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 detailsAhmet Caglayan
Assistant Professor AdjunctAbout
Research
Publications
2026
Reduction in peripheral expression of the TMLHE gene in Turkish youth with autism spectrum disorder
Özücer İ, Alnak A, Akköprü H, Karadoğan Z, Çağlayan A, Selman S, Coskun M. Reduction in peripheral expression of the TMLHE gene in Turkish youth with autism spectrum disorder. Gene Reports 2026, 42: 102391. DOI: 10.1016/j.genrep.2025.102391.Peer-Reviewed Original ResearchAutism spectrum disorderCase-control investigationSpectrum disorderAutism spectrum disorder groupClinical sample of youthSeverity of autism spectrum disorderAberrant Behavior ChecklistChildhood Autism Rating ScaleAutism spectrum disorder phenotypeGene mutationsSample of youthEtiology of autism spectrum disorderClinical samplesPeripheral blood samplesRisk of autism spectrum disorderBehavior ChecklistObject useRating ScaleExpression levelsGene expressionPeripheral expressionListener responsesAssociated symptomsTurkish youthBlood samplesClinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease
Kekilli S, Pekuz O, Kekilli A, Binicier H, Uyar S, Ozkan E, Gülten Z, Aydogan A, Akarsu M, Arslan N, Ulgenalp A, Caglayan A. Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease. Human Molecular Genetics 2026, 35: ddag008. PMID: 41790749, DOI: 10.1093/hmg/ddag008.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingAmerican College of Medical GeneticsUtilization of whole exome sequencingPathogenicity prediction toolsDisease-Associated VariantsPathogenic/likely pathogenic variantsClinical exome sequencingIdiopathic liver diseaseIn silico analysisPathway enrichment analysisOlfactory signaling pathwayGenomic insightsRare genetic causeIn silico approachCandidate genesChronic liver diseaseMedical GeneticsExome sequencingAmerican CollegeSilico analysisLiver diseasePathogenic variantsEnrichment analysisDAVID databaseBiological pathwaysDistinct 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 ResearchHigh-grade gliomasClonal evolutionClinical outcomesConstitutional mismatch repair deficiencyMutational signaturesClonal evolution modelGermline biallelic mutationsCancer-predisposing syndromeTumor recurrenceMismatch repair deficiencyPoor prognosisPatient prognosisBiallelic mutationsTumor evolutionRepair deficiencyPrognosisEarly onsetGenomic landscapeFounding cloneTumorPatientsGliomaUnilateral Yasunari nodule-like appearance in a patient without neurofibromatosis type 1
Ali H, Ahmadova N, Fatihoglu Ö, Kocabey M, Caglayan A, Saatci A. Unilateral Yasunari nodule-like appearance in a patient without neurofibromatosis type 1. European Journal Of Case Reports In Internal Medicine 2026, 13: 006071. PMID: 41668837, PMCID: PMC12885585, DOI: 10.12890/2026_006071.Peer-Reviewed Original ResearchNeurofibromatosis type 1Right eyeDiagnosis of neurofibromatosis type ISpectral-domain optical coherence tomographyBest-corrected visual acuityNear-infrared reflectance imagingType 1History of floatersSlit-lamp examinationBenign incidental findingOptical coherence tomographyNeurofibromatosis type IChoroidal lesionsChoroidal nodulesIris neviSlit lampVisual acuityLeft eyeNormal eyesImaging findingsMultiple lesionsCoherence tomographyPhysical examinationIncidental findingSomatic mosaicism
2025
Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.
Keles Z, Fatihoglu O, Ayhan Z, Saatci A, Caglayan A, Ulgenalp A. Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort. Molecular Vision 2025, 31: 502-513. PMID: 41867366, PMCID: PMC13002549.Peer-Reviewed Original ResearchConceptsInherited Retinal DystrophiesWhole-exome sequencingPatient phenotypesRetinal dystrophyRare presentationDiagnostic powerPower of whole-exome sequencingPersonalized treatment strategiesClinically heterogeneous groupInheritance patternClinically relevant variantsTurkish cohortGene therapyUsher syndromeTreatment strategiesSyndrome phenotypeGenetic diagnosisEarly diagnosisPatientsGenetic findingsHeterogeneous groupClinical practiceRare variantsGenetic basisRelevant variantsRare Genetic Variants of Cell Adhesion Molecules in Transgender Men Suggest a Potential Role in Gender Dysphoria
Cura D, Çankaya T, Clark Ö, Aydin L, Çağlayan A, Ülgenalp A. Rare Genetic Variants of Cell Adhesion Molecules in Transgender Men Suggest a Potential Role in Gender Dysphoria. Sexual Development 2025, 19: 56-63. PMID: 41208545, PMCID: PMC12674652, DOI: 10.1159/000549011.Peer-Reviewed Original ResearchConceptsRare genetic variantsGene listsGenetic componentPlasma membrane adhesion moleculesSexual differentiationCell adhesionHomophilic cell adhesionInteraction network analysisCell adhesion genesBrain sexual differentiationFunctional enrichment analysisMembrane adhesion moleculesAdhesion moleculesProtein classificationAdhesion genesSalient genesCell adhesion moleculesFunctional enrichmentEnrichment analysisBiological processesGenesRare variantsNeurodevelopmental pathwaysVariantsTransgender menManagement of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye
Durmus S, Yucesan E, Aktug S, Utz B, Caglayan A, Gencpinar P, Günay C, Oktay Y, Yildirim R, Yigit A, Ozbek U. Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye. Frontiers In Public Health 2025, 12: 1501942. PMID: 39911789, PMCID: PMC11795313, DOI: 10.3389/fpubh.2024.1501942.Peer-Reviewed Original ResearchConceptsHealthcare professionalsRare disease researchUndiagnosed diseaseLack of interdisciplinary collaborationNational online surveyManagement of rare diseasesComprehensive national action planFollow-up processInadequate supportRobust surveillance systemFinancial burdenHealthcareProfessionalsDaily experiencesDisease researchSurveillance systemRare diseaseSystem improvementOnline surveyAction planExperience of researchNational Action PlanParticipantsInterdisciplinary collaborationStakeholder groupsDysregulation 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 ResearchP53-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, 16: 411-420. PMID: 41230208, PMCID: PMC12603874, DOI: 10.1159/000543107.Peer-Reviewed Original ResearchMolar 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, 16: 342-353. PMID: 40771184, PMCID: PMC12324730, DOI: 10.1159/000542367.Peer-Reviewed Original ResearchWhole-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 IIIb