Prof. Dr. AHMET OKAY ÇAĞLAYAN

Yayın Ağı

Makaleler 122

1. Reduction in peripheral expression of the TMLHE gene in Turkish youth with autism spectrum disorder

Özücer İ. K., Alnak A., Akköprü H., Karadoğan Z. N., ÇAĞLAYAN A. O., Selman S. B., et al.

Gene Reports , cilt.42, 2026 (ESCI, Scopus)

2. Rare Genetic Variants of Cell Adhesion Molecules in Transgender Men Suggest a Potential Role in Gender Dysphoria.

Onur Cura D., Çankaya T., Altiok Clark Ö., Aydin L. R., Çağlayan A. O., Ülgenalp A.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation , cilt.19, ss.1-12, 2025 (SCI-Expanded, Scopus)

3. **Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants**

KAYMAKÇALAN ÇELEBİLER H., Barak T., Rai D. K., KAYA İ., Erbilgin S., ÇIKILI UYTUN M., et al.

MOLECULAR SYNDROMOLOGY , cilt.16, sa.4, ss.342-353, 2025 (SCI-Expanded, Scopus)

4. 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 , cilt.638, sa.8049, ss.172-181, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

5. 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 , cilt.16, sa.1, ss.61-68, 2025 (SCI-Expanded, Scopus)

6. 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 , cilt.12, 2025 (SCI-Expanded, SSCI, Scopus) Sürdürülebilir Kalkınma

7. 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 , cilt.1, sa.1, ss.1-14, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

8. 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 , cilt.25, sa.3, ss.201-213, 2024 (SCI-Expanded, Scopus)

9. 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 , cilt.35, sa.5, ss.374-384, 2024 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

10. 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 , cilt.123, sa.6, ss.2325-2335, 2023 (SCI-Expanded, Scopus)

11. 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. Y., Gürsoy S., et al.

NEUROLOGY ASIA , cilt.28, sa.4, ss.1085-1094, 2023 (SCI-Expanded, Scopus)

12. 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 , cilt.21, 2023 (ESCI, Scopus)

13. 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 , cilt.14, 2023 (SCI-Expanded, Scopus)

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

Kocabey M., Cankaya T., Bayram M., Ulgenalp A., Caglayan A. O., Giray Bozkaya Ö.

Clinical and Experimental Rheumatology , cilt.41, sa.10, ss.2017-2026, 2023 (SCI-Expanded, Scopus)

15. 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 , cilt.83, sa.5, ss.456-465, 2023 (SCI-Expanded, Scopus)

16. MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9

Cinleti T., Gülen A., Sönmez B., Gürsoy S., Boyacioğlu Ö. K., Asilsoy S., et al.

CLINICAL DYSMORPHOLOGY , cilt.32, sa.3, ss.133-138, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

17. 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 , cilt.191, ss.1530-1545, 2023 (SCI-Expanded, Scopus)

18. 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 , cilt.33, sa.1, ss.14-19, 2023 (Scopus, TRDizin)

19. 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 , cilt.38, sa.1, ss.113-114, 2023 (SCI-Expanded, Scopus)

20. 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 , cilt.38, sa.1, ss.115-117, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

21. 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.

PEDIATRIC NEPHROLOGY , cilt.37, sa.11, ss.2854-2855, 2022 (SCI-Expanded, Scopus)

22. 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 , cilt.35, sa.12, ss.1528-1536, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

23. 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 , cilt.59, sa.9, ss.878-887, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

24. 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 , cilt.32, sa.5, 2022 (SCI-Expanded, Scopus)

25. 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 , cilt.67, sa.9, ss.553-556, 2022 (SCI-Expanded, Scopus)

26. 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 , cilt.136, ss.43-49, 2022 (SCI-Expanded, Scopus)

27. 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 , cilt.31, ss.125-131, 2022 (SCI-Expanded, Scopus)

28. 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 , cilt.22, sa.3, ss.291-315, 2022 (SCI-Expanded, Scopus)

29. 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 , cilt.48, ss.1202-1211, 2022 (SCI-Expanded, Scopus)

30. 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 , cilt.23, sa.4, 2022 (SCI-Expanded, Scopus)

31. 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 , cilt.262-263, ss.118-133, 2022 (SCI-Expanded, Scopus)

32. 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 , cilt.32, ss.135-142, 2022 (SCI-Expanded, Scopus, TRDizin)

33. 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 , cilt.31, ss.36-38, 2022 (SCI-Expanded, Scopus)

