Adjunct Faculty
Adjunct faculty typically have an academic or research appointment at another institution and contribute or collaborate with one or more School of Medicine faculty members or programs.
Adjunct rank detailsKaya Bilguvar, MD, PhD
he/him/his
Associate Professor AdjunctDownloadHi-Res Photo
About
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Titles
Associate Professor Adjunct
Appointments
Neurosurgery
Associate Professor AdjunctPrimary
Other Departments & Organizations
- All Institutions
- 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
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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
Ahmet Caglayan
Zeynep Erson Omay, PhD
Adife Gulhan Ercan-Sencicek, MSc, MS, PhD
Ketu Mishra-Gorur, MSc, MS, PhD
179Publications
24,141Citations
Genomics
Neurodegenerative Diseases
Publications
2026
Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report.
Aydin E, Bulut A, Yildiz B, Ozonur U, Ozdemir O, Bilguvar K, Ng O, Tatli B, Akgun-Dogan O, Alanay Y. Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report. Journal Of Child Neurology 2026, 8830738261422860. PMID: 41834381, DOI: 10.1177/08830738261422860.Peer-Reviewed Original ResearchConceptsPeriodic reanalysisReanalysis of genomic dataRare disease diagnosticsTrio-based whole-exome sequencingWhole-exome sequencingCongenital heart defectsVariant interpretationGenomic dataDrug-resistant epilepsyExome sequencingGlobal developmental delayGenetic counselingHeart defectsPhenotypic spectrumCardiac phenotypeOptic atrophyCraniofacial dysmorphismFemale patientsClinical managementPatient presentationRare diseaseMolecular landscapeDevelopmental delayUndiagnosed casesClinical utilityUnmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches
Yigit A, Akgun-Dogan O, Ozkeserli Z, Akcapınar G, Ayta S, Gencpinar P, Genc H, Kutlubay B, Kara B, Sozen H, Agaoglu N, Ozdemir O, Bilguvar K, Ozbek U. Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches. Frontiers In Neurology 2026, 17: 1742186. PMID: 41835067, PMCID: PMC12979860, DOI: 10.3389/fneur.2026.1742186.Peer-Reviewed Original ResearchAltmetricConceptsCerebral palsyEvidence of genetic contributionGenetic architectureWhole-genome sequencing dataCP etiologyPerinatal risk factorsIntegrative genomics approachSystematic genomic analysisGenomic testingGenetic counselingRisk factorsGenome sequenceGenomic approachesSequence dataGenomic analysisMotor function deficitsGenetic etiologyPalsyWhole exomeVariant filteringGenetic heterogeneityGenetic contributionGenetic factorsPathogenic variantsRe-phenotypingDistinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas
Li C, Erson-Omay E, Koksal Y, Unal E, Kara B, Bilguvar K, Paksoy Y, Durmus N, Kurtsoy A, Per H, Østergaard J, Günel M, Çağlayan A. Distinct mutational signature and clonal evolution in constitutional mismatch repair deficiency-associated high-grade gliomas. IScience 2026, 29: 115029. PMID: 41797895, PMCID: PMC12964222, DOI: 10.1016/j.isci.2026.115029.Peer-Reviewed Original ResearchConceptsHigh-grade gliomasClonal evolutionClinical outcomesConstitutional mismatch repair deficiencyMutational signaturesClonal evolution modelGermline biallelic mutationsCancer-predisposing syndromeTumor recurrenceMismatch repair deficiencyPoor prognosisPatient prognosisBiallelic mutationsTumor evolutionRepair deficiencyPrognosisEarly onsetGenomic landscapeFounding cloneTumorPatientsGlioma
2025
Comparing Surgical Treatment Options for Intracranial Arachnoid Cysts; Radiological, Clinical and Histopathological Outcomes of the Operated Patients
Güzel E, Oktay K, Adamhasan F, Sarı İ, Ökten A, Bilguvar K, Demir M, Guzel A. Comparing Surgical Treatment Options for Intracranial Arachnoid Cysts; Radiological, Clinical and Histopathological Outcomes of the Operated Patients. Cukurova Anestezi Ve Cerrahi Bilimler Dergisi 2025, 8: 507-513. DOI: 10.36516/jocass.1818403.Peer-Reviewed Original ResearchConceptsResolution of symptomsSurgical treatment optionsArachnoid cystFenestration groupPatient ageCyst volumeHistopathological outcomesTreatment optionsTissue edemaMass effectTreatment of arachnoid cystsPostoperative cyst volumeIntracranial arachnoid cystsShunt applicationStatistically significant differenceBasal lamina thicknessOperated patientsComplication ratePostoperative reductionShunt groupCyst fenestrationCystoperitoneal shuntYounger patientsAdult patientsSurgical interventionSubgroup of meningiomas involving FOS and FOSB gene fusions
Yalcin K, Alanya H, Gultekin B, Samper Figuera D, Barak T, Miyagishima D, Youngblood M, Hjerthen M, Brooks A, Samuel Lopez N, O’Brien J, Chavez M, Dincer A, Wu H, Omay S, Yasuno K, Bilguvar K, Ercan-Sencicek A, Mishra-Gorur K, McGuone D, Moliterno J, Gunel M, Erson-Omay E. Subgroup of meningiomas involving FOS and FOSB gene fusions. Nature Communications 2025, 16: 10532. PMID: 41298363, PMCID: PMC12657970, DOI: 10.1038/s41467-025-65549-7.Peer-Reviewed Original ResearchAltmetricMeSH Keywords and ConceptsConceptsAP-1 target genesRecurrent genomic rearrangementsGene expression patternsGenomic rearrangementsChromosomal alterationsGene fusionsMolecular classificationGenetic driversTarget genesExpression patternsGenesFosB geneLow-grade behaviorTreated with surgerySubgroup of meningiomasClassification of meningiomasProtein levelsDriver mutationsTargeted treatment strategiesCentral nervous systemPrimary tumorBenign subtypeTargeted therapyClinical featuresMolecular subgroupsExome-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 ResearchCitationsAltmetricMeSH 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 ResearchCitationsMeSH 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 ResearchCitationsAltmetricMeSH 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, 148: 2522-2536. PMID: 39823578, PMCID: PMC12378585, DOI: 10.1093/brain/awaf015.Peer-Reviewed Original ResearchCitationsAltmetricConceptsCortical 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 changes
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