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
The genetic structure of the Turkish population reveals high levels of variation and admixture
Kars ME, Başak AN, Onat OE, Bilguvar K, Choi J, Itan Y, Çağlar C, Palvadeau R, Casanova JL, Cooper DN, Stenson PD, Yavuz A, Buluş H, Günel M, Friedman JM, Özçelik T. The genetic structure of the Turkish population reveals high levels of variation and admixture. Proceedings Of The National Academy Of Sciences Of The United States Of America 2021, 118: e2026076118. PMID: 34426522, PMCID: PMC8433500, DOI: 10.1073/pnas.2026076118.Peer-Reviewed Original ResearchConceptsGenetic structureTR populationGenome-wide association studiesRuns of homozygosityGenomes Project populationsHigh inbreeding coefficientsDisease gene discoveryHigh-quality haplotypesPotential medical relevanceGene discoveryExtensive admixturePhenotypic consequencesWhole genomeGenetic basisInbreeding coefficientSpecific genesRare rangeGenome variantsAssociation studiesGenetic relationshipsFunctional consequencesWhole exomeSpecific phenotypesGenotype imputationMedical relevance
2016
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. Journal Of Human Genetics 2016, 61: 395-403. PMID: 26740239, PMCID: PMC4880488, DOI: 10.1038/jhg.2015.160.Peer-Reviewed Original ResearchMeSH KeywordsAlpha-Ketoglutarate-Dependent Dioxygenase FTOApoptosisBiopsyChild, PreschoolCholesterol Ester Transfer ProteinsComputational BiologyConsanguinityDNA Copy Number VariationsDNA Mutational AnalysisExomeFemaleGene ExpressionGene Expression ProfilingGenetic Association StudiesGenotypeHigh-Throughput Nucleotide SequencingHomozygoteHumansMutation, MissensePhenotypeTranscriptome
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
2013
Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype
Tüysüz B, Yılmaz S, Gül E, Kolb L, Bilguvar K, Evliyaoğlu O, Günel M. Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype. American Journal Of Medical Genetics Part A 2013, 161: 1300-1308. PMID: 23633440, DOI: 10.1002/ajmg.a.35906.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAdolescentAdultCalcification, PhysiologicCodon, NonsenseConsanguinityDehydroepiandrosteroneDehydroepiandrosterone SulfateDwarfismFemaleGenotypeGrowth DisordersHomozygoteHumansMaleMultienzyme ComplexesMusculoskeletal AbnormalitiesOsteochondrodysplasiasPedigreePhenotypeRadiographySequence Analysis, DNASulfate AdenylyltransferaseTurkeyConceptsDHEA sulfate levelsShort femoral neckShort halluxFemale patientsInsulin resistanceFemoral neckPlasma levelsIliac boneTestosterone levelsTurkish patientsCoxa varaPatientsVertebral bodyMetaphyseal abnormalitiesShort statureSkeletal dysplasiaEpiphyseal ossificationHyperandrogenismDysplasiaDehydroepiandrosteroneSulfate levelsTurkish familyNonsense mutationPAPSS2AndrostenedioneWhole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum
Caglayan A, Per H, Akgumus G, Gumus H, Baranoski J, Canpolat M, Calik M, Yikilmaz A, Bilguvar K, Kumandas S, Gunel M. Whole‐exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum. Clinical Genetics 2013, 84: 394-395. PMID: 23320496, PMCID: PMC4191904, DOI: 10.1111/cge.12088.Peer-Reviewed Original ResearchA new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
Degerliyurt A, Akgumus G, Caglar C, Bilguvar K, Caglayan A. A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity? Genetic Counseling 2013, 24: 283-9. PMID: 24341143.Peer-Reviewed Original ResearchConceptsAndermann syndromeCorpus callosumCortical electrical activityAutosomal recessive disorderPeripheral neuropathyProgressive neuropathySevere neuropathyYear old Turkish boyNew patientsPsychiatric symptomsExtracellular ion concentrationsClinical attentionConsanguineous parentsImaging studiesNeuropathySyndromeThird decadeRecessive disorderElectrical activityMental retardationDysmorphic characteristicsAreflexiaTurkish boyAgenesisCallosum
2011
Recessive LAMC3 mutations cause malformations of occipital cortical development
Barak T, Kwan KY, Louvi A, Demirbilek V, Saygı S, Tüysüz B, Choi M, Boyacı H, Doerschner K, Zhu Y, Kaymakçalan H, Yılmaz S, Bakırcıoğlu M, Çağlayan A, Öztürk A, Yasuno K, Brunken WJ, Atalar E, Yalçınkaya C, Dinçer A, Bronen RA, Mane S, Özçelik T, Lifton RP, Šestan N, Bilgüvar K, Günel M. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics 2011, 43: 590-594. PMID: 21572413, PMCID: PMC3329933, DOI: 10.1038/ng.836.Peer-Reviewed Original Research
2010
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics 2010, 11: 319-325. PMID: 20082205, DOI: 10.1007/s10048-009-0232-y.Peer-Reviewed Original ResearchConceptsCerebellar hypoplasiaMajority of patientsLow-density lipoprotein receptorConstellation of findingsNon-progressive cerebellar ataxiaDensity lipoprotein receptorAutosomal recessive patternHomozygous deletionNeurological sequelaePontocerebellar atrophyDisequilibrium syndromeTurkish familyCerebellar atrophyNovel homozygous deletionLipoprotein receptorCerebellar ataxiaHypoplasiaMotor developmentMotor disabilityTurkish siblingsRecessive patternVLDLR geneCongenital ataxiaHeterogeneous groupSingle nucleotide polymorphisms
2008
Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population
Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M. Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population. Neurogenetics 2008, 9: 119-125. PMID: 18322713, DOI: 10.1007/s10048-008-0121-9.Peer-Reviewed Original ResearchConceptsNeurotrophic tyrosine kinase receptor type 1Autonomic neuropathy type IVHSAN IVHereditary sensoryNTRK1 geneTurkish populationFounder mutationType IVReceptor type 1Nerve growth factorSplice site mutationAutosomal recessive disorderCongenital insensitivityNovel frameshift mutationSame splice site mutationNTRK1 mutationsNoxious stimuliType 1Motor developmentSweat glandsGrowth factorNovel nonsense mutationRecessive disorderSpectrum of mutationsAnhidrosis