Kaya Bilguvar, MD, PhD
he/him/his
Associate Professor AdjunctDownloadHi-Res Photo
Cards
Appointments
Neurosurgery
Primary
Contact Info
About
Titles
Associate Professor Adjunct
Appointments
Neurosurgery
Associate Professor AdjunctPrimary
Other Departments & Organizations
- Brain Tumor Research
- Neurogenetics Program
- Neurosurgery
- Yale Ventures
Education & Training
- PhD
- Marmara University, Medical Biology and Genetics (2022)
- Postdoctoral Associate
- Yale University (2007)
- MD
- Marmara University (2000)
Research
Overview
My major research interests include the identification of genetic bases of human diseases affecting the structure and function of the nervous system, and elucidation of underlying disrupted biological processes using multi-omic approaches and patient-derived 2D and 3D induced neuronal systems with a special focus on cerebral cortical malformations, schizophrenia, early-onset neurodegenerative syndromes and migraine. I also work on developing high-throughput omics approaches for early detection and profiling of brain tumors.
Medical Research Interests
Cerebrovascular Disorders; Circulating Tumor DNA; Genomic Medicine; Genomics; Human Genetics; Malformations of Cortical Development; Migraine Disorders; Multiomics; Neurodegenerative Diseases; Schizophrenia, Childhood
ORCID
0000-0002-7313-7652
Research at a Glance
Yale Co-Authors
Frequent collaborators of Kaya Bilguvar's published research.
Publications Timeline
A big-picture view of Kaya Bilguvar's research output by year.
Research Interests
Research topics Kaya Bilguvar is interested in exploring.
Murat Günel, MD, FACS, FAHA, FAANS
Katsuhito Yasuno, PhD
Zeynep Erson Omay, PhD
Adife Gulhan Ercan-Sencicek, MSc, MS, PhD
Ketu Mishra-Gorur, MSc, MS, PhD
Francesc Lopez-Giraldez, PhD
176Publications
22,436Citations
Genomics
Neurodegenerative Diseases
Publications
2025
Exome-sequencing of Turkish Families with Multiple Sclerosis: Low Frequency and Rare Variant Contributions into Susceptibility (P10-1.002)
Büyükgöl F, Gürdamar B, Bülbül A, Sezerman O, Everest E, Voyvoda U, Reda M, Çetin Ö, Tuncer M, Karaman B, Tasdelen B, Demir C, Boz C, Uzunköprü C, Uncu G, Gumus H, Efendi H, Yetkin M, Tecellioglu M, Seferoglu M, Kurtuncu M, Terzi M, Mutluer M, Yüceyar A, Turan Ö, Ethemoglu Ö, Karabudak R, Bunul S, Sen S, Demir S, Duman T, Gunduz T, Aluclu U, Beckmann Y, Bilguvar K, Gulec B, Tutuncu M, Uygunoglu U, Saip S, Siva A, Turanli E. Exome-sequencing of Turkish Families with Multiple Sclerosis: Low Frequency and Rare Variant Contributions into Susceptibility (P10-1.002). Neurology 2025, 104 DOI: 10.1212/wnl.0000000000210979.Peer-Reviewed Original ResearchEffects of essential tremor on longevity and mortality rates in families
Onat O, Ustunel F, Akbostanci C, Doganyigit K, Sen M, Gunaydin E, Bilguvar K, Akbostanci M. Effects of essential tremor on longevity and mortality rates in families. PLOS ONE 2025, 20: e0320422. PMID: 40193366, PMCID: PMC11975089, DOI: 10.1371/journal.pone.0320422.Peer-Reviewed Original ResearchAltmetricMeSH Keywords and ConceptsConceptsHazard ratioET individualsReduced risk of mortalityAssociated with increased longevityRisk of mortalityEssential tremorMedian ageComprehensive statistical methodsReduced riskAging-related diseasesRegression modelsParticipantsMortality rateAnalyzed dataAction tremorNeurodegenerative disordersMovement disordersDeceased individualsExome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families
