Publications & Works

Publication Network
Journal articles indexed in SCI, SSCI, and AHCI

Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.

Zhang C., Liang D., Ercan-Sencicek A. G., Bulut A. S., Cortes J., Cheng I. Q., et al.
Nature , vol.638, no.8049, pp.172-181, 2025 (SCI-Expanded) identifier identifier

A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

Sönmeza B., KOCABEY M., POLAT A. İ., GÜRSOY S., Karaoǧlu P., Horvath R., et al.
Molecular Syndromology , vol.16, no.1, pp.61-68, 2025 (SCI-Expanded) identifier

Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye

Durmus S., Yucesan E., Aktug S., Utz B., Çağlayan A. O., Gencpinar P., et al.
FRONTIERS IN PUBLIC HEALTH , vol.12, no.1501942, pp.1-11, 2025 (SCI-Expanded)

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33

Aynekin B., Samur B. M., Ozgul Gumus U. G., Bilguvar K., Gulec A., Efthymiou S., et al.
MOLECULAR SYNDROMOLOGY , vol.1, no.1, pp.1-14, 2024 (SCI-Expanded)

Exploring Molecular and Phenotypic Characteristics of <i>NAGLU</i> Arg234Gly and Asp312Asn Variants

KAYMAKÇALAN ÇELEBİLER H., Barak T., Rai D. K., KAYA İ., Erbilgin S., ÇIKILI UYTUN M., et al.
MOLECULAR SYNDROMOLOGY , 2024 (SCI-Expanded) identifier identifier

Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.

Ozkalayci H., Bora E., Cankaya T., Kocabey M., Zubari N. C., Yis U., et al.
Neurogenetics , vol.25, no.3, pp.201-213, 2024 (SCI-Expanded) identifier identifier

Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome

Aslan P. G., ÇAĞLAYAN A. O., BORA E., KOÇ A., YÜCEL H., ÜLGENALP A., et al.
Turkish Journal of Gastroenterology , vol.35, no.5, pp.374-384, 2024 (SCI-Expanded) identifier

Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G&gt;A) in Warburg Micro syndrome

Cinleti T., Sarıkaya Uzan G., Bürçe B., Küçümen Y., Yalçın H. Y., Gürsoy S., et al.
NEUROLOGY ASIA , vol.28, no.4, pp.1085-1094, 2023 (SCI-Expanded) Creative Commons License

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey

Özsoy Ö., Cinleti T., Günay Ç., Sarıkaya Uzan G., Giray Bozkaya Ö., Çağlayan A. O., et al.
Acta Neurologica Belgica , vol.123, no.6, pp.2325-2335, 2023 (SCI-Expanded) Creative Commons License identifier identifier

Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center

Kocabey M., Özkalaycı H., Çankaya T., Yılmaz Uzman C., Çağlayan A. O., Ülgenalp A., et al.
International Journal of Developmental Neuroscience , vol.83, no.5, pp.456-465, 2023 (SCI-Expanded) Creative Commons License identifier identifier

MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in <i>SAMD9</i>

Cinleti T., Gülen A., Sönmez B., Gürsoy S., Boyacioğlu Ö. K., Asilsoy S., et al.
CLINICAL DYSMORPHOLOGY , vol.32, no.3, pp.133-138, 2023 (SCI-Expanded) Sustainable Development identifier identifier identifier

Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families

Bora E., Bulut A. Y., Çankaya T., Cinleti T., Genç H. Z., Özcan E. E., et al.
MOLECULAR SYNDROMOLOGY , 2023 (SCI-Expanded) Creative Commons License identifier

Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation.

Kocabey M., Cankaya T., Bayram M. T., Ulgenalp A., Caglayan A. O., Giray Bozkaya Ö.
Clinical and experimental rheumatology , 2023 (SCI-Expanded) identifier

An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.

Yüksel Ülker A., Uludağ Alkaya D., Çağlayan A. O., Usluer E., Aykut A., Aslanger A., et al.
American journal of medical genetics. Part A , 2023 (SCI-Expanded) identifier

Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Answers

Bayram M., Yildiz G., Cağlayan A. O., Ulgenalp A., Unlu S. M., Soylu A., et al.
PEDIATRIC NEPHROLOGY , vol.38, no.1, pp.115-117, 2023 (SCI-Expanded) Sustainable Development identifier identifier identifier

Unexpected finding in kidney biopsy of a child with nephrotic proteinuria: Questions

Bayram M., Yildiz G., Cağlayan A. O., Ulgenalp A., Unlu S. M., Soylu A., et al.
PEDIATRIC NEPHROLOGY , no.1, pp.113-114, 2023 (SCI-Expanded) identifier identifier

Hemoglobin A(1C) can differentiate subjects with GCK mutations among patients suspected to have MODY.

Yılmaz Uzman C., Erbaş İ. M., Giray Bozkaya Ö., Paketçi A., Çağlayan A. O., Abacı A., et al.
Journal of pediatric endocrinology & metabolism : JPEM , vol.35, no.12, pp.1528-1536, 2022 (SCI-Expanded) Sustainable Development identifier identifier

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Laugwitz L., Seibt A., Herebian D., Peralta S., Kienzle I., Buchert R., et al.
Journal of medical genetics , vol.59, no.9, pp.878-887, 2022 (SCI-Expanded) Sustainable Development identifier identifier identifier

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

Caglayan A. O., Tuysuz B., Gül E., Alkaya D. U., Yalcinkaya C., Gleeson J. G., et al.
Journal of human genetics , vol.67, no.9, pp.553-556, 2022 (SCI-Expanded) identifier

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations

Bayram N., Bayram A. K., Per H., Gümüş H., Ozsaygili C., Dogan M. S., et al.
EUROPEAN JOURNAL OF OPHTHALMOLOGY , vol.32, no.5, 2022 (SCI-Expanded) identifier identifier identifier

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.

Öztürk S., Güleç A., Erdoğan M., Demir M., Canpolat M., Gümüş H., et al.
Pediatric neurology , vol.136, pp.43-49, 2022 (SCI-Expanded) identifier

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Dundar M., Fahrioglu U., Yildiz S. H., Bakir-Gungor B., Temel S. G., Akin H., et al.
FUNCTIONAL & INTEGRATIVE GENOMICS , vol.22, no.3, pp.291-315, 2022 (SCI-Expanded) identifier identifier identifier

Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer

Ozmen V., Çağlayan A. O., Yararbas K., Ordu C., Aktepe F., Ozmen T., et al.
ONCOLOGY LETTERS , vol.23, no.4, 2022 (SCI-Expanded) Creative Commons License Sustainable Development identifier

Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey

Bora E., Caglayan A. O., Koc A., Cankaya T., Ozkalayci H., Kocabey M., et al.
Cancer Genetics , vol.262-263, pp.118-133, 2022 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier identifier

Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.

Karakaya C., Çil A. P., Bilguvar K., Çakir T., Karalok M. H., Karabacak R. O., et al.
The journal of obstetrics and gynaecology research , 2022 (SCI-Expanded) identifier

Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.

Samur B. M., Gümüş G., Canpolat M., Gümüş H., Per H., Cağlayan A. O.
Clinical dysmorphology , 2022 (SCI-Expanded) identifier

Familial clustering of nasopharyngeal carcinoma in the family of an adolescent with nasopharyngeal carcinoma

Kara B., Ertan K., Düzova M., ÇAĞLAYAN A. O., Köksal Y.
Turkish Journal of Pediatrics , vol.64, no.6, pp.1130-1135, 2022 (SCI-Expanded) Creative Commons License identifier identifier

Cerebral developmental venous anomalies in children with mismatch repair deficiency.

