenesisHypoplasiaNeocortexNeurogenesisAbnormalitiesMalformationsMutations