Büyükgöl F, Gürdamar B, Aluçlu M, Beckmann Y, Bilguvar K, Boz C, Bülbül A, Bünül S, Çetin Ö, Demir C, Demir S, Duman T, Efendi H, Ekmekçi Ö, Ertetik U, Ethemoğlu Ö, Everest E, Gümüş H, Gündüz T, Karabudak R, Karaman B, Kürtüncü M, Mutluer M, Reda M, Saip S, Seferoğlu M, Sever E, Sezerman O, Şen S, Taşdelen B, Tecellioğlu M, Terzi M, Tuncer A, Turan Ö, Tütüncü M, Uncu G, Uygunoğlu U, Uzunköprü C, Voyvoda U, Yetkin M, Yüceyar N, Siva A, Turanlı E. Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. Scientific Reports 2025, 15: 11682. PMID: 40188234, PMCID: PMC11972333, DOI: 10.1038/s41598-025-94691-x.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsSegregation analysisExome sequencingGene-based burden testsGene-based burden analysisRare coding variantsVariants associated with MSWhole-exome sequencingPathway enrichment analysisMultiplex MS familiesHuman leukocyte antigen lociContribution of low-frequencyAdmixed populationsBurden testsHemidesmosome assemblyMultiple sclerosis susceptibilityAllele frequenciesAntigen lociEnrichment analysisBurden analysisMS familiesGenesTurkish familyExtracellular matrixProgressive neurodegenerationITPR1 geneGenomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Sierant M, Jin S, Bilguvar K, Morton S, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Sedore S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter G, Newburger J, Seidman J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Chung W, Gelb B, Seidman C, Brueckner M, Lifton R. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2420343122. PMID: 40127276, PMCID: PMC12002227, DOI: 10.1073/pnas.2420343122.Peer-Reviewed Original ResearchAltmetricMeSH Keywords and ConceptsConceptsCongenital heart disease genesCongenital heart diseaseDamaging variantsMissense variantsAnalyzing de novo mutationsCHD probandsEpidermal growth factor (EGF)-like domainsNeurodevelopmental delayLoss of function variantsParent-offspring triosSyndromic congenital heart diseaseHeart disease genesDisease genesGenomic analysisCongenital heart disease subtypesAssociated with neurodevelopmental delayTetralogy of FallotFunctional variantsIncomplete penetranceCHD phenotypesGenesAssociated with developmentGenetic testingMolecular diagnosticsExtracardiac abnormalitiesSpreading depolarization triggers pro- and anti-inflammatory signalling: a potential link to headache
Kaya Z, Belder N, Sever-Bahçekapılı M, Erdener Ş, Dönmez-Demir B, Bağcı C, Köroğlu M, Bilguvar K, Dalkara T. Spreading depolarization triggers pro- and anti-inflammatory signalling: a potential link to headache. Brain 2025, awaf015. PMID: 39823578, DOI: 10.1093/brain/awaf015.Peer-Reviewed Original ResearchAltmetricConceptsCortical spreading depolarizationCaspase-1 activationPost-CSDInflammatory signalingCell-specific transcriptomic dataMigraine headacheHMGB1 releaseCell-specific transcriptomesCaspase-1Inflammatory responseCell-specific activityUpregulation of genesPro-inflammatory transcriptsTranscriptome dataPro-inflammatory stimuliResolution of inflammationCo-immunoprecipitationTranscriptome analysisTranscriptomic responseFRET analysisCNS cell typesAnti-inflammatory responseAnti-inflammatory signalsAnti-inflammatory profileTranscriptional changesA Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization
Koroglu M, Bilguvar K. A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization. Methods In Molecular Biology 2025, 2889: 207-233. PMID: 39745615, DOI: 10.1007/978-1-0716-4322-8_15.Peer-Reviewed Original ResearchAltmetricMeSH Keywords and ConceptsConceptsGenomic dataHigh-throughput sequencing technologyGenomic data analysisField of genomicsNext-generation sequencingVariant callingNGS technologiesSequencing technologiesBioinformatics approachComprehensive computational approachSequenceComputational approachCancer researchGenomeTranscriptomeBioinformaticsNGSProteomicsNext-generationDNARNAEfficient sequenceAnnotationVariantsFragmentsDysregulation of mTOR signalling is a converging mechanism in lissencephaly