Kara B., Paksoy Y., Çağlayan A. O., Seher N., Akbaş H., Köksal Y.
The Turkish journal of pediatrics , vol.64, no.6, pp.1106-1116, 2022 (SCI-Expanded) Creative Commons License identifier

Clinical Features, Treatment and Outcome of Childhood Glial Tumors.

Kara B., Ertan K., Karabagli P., Karabagli H., Yavas G., Caglayan A. O., et al.
Turkish neurosurgery , vol.32, pp.135-142, 2022 (SCI-Expanded) Creative Commons License identifier identifier

A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability.

Özmansur E. N., Pedük Y., Gümüş H., Çağlayan A. O., Per H.
Clinical dysmorphology , vol.31, pp.36-38, 2022 (SCI-Expanded) identifier identifier

Peripheral Expression of MACROD2 Gene Is Reduced Among a Sample of Turkish Children with Autism Spectrum Disorder

Alnak A., Ozucer I. K., ÇAĞLAYAN A. O., COŞKUN M.
PSYCHIATRY AND CLINICAL PSYCHOPHARMACOLOGY , vol.31, no.3, pp.261-269, 2021 (SCI-Expanded) identifier

<i>Biallelic ZNF335</i> mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.

ÇAĞLAYAN A. O., Yaghouti K., Kockaya T., Kemer D., ÇANKAYA T., Ameziane N., et al.
Journal of neurogenetics , vol.35, no.1, pp.23-28, 2021 (SCI-Expanded) identifier identifier identifier

METAP1mutation is a novel candidate for autosomal recessive intellectual disability

ÇAĞLAYAN A. O., Aktar F., Bilguvar K., Baranoski J. F., Akgumus G. T., Harmanci A. S., et al.
JOURNAL OF HUMAN GENETICS , vol.66, no.2, pp.215-218, 2021 (SCI-Expanded) identifier identifier identifier

Nasopharyngeal carcinoma in a child with Kartagener's syndrome

Kara B., Seher N., Karanis M. I. E., KOPLAY M., ARTAÇ H., Koc M., et al.
TURKISH JOURNAL OF PEDIATRICS , vol.63, no.1, pp.155-160, 2021 (SCI-Expanded) Creative Commons License identifier identifier identifier

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Herkert J. C., Verhagen J. M. A., Yotti R., Haghighi A., Phelan D. G., James P. A., et al.
AMERICAN HEART JOURNAL , vol.225, pp.108-119, 2020 (SCI-Expanded) identifier identifier identifier

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration

ÇAĞLAYAN A. O., GÜMÜŞ H., Sandford E., Kubisiak T. L., Ma Q., Ozel A. B., et al.
CEREBELLUM , vol.18, no.3, pp.665-669, 2019 (SCI-Expanded) Creative Commons License identifier identifier

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

Rad A., Altunoglu U., Miller R., Maroofian R., James K. N., ÇAĞLAYAN A. O., et al.
JOURNAL OF MEDICAL GENETICS , vol.56, no.5, pp.332-339, 2019 (SCI-Expanded) Creative Commons License identifier identifier

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome

Guemez-Gamboa A., ÇAĞLAYAN A. O., Stanley V., Gregor A., Zaki M. S., Saleem S. N., et al.
ANNALS OF NEUROLOGY , vol.84, no.5, pp.638-647, 2018 (SCI-Expanded) Creative Commons License identifier identifier

Biallelic loss of human CTNNA2, encoding alpha N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Schaffer A. E., Breuss M. W., ÇAĞLAYAN A. O., Al-Sanaa N., Al-Abdulwahed H. Y., Kaymakcalan H., et al.
NATURE GENETICS , vol.50, no.8, pp.1093-1107, 2018 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families

Kocoglu C., Gundogdu A., Kocaman G., KAHRAMAN KOYTAK P., ULUÇ K., Kiziltan G., et al.
NEUROLOGY-GENETICS , vol.4, no.1, 2018 (SCI-Expanded) Creative Commons License identifier identifier

Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Lardelli R. M., Schaffer A. E., Eggens V. R. C., Zaki M. S., Grainger S., Sathe S., et al.
NATURE GENETICS , vol.49, no.3, pp.457-464, 2017 (SCI-Expanded) Creative Commons License identifier identifier

Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly

Sgourdou P., Mishra-Gorur K., Saotome I., Henagariu O., Tuysuz B., Campos C., et al.
SCIENTIFIC REPORTS , vol.7, 2017 (SCI-Expanded) Creative Commons License identifier identifier

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

Tarlungeanu D. C., Deliu E., Dotter C. P., Kara M., Janiesch P. C., Scalise M., et al.
CELL , vol.167, no.6, pp.1481-1512, 2016 (SCI-Expanded) Creative Commons License identifier identifier

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

Jerber J., Zaki M. S., Al-Aama J. Y., Rosti R. O., Ben-Omran T., Dikoglu E., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , vol.99, no.5, pp.1181-1189, 2016 (SCI-Expanded) Creative Commons License identifier identifier

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Johansen A., Rosti R. O., Musaev D., Sticca E., Harripaul R., Zaki M., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , vol.99, no.4, pp.912-916, 2016 (SCI-Expanded) Creative Commons License identifier identifier

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

Li H., Bielas S. L., Zaki M. S., Ismail S., Farfara D., Um K., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , vol.99, no.2, pp.501-510, 2016 (SCI-Expanded) Creative Commons License identifier identifier

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

ÇAĞLAYAN A. O., Tuysuz B., Coskun S., Quon J., Harmanci A. S., Baranoski J. F., et al.
JOURNAL OF HUMAN GENETICS , vol.61, no.5, pp.395-403, 2016 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier

Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population

Kornilov S. A., Rakhlin N., Koposov R., Lee M., Yrigollen C., ÇAĞLAYAN A. O., et al.
PEDIATRICS , vol.137, no.4, 2016 (SCI-Expanded) Creative Commons License identifier identifier

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy

PER H., CANPOLAT M., Bayram A. K., Ulgen E., Baran B., KARDAŞ F., et al.
NEUROPEDIATRICS , vol.46, no.6, pp.420-423, 2015 (SCI-Expanded) identifier identifier

A rare case of congenital fibrosis of extraocular muscle type IA due to KIF2IA mutation with Marcus Gunn jaw-winking phenomenon

Bayram A. K., PER H., Quon J., CANPOLAT M., Uelgen E., Dogan H., et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , vol.19, no.6, pp.743-746, 2015 (SCI-Expanded) identifier identifier

The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome

GÜMÜŞ H., Bayram A. K., KARDAŞ F., CANPOLAT M., ÇAĞLAYAN A. O., Kumandas S., et al.
NEUROPEDIATRICS , vol.46, no.5, pp.313-320, 2015 (SCI-Expanded) identifier identifier

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis

Erson-Omay E. Z., ÇAĞLAYAN A. O., Schultz N., Weinhold N., Omay S. B., ÖZDUMAN K., et al.
NEURO-ONCOLOGY , vol.17, no.10, pp.1356-1364, 2015 (SCI-Expanded) Creative Commons License identifier identifier

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

ÇAĞLAYAN A. O., Comu S., Baranoski J. F., Parman Y., Kaymakcalan H., Akgumus G. T., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.58, no.1, pp.39-43, 2015 (SCI-Expanded) Creative Commons License identifier identifier

