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 Research
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 ResearchManagement 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 ResearchDysregulation 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 ResearchInvestigation 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 ResearchClinical 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 ResearchAbdominal PainAdolescentAdultAMP-Activated Protein Kinase KinasesChildFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMultiplex Polymerase Chain ReactionMutationPeutz-Jeghers SyndromePhenotypeProtein Serine-Threonine KinasesYoung Adult
2023
Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome
Cinleti T, Sarıkaya Uzan G, Bürçe B, Küçümen Y, Yalçın H, Gürsoy S, Yiş U, Çağlayan A, Giray Bozkaya Ö. Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome. Neurology Asia 2023, 28: 1085-1094. DOI: 10.54029/2023htk.Peer-Reviewed Original Research