34. 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 , cilt.64, sa.6, ss.1130-1135, 2022 (SCI-Expanded, Scopus, TRDizin)

35. 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 , cilt.64, sa.6, ss.1106-1116, 2022 (SCI-Expanded, Scopus)

36. 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 , cilt.31, sa.3, ss.261-269, 2021 (SCI-Expanded, Scopus, TRDizin)

37. 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 , cilt.34, sa.3, ss.274-278, 2021 (ESCI, Scopus, TRDizin)

38. Biallelic ZNF335 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 , cilt.35, sa.1, ss.23-28, 2021 (SCI-Expanded, Scopus)

39. 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 , cilt.66, sa.2, ss.215-218, 2021 (SCI-Expanded, Scopus)

40. 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 , cilt.63, sa.1, ss.155-160, 2021 (SCI-Expanded, Scopus)

41. 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 , cilt.225, ss.108-119, 2020 (SCI-Expanded, Scopus)

42. 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 , cilt.18, sa.3, ss.665-669, 2019 (SCI-Expanded, Scopus)

43. 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 , cilt.56, sa.5, ss.332-339, 2019 (SCI-Expanded, Scopus)

44. 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 , cilt.84, sa.5, ss.638-647, 2018 (SCI-Expanded, Scopus)

45. 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 , cilt.50, sa.8, ss.1093-1107, 2018 (SCI-Expanded, Scopus)

46. 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 , cilt.4, sa.1, 2018 (SCI-Expanded, Scopus)

47. 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 , cilt.3, sa.5, 2017 (ESCI, Scopus)

48. 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 , cilt.7, 2017 (SCI-Expanded, Scopus)

49. 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 , cilt.49, sa.3, ss.457-464, 2017 (SCI-Expanded, Scopus)

50. 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 , cilt.167, sa.6, ss.1481-1512, 2016 (SCI-Expanded, Scopus)

51. 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 , cilt.99, sa.5, ss.1181-1189, 2016 (SCI-Expanded, Scopus)

52. 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 , cilt.99, sa.4, ss.912-916, 2016 (SCI-Expanded, Scopus)

53. 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 , cilt.99, sa.2, ss.501-510, 2016 (SCI-Expanded, Scopus)

54. 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 , cilt.61, sa.5, ss.395-403, 2016 (SCI-Expanded, Scopus)

55. 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 , cilt.137, sa.4, 2016 (SCI-Expanded, Scopus)

56. 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 , cilt.46, sa.6, ss.420-423, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

57. 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 , cilt.19, sa.6, ss.743-746, 2015 (SCI-Expanded, Scopus)

58. 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 , cilt.17, sa.10, ss.1356-1364, 2015 (SCI-Expanded, Scopus)

59. 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 , cilt.46, sa.5, ss.313-320, 2015 (SCI-Expanded, Scopus)

60. 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 , cilt.58, sa.1, ss.39-43, 2015 (SCI-Expanded, Scopus)

61. 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 , cilt.84, sa.6, ss.1226-1239, 2014 (SCI-Expanded, Scopus)

62. 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 , cilt.51, sa.6, ss.806-813, 2014 (SCI-Expanded, Scopus)

63. 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 , cilt.164, sa.7, ss.1677-1685, 2014 (SCI-Expanded, Scopus)

64. 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 , cilt.157, sa.3, ss.651-663, 2014 (SCI-Expanded, Scopus)

65. 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 , cilt.343, sa.6170, ss.506-511, 2014 (SCI-Expanded, Scopus)

66. 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 , cilt.84, sa.4, ss.394-395, 2013 (SCI-Expanded, Scopus)

67. 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 , cilt.92, sa.3, ss.468-474, 2013 (SCI-Expanded, Scopus)

68. 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 , cilt.339, sa.6123, ss.1077-1080, 2013 (SCI-Expanded, Scopus)

69. 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 , cilt.110, sa.9, ss.3489-3494, 2013 (SCI-Expanded, Scopus)

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

Degerliyurt A., Akgumus G., ÇAĞLAR C., Bilguvar K., ÇAĞLAYAN A. O.

GENETIC COUNSELING , cilt.24, sa.3, ss.283-289, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma

71. 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 , cilt.158A, sa.8, ss.1837-1840, 2012 (SCI-Expanded, Scopus)

72. 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 , cilt.81, sa.6, ss.598-601, 2012 (SCI-Expanded, Scopus)

73. 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 , cilt.96, sa.2, ss.479-482, 2011 (SCI-Expanded, Scopus)

74. 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 , cilt.43, sa.6, ss.590-596, 2011 (SCI-Expanded, Scopus)

75. 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 , cilt.88, sa.5, ss.523-535, 2011 (SCI-Expanded, Scopus)

76. 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 , cilt.22, sa.4, ss.341-346, 2011 (SCI-Expanded)

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

ÇAĞLAYAN A. O., Robinson D.