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Mishra-Gorur K., ÇAĞLAYAN A. O., Schaffer A. E., Chabu C., Henegariu O., Vonhoff F., et al.
NEURON , vol.84, no.6, pp.1226-1239, 2014 (SCI-Expanded) Creative Commons License identifier identifier

Brain Malformations Associated With Knobloch Syndrome-Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations

ÇAĞLAYAN A. O., Baranoski J. E., Aktar F., Han W., Tuysuz B., Guzel A., et al.
PEDIATRIC NEUROLOGY , vol.51, no.6, pp.806-813, 2014 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features

Tuysuz B., Bilguvar K., KOÇER N., YALÇINKAYA C., ÇAĞLAYAN A. O., Guel E., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.164, no.7, pp.1677-1685, 2014 (SCI-Expanded) identifier identifier

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Schaffer A. E., Eggens V. R. C., ÇAĞLAYAN A. O., Reuter M. S., Scott E., Coufal N. G., et al.
CELL , vol.157, no.3, pp.651-663, 2014 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Novarino G., Fenstermaker A. G., Zaki M. S., Hofree M., Silhavy J. L., Heiberg A. D., et al.
SCIENCE , vol.343, no.6170, pp.506-511, 2014 (SCI-Expanded) Creative Commons License identifier identifier

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum

ÇAĞLAYAN A. O., PER H., Akgumus G., GÜMÜŞ H., Baranoski J., CANPOLAT M., et al.
CLINICAL GENETICS , vol.84, no.4, pp.394-395, 2013 (SCI-Expanded) Creative Commons License identifier identifier

Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO

Clark V. E., Erson-Omay E. Z., Serin A., Yin J., Cotney J., Oezduman K., et al.
SCIENCE , vol.339, no.6123, pp.1077-1080, 2013 (SCI-Expanded) Creative Commons License identifier identifier

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Radmanesh F., ÇAĞLAYAN A. O., Silhavy J. L., Yilmaz C., Cantagrel V., Omar T., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , vol.92, no.3, pp.468-474, 2013 (SCI-Expanded) Creative Commons License identifier identifier

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

Bilguvar K., Tyagi N. K., ÖZKARA Ç., Tuysuz B., Bakircioglu M., Choi M., et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , vol.110, no.9, pp.3489-3494, 2013 (SCI-Expanded) Creative Commons License identifier identifier

A NEW PATIENT WITH ANDERMANN SYNDROME: AN UNDERDIAGNOSED CLINICAL GENETICS ENTITY?

Degerliyurt A., Akgumus G., ÇAĞLAR C., Bilguvar K., ÇAĞLAYAN A. O.
GENETIC COUNSELING , vol.24, no.3, pp.283-289, 2013 (SCI-Expanded) Sustainable Development identifier

A new syndrome of microtia with unilateral renal agenesis and short stature

ÇAĞLAYAN A. O., Stevens S. J. C., Albrechts J. C. M., DÜNDAR M., Engelen J.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.158A, no.8, pp.1837-1840, 2012 (SCI-Expanded) identifier identifier

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Kalb S., ÇAĞLAYAN A. O., Degerliyurt A., Schmid S., Ceylaner S., Hatipoglu N., et al.
CLINICAL GENETICS , vol.81, no.6, pp.598-601, 2012 (SCI-Expanded) identifier identifier

Idiopathic hirsutism: local and peripheral expression of aromatase (CYP19A) and 5 alpha-reductase genes (SRD5A1 and SRD5A2)

ÇAĞLAYAN A. O., DÜNDAR M., Tanriverdi F., Baysal N. A., ÜNLÜHİZARCI K., ÖZKUL Y., et al.
FERTILITY AND STERILITY , vol.96, no.2, pp.479-482, 2011 (SCI-Expanded) identifier identifier

Recessive LAMC3 mutations cause malformations of occipital cortical development

Barak T., Kwan K. Y., Louvi A., Demirbilek V., SAYGI S., Tuysuz B., et al.
NATURE GENETICS , vol.43, no.6, pp.590-596, 2011 (SCI-Expanded) Creative Commons License identifier identifier

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

Bakircioglu M., Carvalho O. P., Khurshid M., Cox J. J., Tuysuz B., Barak T., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , vol.88, no.5, pp.523-535, 2011 (SCI-Expanded) identifier identifier

ANIRIDIA PHENOTYPE AND MYOPIA IN A TURKISH BOY WITH A PAX6 GENE MUTATION

ÇAĞLAYAN A. O., Robinson D.
GENETIC COUNSELING , vol.22, no.2, pp.155-159, 2011 (SCI-Expanded) identifier

A BOY WITH CLASSICAL RUBINSTEIN-TAYBI SYNDROME BUT NO DETECTABLE MUTATION IN THE CREBBP AND EP300 GENES

ÇAĞLAYAN A. O., Lechno S., GÜMÜŞ H., Bartsch O., Fryns J. P.
GENETIC COUNSELING , vol.22, no.4, pp.341-346, 2011 (SCI-Expanded) identifier

Magnetic Resonance Spectroscopy in Two Siblings with Chorea-Acanthocytosis

İSMAİLOĞULLARI S., ÇAĞLAYAN A. O., Bader B., Danek A., Korkmaz S., Sharifov E., et al.
MOVEMENT DISORDERS , vol.25, no.16, pp.2894-2897, 2010 (SCI-Expanded) identifier identifier

Different aspects of atrial fibrillation genetics

ÇAĞLAYAN A. O.
INTERACTIVE CARDIOVASCULAR AND THORACIC SURGERY , vol.11, no.6, pp.779-783, 2010 (SCI-Expanded) Sustainable Development identifier identifier identifier

THE FIRST TURKISH CASE OF GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME (GLUT 1D) WITH MOLECULAR STUDIES

GÜMÜŞ H., ÇAĞLAYAN A. O., PER H., Kumandas S., Engelstad K., Kardes F., et al.
PEDIATRIC RESEARCH , vol.68, pp.338, 2010 (SCI-Expanded) Creative Commons License identifier

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Bahi-Buisson N., Poirier K., Boddaert N., Fallet-Bianco C., Specchio N., Bertini E., et al.
BRAIN , vol.133, pp.3194-3209, 2010 (SCI-Expanded) Creative Commons License identifier identifier

CYTOGENETIC RESULTS OF 153 PATIENTS WITH MENTAL RETARDATION IN MIDDLE ANATOLIA IN TURKEY

ÇAĞLAYAN A. O., Ozyazgan I., Demiryilmaz F., GÜMÜŞ H.
PEDIATRIC RESEARCH , vol.68, pp.409, 2010 (SCI-Expanded) Creative Commons License identifier

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

GÜMÜŞ H., Ghesquiere S., Per H., KONDOLOT M., Ichida K., Poyrazoglu G., et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , vol.52, no.9, pp.868-872, 2010 (SCI-Expanded) identifier identifier

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Bilguvar K., Ozturk A. K., Louvi A., Kwan K. Y., Choi M., Tatli B., et al.
NATURE , vol.467, no.7312, pp.207-211, 2010 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier

MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study

ÇAĞLAYAN A. O., Demiryilmaz F., Ozyazgan I., Gumus H.
NEPHROLOGY DIALYSIS TRANSPLANTATION , vol.25, no.8, pp.2520-2523, 2010 (SCI-Expanded) Creative Commons License identifier identifier

A Very Rare Neurocutaneous Disorder in 2 Siblings: Sjogren-Larsson Syndrome

ÇAĞLAYAN A. O., Gumus H.
JOURNAL OF CHILD NEUROLOGY , vol.25, no.8, pp.1003-1005, 2010 (SCI-Expanded) identifier identifier

Are heterochromatin polymorphisms associated with recurrent miscarriage?

