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 detailsHande Kaymakcalan Celebiler
Assistant Professor AdjunctDownloadHi-Res Photo
About
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Titles
Assistant Professor Adjunct
Appointments
Neurosurgery
Assistant Professor AdjunctPrimary
Other Departments & Organizations
Education & Training
- Resident
- Yale University (2009)
- Resident
- Cook County Hospital (2003)
- MD
- Marmara University School of Medicine, Medicine (1999)
Research
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Overview
PTEN Hamartoma tumor syndrome ( PHTS) in pediatric patients
Creation of Turkish PHTS patient registry
Genetics of overgrowth disorders with intellectual disability ( OGID)
Genetics of congenital heart disease
Genetics of autism spectrum disorders
Medical Research Interests
Autism Spectrum Disorder; Heart Defects, Congenital; Human Genetics; Intellectual Disability
ORCID
0000-0001-7736-7634
Research at a Glance
Yale Co-Authors
Frequent collaborators of Hande Kaymakcalan Celebiler's published research.
Publications Timeline
A big-picture view of Hande Kaymakcalan Celebiler's research output by year.
Research Interests
Research topics Hande Kaymakcalan Celebiler is interested in exploring.
Kaya Bilguvar, MD, PhD
Ahmet Caglayan
Murat Günel, MD, FACS, FAHA, FAANS
Adife Gulhan Ercan-Sencicek, MSc, MS, PhD
Katsuhito Yasuno, PhD
Zeynep Erson Omay, PhD
37Publications
2,157Citations
Intellectual Disability
Autism Spectrum Disorder
Heart Defects, Congenital
Publications
2025
Rare Diseases and Congenital Heart Diseases: A Call for Genetic Insight
Çelebiler H. Rare Diseases and Congenital Heart Diseases: A Call for Genetic Insight. The Anatolian Journal Of Cardiology 2025, 29: 269-270. PMID: 40151841, PMCID: PMC12053308, DOI: 10.14744/anatoljcardiol.2025.5297.Peer-Reviewed Original ResearchA Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2
Yeter B, Sezgin B, Dilek Y, Demirkol Y, Selamioğlu A, Kırmızıbekmez H, Çelebiler H, Akçapınar G. A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2. Molecular Syndromology 2025, 16: 507-516. PMID: 40331102, PMCID: PMC12052373, DOI: 10.1159/000545570.Peer-Reviewed Original ResearchConceptsProtein modelsEpidermal growth factor-like repeatsShort statureHomozygous missense variantConsanguineous Turkish familyFacial dysmorphismBiallelic pathogenic variantsSkeletal anomaliesMissense variantsTGF-b signaling pathwayExome sequencingPrenatal growth retardationProtein stabilityPairs of ribsHigh nasal bridgePatients to datePathogenic variantsSignaling pathwayDisulfide bridgesRegulatory roleTurkish familyProteinDental anomaliesPATIENTS DIAGNOSEDArched eyebrowsDysregulation 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
Exploring 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 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 IIIb
2023
Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype
Edizadeh M, Kaymakcalan H, Valilou S, Şahin Y. Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype. American Journal Of Medical Genetics Part A 2023, 191: 1465-1469. PMID: 36757286, DOI: 10.1002/ajmg.a.63146.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsExome sequencingPathogenic variantsCo-segregation studiesE3 ubiquitin protein ligaseUbiquitin-protein ligaseSplice site variantIn silico algorithmsBiallelic pathogenic variantsSite variantsUBR7Co-segregationSanger sequencingAutosomal recessive disorderBioinformatics prediction analysisDysmorphic featuresVariation c.Turkish familyHeterozygous statePathogenic effectsRecessive disorderCongenital heart defectsVariantsSequenceHeart defectsGenital anomalies
2022
Investigation of the lawsuits regarding down syndrome
KAYMAKCALAN H. Investigation of the lawsuits regarding down syndrome. Marmara Medical Journal 2022 DOI: 10.5472/marumj.1186743.Peer-Reviewed Original ResearchInvestigation of the lawsuits regarding Down syndrome
KAYMAKCALAN H. Investigation of the lawsuits regarding Down syndrome. Marmara Medical Journal 2022, 35: 293-296. DOI: 10.5472/marumj.1195921.Peer-Reviewed Original ResearchClinical, demographic and genetic features of patients with congenital heart disease : A single center experience
KAYMAKCALAN H, YALCINKAYA L, NIKEREL E, YALCIN Y, DONG W, Sencıcek A. Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience. Marmara Medical Journal 2022, 35: 159-163. DOI: 10.5472/marumj.1120570.Peer-Reviewed Original ResearchCitationsMutation spectrum of congenital heart disease in a consanguineous Turkish population
Dong W, Kaymakcalan H, Jin SC, Diab NS, Tanıdır C, Yalcin ASY, Ercan‐Sencicek A, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M. Mutation spectrum of congenital heart disease in a consanguineous Turkish population. Molecular Genetics & Genomic Medicine 2022, 10: e1944. PMID: 35481623, PMCID: PMC9184665, DOI: 10.1002/mgg3.1944.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsWhole-exome sequencingLaterality defectsUnique genetic architectureCongenital heart diseaseConsanguineous familyGenetic architectureCausal genesCHD genesGenome analysisHomozygous variantGenetic landscapeGenetic lesionsGenomic alterationsHeart diseaseConsanguineous populationFunction variantsRecessive variantsCHD probandsGenesType of CHDMutation spectrumStructural congenital heart diseaseVariantsCHD subjectsAdditional patientsA rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome
Kaymakçalan H, Ercan-Şençiçek AG, Cebeci AN, Dong W, Yalçın A. A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome. The Anatolian Journal Of Cardiology 2022, 26: 149-150. PMID: 35190366, PMCID: PMC8878915, DOI: 10.5152/anatoljcardiol.2021.554.Peer-Reviewed Case Reports and Technical NotesCitationsAltmetric
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