GENETIC COUNSELING , cilt.22, sa.2, ss.155-159, 2011 (SCI-Expanded)

78. Different aspects of atrial fibrillation genetics

ÇAĞLAYAN A. O.

INTERACTIVE CARDIOVASCULAR AND THORACIC SURGERY , cilt.11, sa.6, ss.779-783, 2010 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

79. 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 , cilt.25, sa.16, ss.2894-2897, 2010 (SCI-Expanded, Scopus)

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

ÇAĞLAYAN A. O., Ozyazgan I., Demiryilmaz F., GÜMÜŞ H.

PEDIATRIC RESEARCH , cilt.68, ss.409, 2010 (SCI-Expanded, Scopus)

81. 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 , cilt.133, ss.3194-3209, 2010 (SCI-Expanded, Scopus)

82. 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 , cilt.68, ss.338, 2010 (SCI-Expanded, Scopus)

83. 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 , cilt.467, sa.7312, ss.207-211, 2010 (SCI-Expanded, Scopus)

84. 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 , cilt.52, sa.9, ss.868-872, 2010 (SCI-Expanded, Scopus)

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

ÇAĞLAYAN A. O., Gumus H.

JOURNAL OF CHILD NEUROLOGY , cilt.25, sa.8, ss.1003-1005, 2010 (SCI-Expanded, Scopus)

86. 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 , cilt.25, sa.8, ss.2520-2523, 2010 (SCI-Expanded, Scopus)

87. Are heterochromatin polymorphisms associated with recurrent miscarriage?

ÇAĞLAYAN A. O., Ozyazgan I., Demiryilmaz F., ÖZGÜN M. T.

JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH , cilt.36, sa.4, ss.774-776, 2010 (SCI-Expanded, Scopus)

88. 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 , cilt.5, sa.2, ss.147-149, 2010 (ESCI, Scopus)

89. 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 , cilt.15, sa.1, ss.39-42, 2010 (SCI-Expanded, Scopus)

90. Genetic causes of syndromic and non-syndromic autism

ÇAĞLAYAN A. O.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY , cilt.52, sa.2, ss.130-138, 2010 (SCI-Expanded, Scopus)

91. 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 , cilt.21, sa.2, ss.187-197, 2010 (SCI-Expanded)

92. 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 , cilt.63, sa.3, ss.151-152, 2010 (ESCI, Scopus)

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

ÇAĞLAYAN A. O., GÜMÜŞ H.

GENETIC COUNSELING , cilt.21, sa.2, ss.199-204, 2010 (SCI-Expanded)

94. 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 , cilt.21, sa.1, ss.69-74, 2010 (SCI-Expanded)

95. 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 , cilt.219, sa.1, ss.33-37, 2009 (SCI-Expanded, Scopus)

96. 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 , cilt.33, sa.1, ss.47-50, 2009 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

97. 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 , cilt.52, sa.4, ss.247-249, 2009 (SCI-Expanded, Scopus)

98. Inherited diseases and syndromes leading to aortic aneurysms and dissections

ÇAĞLAYAN A. O., DÜNDAR M.

EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY , cilt.35, sa.6, ss.931-940, 2009 (SCI-Expanded, Scopus)

99. 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 , cilt.25, sa.3, 2009 (SCI-Expanded, Scopus)

100. 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 , cilt.20, sa.4, ss.333-340, 2009 (SCI-Expanded)

101. CAN HETEROCHROMATIN POLYMORPHISM OF CHROMOSOME 6 AFFECT FERTILITY?

ÇAĞLAYAN A. O., ÖZGÜN M. T., Demiryilmaz F., Ozyazgan I.

GENETIC COUNSELING , cilt.20, sa.2, ss.203-206, 2009 (SCI-Expanded, Scopus)

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

Caglayan A. O., Uksal U., Hennies H.