ÇAĞLAYAN A. O., Ozyazgan I., Demiryilmaz F., ÖZGÜN M. T.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH , vol.36, no.4, pp.774-776, 2010 (SCI-Expanded) identifier identifier

Genetic causes of syndromic and non-syndromic autism

ÇAĞLAYAN A. O.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , vol.52, no.2, pp.130-138, 2010 (SCI-Expanded) Creative Commons License identifier identifier

Expression of WT1 gene in multiple myeloma patients at diagnosis: is WT1 gene expression a useful marker in multiple myeloma?

Saatci C., ÇAĞLAYAN A. O., KOÇYİĞİT İ., Akalin H., Kaynar L. G., ALTUNTAŞ F., et al.
HEMATOLOGY , vol.15, no.1, pp.39-42, 2010 (SCI-Expanded) identifier identifier

A CASE WITH A RARE CHROMOSOMAL ABNORMALITY: ISOCHROMOSOME 18p

DÜNDAR M., ÇAĞLAYAN A. O., Saatci C., Cetin Z., ARSLAN K., Uzak A. S.
GENETIC COUNSELING , vol.21, no.1, pp.69-74, 2010 (SCI-Expanded) identifier

AUTISM WITH DEL15p.11.1: CASE REPORT WITH A NEW CYTOGENETIC FINDING

ÇAĞLAYAN A. O., GÜMÜŞ H.
GENETIC COUNSELING , vol.21, no.2, pp.199-204, 2010 (SCI-Expanded) identifier

A UNIQUE CASE OF A PATIENT WITH PARTIAL TRISOMY 22 AND LIPODYSTROPHY: IS IT A NEW SYNDROME DUE TO AN IGF-IR MUTATION?

ÇAĞLAYAN A. O., Klammt J., Kiess W., HATİPOĞLU N., Pfaeffle R., Kurtoglu S., et al.
GENETIC COUNSELING , vol.21, no.2, pp.187-197, 2010 (SCI-Expanded) identifier

The Deletion Polymorphism of the Angiotensin-Converting Enzyme Gene Is Associated with Acute Aortic Dissection

KALAY N., ÇAĞLAYAN A. O., Akkaya H., Ozdogru I., DOĞAN A., İNANÇ M. T., et al.
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE , vol.219, no.1, pp.33-37, 2009 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier

Detection of p16 promotor hypermethylation in "Maras powder" and tobacco users

Saatci C., ÇAĞLAYAN A. O., ÖZKUL Y., Tahiri S., Turhan A. B., DÜNDAR M.
CANCER EPIDEMIOLOGY , vol.33, no.1, pp.47-50, 2009 (SCI-Expanded) Sustainable Development identifier identifier

Frank-ter Haar syndrome with unusual clinical features

DÜNDAR M., Saatci C., Tasdemir S., Akcakus M., ÇAĞLAYAN A. O., ÖZKUL Y.
EUROPEAN JOURNAL OF MEDICAL GENETICS , vol.52, no.4, pp.247-249, 2009 (SCI-Expanded) identifier identifier

Inherited diseases and syndromes leading to aortic aneurysms and dissections

ÇAĞLAYAN A. O., DÜNDAR M.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY , vol.35, no.6, pp.931-940, 2009 (SCI-Expanded) Creative Commons License Sustainable Development identifier identifier

Lack of association between the Glu298Asp polymorphism of endothelial nitric oxide synthase and slow coronary flow in the Turkish population

ÇAĞLAYAN A. O., KALAY N., Saatci C., Yalcin A., Akalin H., DÜNDAR M.
CANADIAN JOURNAL OF CARDIOLOGY , vol.25, no.3, 2009 (SCI-Expanded) Creative Commons License identifier

A PROVISIONALLY UNIQUE SYNDROME WITH FEATURES INCLUDING "MOLAR TOOTH" SIGN AND "FEMORAL HYPOPLASIA"

ÇAĞLAYAN A. O., Gumus H., Yikilmaz A., Gumus G. O., Per H.
GENETIC COUNSELING , vol.20, no.4, pp.359-365, 2009 (SCI-Expanded) identifier identifier identifier

FLUORESCENCE IN SITU HYBRIDIZATION AND SINGLE NUCLEOTIDE POLYMORPHISM OF A NEW CASE WITH INV DUP DEL(8p)

ÇAĞLAYAN A. O., Engelen J. J. M., Ghesquiere S., Alofs M., Saatci C., Dunbar M.
GENETIC COUNSELING , vol.20, no.4, pp.333-340, 2009 (SCI-Expanded) identifier

CAN HETEROCHROMATIN POLYMORPHISM OF CHROMOSOME 6 AFFECT FERTILITY?

ÇAĞLAYAN A. O., ÖZGÜN M. T., Demiryilmaz F., Ozyazgan I.
GENETIC COUNSELING , vol.20, no.2, pp.203-206, 2009 (SCI-Expanded) identifier identifier identifier

MIXED GONADAL DYSGENESIS WITH 45,X/46,X,IDIC(Y)/46,XY,IDIC(Y) KARYOTYPE

ÇAĞLAYAN A. O., Demiryilmaz F., Kendirci M., Ozyazgan I., Akalin H., Bittmann S.
GENETIC COUNSELING , vol.20, no.2, pp.173-179, 2009 (SCI-Expanded) identifier identifier identifier

The Relationship Between Slow Coronary Flow and Angiotensin Converting Enzyme and ATIIR1 Gene Polymorphisms

Yalcin A. A., KALAY N., ÇAĞLAYAN A. O., Kayaalti F., Duran M., Ozdogru I., et al.
JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION , vol.101, no.1, pp.40-45, 2009 (SCI-Expanded) identifier

Down syndrome like appearance with a novel de novo translocation t(6;21)(q21;q13)

DÜNDAR M., ÇAĞLAYAN A. O., Saatci C., ARSLAN K., ÖZKUL Y.
INDIAN JOURNAL OF MEDICAL RESEARCH , vol.128, no.5, pp.666-668, 2008 (SCI-Expanded) identifier identifier identifier

Apolipoprotein E3/E3 Genotype Decreases the Risk of Pituitary Dysfunction after Traumatic Brain Injury due to Various Causes: Preliminary Data

Tanriverdi F., TAHERİ S., ULUTABANCA H., ÇAĞLAYAN A. O., ÖZKUL Y., DÜNDAR M., et al.
JOURNAL OF NEUROTRAUMA , vol.25, no.9, pp.1071-1077, 2008 (SCI-Expanded) Sustainable Development identifier identifier

Holt-Oram syndrome in two generations with translocation t(9;15)(p12;q11.2)

ÇAĞLAYAN A. O., Koklu E., Saatci C., GÜNEŞ T., ÖZKUL Y., Narin N., et al.
ANNALS OF SAUDI MEDICINE , vol.28, no.3, pp.209-212, 2008 (SCI-Expanded) identifier identifier identifier

Clinical and radiographic delineation of odontochondrodysplasia

Unger S., Antoniazzi F., Brugnara M., ALANAY Y., ÇAĞLAYAN A. O., Lachlan K., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.146A, no.6, pp.770-778, 2008 (SCI-Expanded) Creative Commons License identifier identifier

ICR1 epimutations in 11p15 are restricted to patients with Silver-Russell syndrome features

Eggermann T., Meyer E., ÇAĞLAYAN A. O., DÜNDAR M., Schoenherr N.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.21, no.1, pp.59-62, 2008 (SCI-Expanded) Sustainable Development identifier

CAN THE CLASSICAL EUCHROMATIC VARIANTS OF 9q12/qh+ CAUSE RECURRENT ABORTIONS?

