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 pathways
2025
Rare 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 IIIbA Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability
Sönmez B, Kocabey M, Polat A, Gürsoy S, Karaoğlu P, Horvath R, Schon K, Ülgenalp A, Yiş U, Çağlayan A, Bozkaya Ö. A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability. Molecular Syndromology 2024, 16: 61-68. PMID: 39911178, PMCID: PMC11793885, DOI: 10.1159/000540325.Peer-Reviewed Original ResearchSplice-site variantsNemaline myopathyBiallelic pathogenic variantsMolecular genetic testingSplice siteMuscle weaknessSpectrum of genotypesPathogenic variantsMuscle biopsy resultsPhenotypic variabilityDiagnosis of patientsKLHL40 geneVariable phenotypeGenetic testingBiopsy resultsNemaline bodiesFamily membersJoint contracturesMuscle diseasePhenotypeMuscle fibersVariantsHypotoniaMuscleInvestigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
Ozkalayci H, Bora E, Cankaya T, Kocabey M, Zubari N, Yis U, Giray Bozkaya O, Turan S, Pekcanlar Akay A, Caglayan A, Ulgenalp A. Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients. Neurogenetics 2024, 25: 201-213. PMID: 38850354, DOI: 10.1007/s10048-024-00765-9.Peer-Reviewed Original ResearchConceptsMultiplex ligation-dependent probe amplificationMultiplex ligation-dependent probe amplification analysisDuchenne muscular dystrophyBecker muscular dystrophyMultiplex PCRNonsense mutationMuscular dystrophyDuchenne muscular dystrophy patientsLigation-dependent probe amplificationDystrophin gene mutationsExon skipping therapyReading frame ruleRate of deletionGene therapy researchPathogenic/likely pathogenic variantsSingle exon deletionsMultiplex PCR groupReading frame hypothesisD/BMD familiesGonosomal mosaicismSkipping therapyGermline mosaicismProbe amplificationGonadal mosaicismGene mutationsClinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome
Department of Internal Medicine D, Aslan P, Çağlayan A, Department of Medical Genetics D, Department of Molecular Medicine I, Bora E, Koç A, Yucel H, Ülgenalp A, Öztürk Y, Division of Pediatric Gastroenterology D, Şeker G, Akarsu M, Division of Gastroenterology D. Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome. The Turkish Journal Of Gastroenterology 2024, 35: 374-384. PMID: 39115133, PMCID: PMC11181252, DOI: 10.5152/tjg.2024.23262.Peer-Reviewed Original ResearchMeSH KeywordsAbdominal PainAdolescentAdultAMP-Activated Protein Kinase KinasesChildFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMultiplex Polymerase Chain ReactionMutationPeutz-Jeghers SyndromePhenotypeProtein Serine-Threonine KinasesYoung AdultConceptsPeutz-Jeghers syndromeMultiplex ligation-dependent probe amplificationCancer riskNext-generation sequencingPeutz-JeghersGenotype-phenotype relationshipsPeutz-Jeghers syndrome patientsElevated cancer riskMultiplex ligation-dependent probe amplification studySTK11 geneDiagnostic rateMultiplex ligation-dependent probe amplification methodLigation-dependent probe amplificationHereditary cancerCases of malignancyGenotype-phenotype correlationHamartomatous polypsDysplastic polypsAbdominal painSTK11 mutationsGenetic variantsCase seriesMucocutaneous lesionsProbe amplificationNovel mutations