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Henegariu O, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Miyagishima D, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay E, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan A, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature 2025, 638: 172-181. PMID: 39743596, PMCID: PMC11798849, DOI: 10.1038/s41586-024-08341-9.Peer-Reviewed Original ResearchCitationsAltmetricConceptsP53-induced death domain protein 1Miller-Dieker lissencephaly syndromeMolecular mechanismsDysregulation of protein translationDysregulation of mTOR signalingDomain protein 1Activity of mTOR complexesMTOR pathwayRelevant molecular mechanismsProtein translationHuman lissencephalyClinically relevant molecular mechanismsRecessive mutationsRare mutationsMiller-DiekerGene expressionCerebral cortex developmentMTOR complexesSpectrum disorderMolecular defectsMTOR signalingCongenital brain malformationsProtein 1GeneticsAssociated with epilepsy
2024
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Aynekin B, Samur B, Gumus U, Bilguvar K, Gulec A, Efthymiou S, Gumus H, Caglayan A, Per H. Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33. Molecular Syndromology 2024, 1-10. DOI: 10.1159/000543107.Peer-Reviewed Original ResearchConceptsMolar tooth signRare autosomal recessive disorderOptic nerve atrophySevere renal diseaseAutosomal recessive disorderHomozygous nonsense mutationWhole-exome sequencingNerve atrophyRenal atrophyDisease-causing genesClinical spectrumClinical featuresDysmorphic featuresClinical manifestationsPhenotypic expansionDiagnostic awarenessHomozygous mutationJoubert syndromePathogenic variantsPatient's seizuresRecessive disorderRenal diseaseNonsense mutationDevelopmental delayKidney failureExploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants
Celebiler H, Barak T, K. D, Kaya I, Erbilgin S, Uytun M, Oztop D, Gumus H, Per H, Ceylaner S, Bozkurt I, Kontaridis M, Bilguvar K, Akhun N, Kilincaslan A, Caglayan A, Erson-Omay E, Gunel M, Ercan-Sencicek A. Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants. Molecular Syndromology 2024, 1-12. DOI: 10.1159/000542367.Peer-Reviewed Original ResearchAltmetricConceptsWhole-exome sequencingStandard Sanger sequencingMucopolysaccharidosis type IIIBExome sequencingProgressive neurodegenerative disorderConsanguineous familySanger sequencingNAGLU genePhenotypic characteristicsMagnetic resonance imagingEnzymatic assayNeurodegenerative disordersAffected individualsLoss of activityNeurodegenerative symptomsAutosomal recessive lysosomal disorderCellular mechanismsVariantsLysosomal disorderEnzymeNormal MRI findingsSequenceMPS IIIBMRI findingsType IIIBRapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey
Yilmaz B, Akgun-Dogan O, Ozdemir O, Yuksel B, Ng O, Bilguvar K, Ay B, Ozkose G, Aydin E, Yigit A, Bulut A, Esen F, Beken S, Aktas S, Demirel A, Arcagok B, Kazanci E, Bingol İ, Umur O, Sik G, Isik U, Ersoy M, Korkmaz A, Citak A, Mardinoglu A, Ozbek U, Alanay Y. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey. Frontiers In Pediatrics 2024, 12: 1412880. PMID: 39026936, PMCID: PMC11254770, DOI: 10.3389/fped.2024.1412880.Peer-Reviewed Original ResearchCitationsAltmetricConceptsRapid genome sequencingHospital settingReducing unnecessary interventionsImprove patient careCost-effective approach to diagnosisTurkish healthcare systemClinical managementNext-generation sequencingPatient careHealthcare systemCritically ill infantsInclusion criteriaPediatric ICU patientsDelivery of resultsInfant morbidityMendelian conditionsDiagnostic odysseyApproach to diagnosisGenetic conditionsPilot studyUnnecessary interventionsTen infantsGenome sequenceDiagnostic yieldCongenital abnormalities
Clinical Trials
Current Trials
Genetic and molecular studies of developmental neuropsychiatric disorders
HIC ID0301024156RoleSub InvestigatorPrimary Completion Date12/31/2025Recruiting ParticipantsGenderBoth
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