Duadar M., Caglaian A. O., Saatci C., Batukan C., Basbug M., ÖZKUL Y.
GENETIC COUNSELING , vol.19, no.3, pp.281-286, 2008 (SCI-Expanded) identifier identifier identifier

SCOLIOSIS, BLINDNESS AND ARACHNODACTYLY IN A LARGE TURKISH FAMILY: IS IT A NEW

DÜNDAR M., Erkilic K., Argun M., ÇAĞLAYAN A. O., Comeglio P., Koseoglu E., et al.
GENETIC COUNSELING , vol.19, no.3, pp.319-330, 2008 (SCI-Expanded) identifier identifier identifier

The effect of maras powder on DNA methylation and micronucleus formation in human buccal tissue

Saatci C., ÖZKUL Y., Tahiri S., ÇAĞLAYAN A. O., Turhan A. B., DÜNDAR M.
JOURNAL OF TOXICOLOGY AND ENVIRONMENTAL HEALTH-PART A-CURRENT ISSUES , vol.71, no.6, pp.396-404, 2008 (SCI-Expanded) Sustainable Development identifier identifier

Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome?

Dundar M., Erkilic K., Argun M., Caglayan A. O., Comeglio P., Koseoglu E., et al.
GENETIC COUNSELING , vol.19, pp.319-330, 2008 (SCI-Expanded)

How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population

DÜNDAR M., ÇAĞLAYAN A. O., Saatci C., Karaca H., Baskol M., Tahiri S., et al.
CANCER GENETICS AND CYTOGENETICS , vol.177, no.2, pp.95-97, 2007 (SCI-Expanded) Sustainable Development identifier identifier

Molybdenum cofactor deficiency: Clinical features in a Turkish patient

Per H., Gumus H., Ichida K., ÇAĞLAYAN A. O., Kumandas S.
BRAIN & DEVELOPMENT , vol.29, no.6, pp.365-368, 2007 (SCI-Expanded) identifier identifier

Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3 -> qter) and partial monosomy 17p (p13.3 -> pter)

Batukan C., ÖZGÜN M. T., Basbug M., ÇAĞLAYAN A. O., DÜNDAR M., Murat N.
PRENATAL DIAGNOSIS , vol.27, no.4, pp.365-368, 2007 (SCI-Expanded) identifier identifier

Prenatal diagnosis of a fetus with partial trisomy 7p

ÖZGÜN M. T., Batukan C., Basbug M., Akgun H., ÇAĞLAYAN A. O., DÜNDAR M.
FETAL DIAGNOSIS AND THERAPY , vol.22, no.3, pp.229-232, 2007 (SCI-Expanded) identifier identifier
Articles Published in Other Journals

Peripheral Expression of ADORA2A Is Increased and Is Correlated with Autism Spectrum Disorder Severity in a Sample of Turkish Children

Akköprü H., Alnak A., Karadoğan Z. N., ÇAĞLAYAN A. O., Özçetin M., Coşkun M.
Psychiatry and Clinical Psychopharmacology , vol.33, no.1, pp.14-19, 2023 (Scopus) identifier

Childhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic Carboxypeptidase 1

Samur M. B., Ercan-Sencicek A. G., Gumus H., Ali G. G., Baykan B., Caglayan A. O., et al.
JOURNAL OF PEDIATRIC NEUROLOGY , 2022 (ESCI) identifier

Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)

Kaymakçalan Çelebiler H., Alp H., Çağlayan A. O., Gülbahar O., Mete Gökmen E. N., Nikerel İ. E.
MARMARA MEDICAL JOURNAL , vol.34, no.3, pp.274-278, 2021 (ESCI) identifier

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features

ÇAĞLAYAN A. O., Sezer R. G., Kaymakcalan H., Ulgen E., Yavuz T., Baranoski J. F., et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES , vol.3, no.5, 2017 (ESCI) Creative Commons License identifier identifier

Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression

ÇAĞLAYAN A. O., GÜMÜŞ H., Kato M.
JOURNAL OF PEDIATRIC NEUROSCIENCES , vol.5, no.2, pp.147-149, 2010 (ESCI) identifier identifier

A female case with multicystic dysplastic kidney: new findings, genetic counseling, and literature review

ÇAĞLAYAN A. O., GÜMÜŞ H., Erdogan I.
CENTRAL EUROPEAN JOURNAL OF UROLOGY , vol.63, no.3, pp.151-152, 2010 (ESCI) identifier

Epidermolytic palmoplantar keratoderma due to keratin 9 gene mutation (Arg163Trp)

Caglayan A. O., Uksal U., Hennies H.
EUROPEAN JOURNAL OF PEDIATRIC DERMATOLOGY , vol.19, pp.95-96, 2009 (Scopus)

A case of partial trisomy 13 with features similar to 'C' Syndrome

ÇAĞLAYAN A. O., Kokiu E., Saatci C., Kurtoglu S., ÖZKUL Y., DÜNDAR M.
ERCIYES MEDICAL JOURNAL , vol.29, no.2, pp.159-163, 2007 (ESCI) identifier

Frequency of the common G985A mutation in the medium-chain acyl-CoA dehydrogenase gene in Turkish population

ÇAĞLAYAN A. O.
ERCIYES MEDICAL JOURNAL , vol.29, no.4, pp.263-267, 2007 (ESCI)

A case of partial trisomy 13 with features similar to ’xxC’xx Syndrome

ÇAĞLAYAN A. O.
ERCIYES MEDICAL JOURNAL , vol.29, no.2, pp.159-163, 2007 (ESCI)
Papers Presented at Peer-Reviewed Scientific Conferences

Phenotype-driven filtering in whole exome sequencing: Results of Human Phenotype Ontology usage to create patient-specific virtual gene panels in a single center

Kocabey M., Aktan Karaca M. B., Gürsoy S., Ülgenalp A., Çağlayan A. O.
European Human Genetics Conference 2025, Milan, Italy, 24 - 27 May 2025, pp.1-2, (Full Text)

SMA Tarama Testi Sonuçları ve Bulguların Değerlendirilmesi

Bulut E., Küçümen Kılcı Y., Kocabey M., Ülgenalp A., Çağlayan A. O.
16. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 4 - 08 December 2024, pp.153, (Full Text)

Nadir Bir Vaka: Smith-Kingsmore Sendromu

Çelik E., Kocabey M., Çağlayan A. O., Ülgenalp A., Giray Bozkaya Ö.
16. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 4 - 08 December 2024, pp.188, (Full Text)

Beaulieu-Boycott-Innes Sendromu Olgu Sunumu

Özkan E., Kocabey M., Kiraz A., Ülgenalp A., Giray Bozkaya Ö., Çağlayan A. O.
16. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 4 - 08 December 2024, pp.152, (Full Text)

Türkiye'deki Genetik Taşıyıcılık Oranlarının WES Verileri ile Değerlendirilmesi: Tek Merkez Deneyimi

AKTAN KARACA M. B., KOCABEY M., GÜRSOY S., ÜLGENALP A., ÇAĞLAYAN A. O.
16. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 6 - 08 December 2024, (Summary Text)

Endüstri Destekli Klinik Araştırmalarda Bütçeleme: Bir Üniversite Hastanesi Modeli Önerisi

Erbayraktar B., Tunçok Y., Atılgan L., Sert E., Çağlayan A. O., Esen A. A.
6. Ulusal Klinik Araştırmalar Kongresi, İstanbul, Turkey, 28 - 29 November 2024, pp.1-5, (Full Text) Sustainable Development

Klinik Araştırma Merkezleri: Dokuz Eylül Üniversitesi Örneği

Tunçok Y., Erbayraktar B., Çağlayan A. O., Atılgan L., Sert E., Dilek B., et al.
6. Ulusal Klinik Araştırmalar Kongresi , İstanbul, Turkey, 28 - 29 November 2024, pp.1-5, (Full Text) Sustainable Development

Meme Kanseri Gelişiminde Etkili Olabilecek Bir Aday Genin Yeni Nesil Dizileme Yöntemiyle Tespiti

Özkan E., Yaralı Y. A., Ülgenalp A., Çağlayan A. O.
2. Ulusal HematoOnkoGenetik Kongresi, İskele, Cyprus (Kktc), 4 - 07 May 2023, pp.24, (Summary Text)

MUTYH Geninde Saptanan Varyantların Spektrumu ve Fenotipik Yansımaları

Yıldırım R. N., Bora E., Ülgenalp A., Çağlayan A. O.
2. Ulusal HematoOnkoGenetik Kongresi, İskele, Cyprus (Kktc), 4 - 07 May 2023, pp.23, (Summary Text)

Likit Biyopsi Uygulanmış Küçük Hücreli Dişi Akciğer Karsinomu Tanılı Olgularda Test Edilen EGFR Mutasyonlarının Retrospektif Olarak Değerlendirilmesi: Tek Merkez Deneyimi

Aktan M. B., Ülgenalp A., Çağlayan A. O.
2. Ulusal HematoOnkoGenetik Kongresi, İskele, Cyprus (Kktc), 4 - 07 May 2023, pp.30, (Summary Text)

In Silico Evaluation of Variants of Unknown Significance of the CHEK2 Gene

Küçümen Y., Koşaca M., Gülen A., Yılmazbilek İ., Ülgenalp A., Karaca Erek E., et al.
“2. Uluslararası Katılımlı Ulusal HematoOnkoGenetik Kongresi”, İskele, Cyprus (Kktc), 4 - 07 May 2023, pp.29, (Summary Text)

Evaluation of Etiology, Diagnosis, Treatment and Follow-up Results of Patients With Epilepsy Under the Age of Two

Üstebay D. Ü., Aykol D., Gök A., Soydemir D., Giray Bozkaya Ö., Çağlayan A. O., et al.
15th European Paediatric Neurology Society Congress, Praha, Czech Republic, 20 - 24 June 2023, pp.269, (Summary Text)

Çocukluk çağı miyastenia gravisin genetik, serolojik ve klinik değerlendirmesi- Alt grup analizlerin tek merkez deneyimi

Özsoy Ö., Cinleti T., Günay Ç., Sarıkaya Uzan G., Giray Bozkaya Ö., Çağlayan A. O., et al.
24. ULUSAL ÇOCUK NÖROLOJİSİ KONGRESİ , Muğla, Turkey, 17 - 21 May 2023, pp.343, (Summary Text)

Rare diseases in the multiomic era: Malformations of cortical development as an example

Çağlayan A. O.
Uluslararası Proteomik Kongresi // 4. Ulusal Proteomik Kongresi, Turkey, 14 October 2022, (Summary Text)

Demans Ön Tanılı Hastaların Yeni Nesil Dizileme Panel Yöntemi Ile Araştırılması

ÖZKAN E., BORA E., ÜLGENALP A., ÇAĞLAYAN A. O.
15. Ulusal Tıbbi Genetik Kongresi, Turkey, 09 November 2022, (Summary Text)

Entelektüel Yetersizlik Ön Tanılı Hastaların Yeni Nesil Dizileme Yöntemi Ile Araştırılması

Küçümen Y., Çankaya T., Ülgenalp A., Çağlayan A. O.
“15. Ulusal Tıbbi Genetik Kongresi”, Muğla, Turkey, 13 November 2022, pp.65, (Summary Text)

Primer İmmun Yetmezlik Ön Tanılı Olguların Genetik Altyapısının Yeni Nesil Dizileme Analizi Ile Araştırılması

Yıldırım R. N., Çankaya T., Giray Bozkaya Ö., Ülgenalp A., Çağlayan A. O.
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.170, (Summary Text)

Renal Tubuler Hastalıkların Yeni Nesil Dizileme Analizi Yöntemi İle Araştırılması

Yaralı Y. A., Giray Bozkaya Ö., Ülgenalp A., Çağlayan A. O.
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.78, (Summary Text)

Pah Geni Varyantlarının Retrospektif Olarak Değerlendirilmesi: Tek Merkez Deneyimi

Aktan M. B., Bora E., Ülgenalp A., Çağlayan A. O.
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.76, (Summary Text)

A RARE CAUSE OF COMBINED HEPATIC AND RENAL FAILURE: NPHP19 DUE TO A NOVEL DCDC2 VARIANT IN TWO SIBLINGS

YILDIZ G., TORUN BAYRAM M., ÇAĞLAYAN A. O., ÜLGENALP A., SOYLU A., KAVUKÇU S.
54th ESPN Annual Meeting, Ljubljana, Slovenia, Slovenia, 22 - 25 June 2022, vol.37, pp.2854-2855, (Summary Text)

Pathogenic variations of MUTYH gene in hereditary cancer cases

Bora E., Koç A., Kekilli A., Yavuzşen T., Çağlayan A. O., Ülgenalp A.
V. International Participated Erciyes Medical Genetics Days Congress, Nevşehir, Turkey, 20 - 22 February 2020, pp.78, (Full Text) Sustainable Development

Genetic analyses in understanding of renal tubulopathies

Bora E., Kemer D., Koç A., Bayram M., Çağlayan A. O., Ülgenalp A., et al.
V. International Participated Erciyes Medical Genetics Days Congress, Kayseri, Turkey, 20 - 22 February 2020, pp.69, (Full Text)

Targeted next generation sequencing analysis of 30 Turkish patients with inherited cardiomyopathies

BORA E., YILDIZ BULUT A., ÖZPELİT E., Özcan E., ÇAĞLAYAN A. O.
14. Ulusal Tıbbi Genetik Kongresi, Turkey, 20 - 22 November 2020, (Full Text)

MODY genetics:Novel variants and genotype-phenotype correlation

ÇANKAYA T., bozkurt S., ATASEVEN KULALI M., KOÇ A., BÖBER E., ABACI A., et al.
V. Uluslararası Katılımlı Erciyes Tıp Genetik Günleri Kongresi, 20 - 22 February 2020, (Full Text)

TUSC3 Mutasyonu Pozitif Mental Retarde Kardeşler, Vaka Takdimi

Özmansur E., PEDÜK Y., GÜMÜŞ H., ÇAĞLAYAN A. O., PER H.
5. Bahar Pediatri Günleri Kongresi, Turkey, 5 - 07 March 2020, (Full Text)

Identifying Common Pathogenesis of Diseases Using Literature Mined Gene Interactions

Dinçsoy Ö., ÖZGÜR TÜRKMEN A., ÇAĞLAYAN A. O.
The International Symposium on Health Informatics and Bioinformatics, 17 - 19 October 2019, pp.202-203, (Full Text)

BRCA1/2 ve Ötesi: Panel Testleri

ÇAĞLAYAN A. O.
15. Ulusal Meme Hastalıkları Kongresi, Turkey, 17 - 20 October 2019, (Summary Text)

Nörogenetik Hastalıklarda Güncel Tedaviler

ÇAĞLAYAN A. O.
2. Genetikte Güncel Tedaviler Sempozyumu, Turkey, 5 - 06 October 2019, (Summary Text)

MACROD2 gene expression profile in autism spectrum disorder: a case-control study

Alnak A., Kuşcu Özücer İ., ÇAĞLAYAN A. O., COŞKUN M.
11th International Congress on Psychopharmacology 7th International Symposium on Child and Adolescent Psychopharmacology, 18 - 21 April 2019, vol.29, pp.1-112, (Full Text)

Severe speech delay in Cohen Syndrome: three novel mutations and the long-term follow-up of nine patients

Akdeniz B., Gunes N., ULUDAĞ D., Ercan-Sencicek G., ÇAĞLAYAN A. O., Bilguvar K., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.315-316, (Summary Text) identifier

Novel gene identification via whole exome sequencing in patients diagnosed with primary autosomal recessive primary microcephaly

ÇAĞLAYAN A. O.
International Participated Erciyes Medical Genetics Days 2019, Turkey, 21 - 23 February 2019, (Summary Text)

Otozomal Resesif Primer Mikrosefalilere yaklaşım

ÇAĞLAYAN A. O.
Erciyes Tıp Genetik Günleri 2019, Turkey, 21 - 23 February 2019, (Summary Text)

CONSTITUTIONAL MISMATCH REPAIR DEFECT SYNDROME

ÇAĞLAYAN A. O.
Erciyes Medical Genetics Days 2018, Turkey, 7 - 10 March 2018, vol.40, pp.35-79, (Summary Text)

A NOVEL CENTROMERE PROTEIN F MUTATION IN A PEDIATRIC PATIENT WITH PRESENTATION OF MOTOR AND MENTAL RETARDATION, MICROCEPHALY AND DRUG-RESISTANT EPILEPSY

BAYRAM A., PER H., GÜMÜŞ H., Gunel M., ÇAĞLAYAN A. O.
32nd International Epilepsy Congress, Barcelona, Spain, 2 - 06 September 2017, vol.58, (Summary Text) identifier

Nadir Bir Genodermatoz: H Sendromu

SEZER Ö., KARAGÖZ ÖZEN D. S., DEMİRAĞ M. D., TOTO İ., Öztürk H. P., TOY M. F., et al.
2. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Turkey, 23 - 25 February 2017, pp.1-107, (Summary Text)

Severe Walker Warburg syndrome associated with new mutation in ISPD gene identified with whole exome sequencing

BAYRAM A., PER H., GÜMÜŞ H., Kumandas S., ÇAĞLAYAN A. O.
21st International Congress of the World-Muscle-Society, Granada, Nicaragua, 4 - 08 October 2016, vol.26, (Summary Text) identifier

Constitutive mismatch repair defect syndrome: New insights from whole exome sequencing data and functional studies

ÇAĞLAYAN A. O., Omay Z. E. E., Koksal Y., Coskun S., ÜNAL E., PER H., et al.
European Biotechnology Conference, Latvia, 5 - 07 May 2016, vol.231, (Summary Text) identifier

FBOX07 mutation with juvenile Parkinsonism and behavioral disorders

Kuzu M., Durmaz F. N., ULUKAN Ç., Kaymakcalan H., ÇAĞLAYAN A. O., Akbostanci C.
20th International Congress of Parkinson's Disease and Movement Disorders, Berlin, Germany, 19 - 23 June 2016, vol.31, (Summary Text) identifier

Mikrosefali Ve Atipik Otizm Kliniğine Sahip Üç Kardeş Ve İndeks Olguda Transkripsiyon Ön Başlangıç Mediyatör Kompleks Alt Birim 17 de MED17 Birleşik Heterozigot Mutasyon

KAÇAR BAYRAM A., PER H., GÜMÜŞ H., GÜNEL M., ÇAĞLAYAN A. O.
18. Ulusal Çocuk Nöroloji Kongresi 2016, Belek/Antalya, Türkiye, Turkey, 20 - 24 April 2016

Yeni nesil dizileme ile mikrosefali hastalarinda bilinen gen mutasyonlari

GÜNEŞ N., ÇAĞLAYAN A. O., YALÇINKAYA C., Bilguvar K., Günel M., TÜYSÜZ B.
3. Nörometabolik dismorfoloji sempozyumu, Turkey, 10 - 12 March 2016, (Full Text)

Tüm eksom dizileme ile Joubert sendromunda moleküler tani

ERBEK F., ÇAĞLAYAN A. O., Ercan Şençiçek G., Bilguvar K., Günel M., TÜYSÜZ B., et al.
3. Nörometabolik dismorfoloji sempozyumu, Turkey, 10 - 12 March 2016, (Full Text)

Genotype Phenotype Correlation in Twenty Patients from Six Families from Turkey with Camptodactyly Arthropathy Coxavara Pericarditis CACP Syndrome

Saliha Y., ÇAĞLAYAN A. O., Cemre C., Ekinsu A., KASAPÇOPUR Ö., Günel M., et al.
12 th ISDS meeting Istanbul 2015, 29 - 31 July 2015, (Summary Text)

Üç Kardeş Olguda Merozin Negatif Konjenital Muskuler Distrofi

KAÇAR BAYRAM A., CANPOLAT M., GÜMÜŞ H., KUMANDAŞ S., BİLGUVAR K., COŞKUN A., et al.
17. Ulusal Çocuk Nöroloji Kongresi 2015, Turkey, 6 - 09 May 2015

THE CLASSICAL PHENOTYPE OF GLUCOSE TRANSPORTER-1 DEFICIENCY SYNDROME (GLUT-1 DS): DIFFERENT CLINICAL EXPRESSION AND KETOGENIC DIET RESULTS OF PEDIATRIC PATIENTS

BAYRAM A., PER H., KARDAŞ F., CANPOLAT M., ÇAĞLAYAN A. O., Kumandas S., et al.
31st International Epilepsy Congress, İstanbul, Turkey, 5 - 09 September 2015, vol.56, pp.87, (Summary Text) identifier

Exomic sequencing in cortical malformations

ÇAĞLAYAN A. O.
European Biotechnology Congress, İstanbul, Turkey, 28 September - 01 October 2011, vol.22, (Summary Text) identifier

The cytogenetic and DNA damage effects of boric acid a food preservative on pregnant rats and their foetuses

SAATÇİ Ç., Taşçıoğlu N., Ünal N., ÖRENAY BOYACIOĞLU S., ÇAĞLAYAN A. O., ÖZKUL Y., et al.
9. Ulusal Tıbbi Genetik Kongresi, Turkey, 1 - 05 December 2010, (Summary Text)

Kore Akantositozlu Türk Aile

İSMAİLOĞULLARI S., ÇAĞLAYAN A. O., KORKMAZ S., Elman S., KURNAZ F., AKSU M.
45. Ulusal Nöroloji Kongresi, Turkey, 10 - 15 November 2009, pp.26-27, (Summary Text)

No significant expression of Wt1 gene in multiple myeloma patients at diagnosis: Is Wt1 gene expression useful marker for minimal residual disease in multiple myeloma?

ÖZKUL Y., ÇAĞLAYAN A. O., Kocyigit I., Saatci C., Akalin H., Demir M., et al.
49th Annual Meeting of the American-Society-of-Hematology, Georgia, United States Of America, 8 - 11 December 2007, vol.110, (Summary Text) identifier

Circulating testosterone regulates the local GnRH-II expression in peripheral lymphocytes: An in vivo interaction in patients with idiopathic hypogonadotrophic hypogonadism (IHH)

Tanriverdi F., Demirkoparan U., Akalin H., ÇAĞLAYAN A. O., Ozkul Y., DÜNDAR M., et al.
6th International Congress of Neuroendocrinology, Pennsylvania, United States Of America, 19 - 22 June 2006, vol.27, pp.107, (Summary Text) identifier
Books

Yeni Nesil Dizileme ve Klinikteki Uygulamaları

Çağlayan A. O. (Editor)
Güneş Tıp Kitabevi, Ankara, 2024

Kortikal Gelişimsel Malformasyonlar ve Genetik

Ercan Şençiçek A. G., Çağlayan A. O., Küçümen Y., Yapıcı Z.
in: TANIDAN TEDAVİYE NÖROGENETİK, Hacer Durmuş Nerses Bebek Sibel Uğur İşeri Esra Battaloğlu, Editor, Bayçınar Tıbbi Yayıncılık ve Reklam Hiz. Tic. Ltd. Şti., Ankara, pp.235-256, 2024

Zihinsel Gelişimsel Bozukluk

Çağlayan A. O., Ercan Şençiçek A. G., Aktan Karaca M. B., Kılınçaslan A.
in: TANIDAN TEDAVİYE NÖROGENETİK, Hacer Durmuş Nerses Bebek Sibel Uğur İşeri Esra Battaloğlu, Editor, Bayçınar Tıbbi Yayıncılık ve Reklam Hiz. Tic. Ltd. Şti., Ankara, pp.195-205, 2024

Otizm Spektrum Bozukluğu

Ercan Şençiçek A. G., Kaymakçalan Çelebiler H., Çağlayan A. O., Küçümen Y., Kılınçaslan A.
in: Tanıdan Tedaviye Nörogenetik, Hacer Durmuş Nerses Bebek Sibel Uğur İşeri Esra Battaloğlu, Editor, Bayçınar Tıbbi Yayıncılık ve Reklam Hiz. Tic. Ltd. Şti., Ankara, pp.173-194, 2024

Yeni Nesil Dizileme Verilerinin Yorumlanması

Kocabey M., Ülgenalp A., Çağlayan A. O.
in: Yeni Nesil Dizileme ve Klinikteki Uygulamaları, Prof. Dr. Ahmet Okay Çağlayan,Dr. Zafer Yüksel, Editor, Güneş Tıp Kitabevi, Ankara, pp.263-277, 2024

Nadir Hastalıklara Multi-omik Yaklaşım

Küçümen Y., Çağlayan A. O.
in: Yeni Nesil Dizileme ve Klinikteki Uygulamaları, ahmet okay çağlayan,zafer yüksel, Editor, Güneş Tıp Kitabevi, Ankara, pp.674-684, 2024

Spinoserebellar Ataksilere Genetik Yaklaşım

Bozkurt S., Çağlayan A. O.
in: Nükleotid Tekrar Artışı Hastalıkları, Prof. Dr. Ayşe Gül ZAMANİ, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.37-47, 2023 Creative Commons License

Otizm spektrum bozukluklarına multiomik yaklaşım

KÜÇÜMEN Y., ÇAĞLAYAN A. O.
in: Otizm Spektrum Bozukluklarında Genetik Değerlendirme ve En Son Genetik Çalışmalar, Kaymakçalan H, Editor, Türkiye Klinikleri Tıp Bilimleri Dergisi, pp.29-38, 2022

Gelecekteki Genom Tabanlı Tarama Yaklaşımları_Realite ve Potansiyel

ÇAĞLAYAN A. O.
in: Güncel Genetik Tabanlı Tarama Testleri, Haluk Akın, Editor, Türkiye Klinikleri, pp.69-73, 2020

Meningiomlara Genetik Yaklaşım

ACAR A., ÇAĞLAYAN A. O.
in: Meningiomlara Genel Bakış, Hakan Hanımoğlu, Serdar Çevik, Şevket Evran, Oğuz Baran, Editor, US Akademi, İzmir, pp.47-60, 2020

Anne Sütü ve Epigenetik

KOÇAK H., ÇAĞLAYAN A. O.
in: Aile Hekimliğinde Anne Sütünün Anne ve Bebek Sağlığı Açısından Önemi, Telatar B, Editor, Türkiye Klinikleri, Ankara, pp.36-42, 2019

Boy Kısalığına Yol açan Genetik Bozukluklar

Çağlayan A. O.
in: Çocuklarda ve Ergenlerde Büyüme, Yusuf Kenan Haspolat,Atilla Büyükgebiz,İlyas Yolbaş,Fesih Aktar, Editor, Orient Yayınları, Ankara, pp.293-324, 2018

Çoklu Konjenital Anomalisi Bulunan Hastalarda Güncel Tanı Yöntemleri: Laboratuvardan Kliniğe

Çağlayan A. O.
in: Sitogenetik, Aynur Acar, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.47-53, 2018

Kraniyofasiyal anomaliler

Çağlayan A. O.
in: Tıbbi Genetik ve Klinik Uygulamaları, Munis Dündar, Editor, Erciyes Üniversitesi Yayınları, Kayseri, pp.723-752, 2016

Dysmorphology and Databases

Çağlayan A. O.
in: Atlas of Dysmorphology and Diagnosis, Munis Dundar, Editor, Erciyes Üniversitesi Yayınları, Kayseri, pp.499-512, 2015

Lomber dejeneratif disk hastalığında genetik etiopatogenez ve güncel genetik tedavi yöntemleri

Çağlayan A. O.
in: Lomber Dejeneratif Disk Hastalığı, R.K. Koç, Editor, Buluş, Ankara, pp.16-28, 2010

Gen Tedavisi

Çağlayan A. O.
in: Modern Biyoteknoloji ve Uygulamaları, M. Dündar,H. Bağış, Editor, Erciyes Üniversitesi Yayınları, Kayseri, pp.631-644, 2010

Moleküler Tıbba Giriş

Çağlayan A. O.
in: Andreoli and Carpenter’s Cecil Essentials of Medicine, Selçuk Mıstık, Editor, Nobel Tıp Kitapevi, İstanbul, pp.2-15, 2008
Expert Reports

Knobloch syndrome

Çağlayan A. O.
Orphanet, pp.1, Paris, 2020
Other Publications

Otizm: Karmaşık bir genetik hastalık mı?

Çağlayan A. O.
Other, pp.36-39, 2013
Metrics

Publication

192

Citation (WoS)

3705

H-Index (WoS)

26

Citation (Scopus)

3907

H-Index (Scopus)

27

Citation (Sobiad)

124

H-Index (Sobiad)

5

Project

23

Thesis Advisory

5

Open Access

43
UN Sustainable Development Goals