EUROPEAN JOURNAL OF PEDIATRIC DERMATOLOGY , cilt.19, ss.95-96, 2009 (Scopus)

103. 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 , cilt.20, sa.4, ss.359-365, 2009 (SCI-Expanded, Scopus)

104. 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 , cilt.20, sa.2, ss.173-179, 2009 (SCI-Expanded, Scopus)

105. 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 , cilt.101, sa.1, ss.40-45, 2009 (SCI-Expanded, Scopus)

106. 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 , cilt.128, sa.5, ss.666-668, 2008 (SCI-Expanded, Scopus)

107. 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 , cilt.25, sa.9, ss.1071-1077, 2008 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

108. 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 , cilt.28, sa.3, ss.209-212, 2008 (SCI-Expanded, Scopus)

109. 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 , cilt.146A, sa.6, ss.770-778, 2008 (SCI-Expanded, Scopus)

110. 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 , cilt.71, sa.6, ss.396-404, 2008 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

111. 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 , cilt.19, sa.3, ss.319-330, 2008 (SCI-Expanded, Scopus)

112. Megarbane syndrome

ÇAĞLAYAN A. O., DÜNDAR M.

Indian Journal of Human Genetics , cilt.14, sa.1, ss.27-29, 2008 (Scopus)

113. 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 , cilt.21, sa.1, ss.59-62, 2008 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

114. 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 , cilt.19, sa.3, ss.281-286, 2008 (SCI-Expanded, Scopus)

115. 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 , cilt.19, ss.319-330, 2008 (SCI-Expanded)

116. 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 , cilt.177, sa.2, ss.95-97, 2007 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

117. Molybdenum cofactor deficiency: Clinical features in a Turkish patient

Per H., Gumus H., Ichida K., ÇAĞLAYAN A. O., Kumandas S.

BRAIN & DEVELOPMENT , cilt.29, sa.6, ss.365-368, 2007 (SCI-Expanded, Scopus)

118. 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 , cilt.29, sa.2, ss.159-163, 2007 (ESCI, Scopus, TRDizin)

119. 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 , cilt.27, sa.4, ss.365-368, 2007 (SCI-Expanded, Scopus)

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

ÇAĞLAYAN A. O.

ERCIYES MEDICAL JOURNAL , cilt.29, sa.4, ss.263-267, 2007 (ESCI, Scopus, TRDizin)

121. 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 , cilt.22, sa.3, ss.229-232, 2007 (SCI-Expanded, Scopus)

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

ÇAĞLAYAN A. O.

ERCIYES MEDICAL JOURNAL , cilt.29, sa.2, ss.159-163, 2007 (ESCI, TRDizin)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 61

1. AKRONİMİN ÖTESİNDE: CHARGE SENDROMUNUN KLİNİK VE GENETİK SPEKTRUMUNUN GENİŞLETİLMESİ

HALİS M., KOCABEY M., SÜNCAK S., ÖZTÜRK YILMAZ Ş., GÜRSOY S., ÜLGENALP A., et al.

7. Uluslararası Katılımlı Çocuk Genetik Kongresi, Antalya, Türkiye, 6 - 09 Kasım 2025, ss.90, (Özet Bildiri)

2. Coexisting Genetic Disorders in Phenylketonuria: Clinical and Molecular Insights

Demirdöken E. D., Teke Kısa P., Kırmızıtaş M., Bilen M., Uzun Dinçtürk D., Kocabey M., et al.

17th Annual ICORD Meeting, İzmir, Türkiye, 14 - 16 Kasım 2025, ss.1-2, (Özet Bildiri)

3. FRAGILE X SYNDROME IN CHILDREN WITH DEVELOPMENTAL DELAY: A SIX-YEAR SINGLE-CENTER EXPERIENCE

SÜNCAK S., GÜRSOY S., ÇAĞLAYAN A. O., YİŞ U., HIZ A. S., ÖZTÜRK YILMAZ Ş., et al.

2. Uluslararası Katılımlı İzmir Pediatri Kongresi, İzmir, Türkiye, 11 - 13 Eylül 2025, ss.109, (Özet Bildiri)

4. Lysosomal Storage Disease Diagnosed in Adults with Hypoxic Ischaemic Encephalopathy: Fucosidosis Case Report

Demirdöken E. D., Teke Kısa P., Kocabey M., Giray Bozkaya Ö., Çağlayan A. O., Arslan N.

International Congress of Inborn Errors of Metabolism (ICIEM) 2025, Kyoto, Japonya, 2 - 06 Eylül 2025, (Yayınlanmadı)

5. Diagnostic journey for patients with infantile Krabbe Disease and late-onset Krabbe Disease

Bilen M., Teke Kısa P., Yıldız S., Er E., Olgaç Kılıçkaya M. A. B., Kocabey M., et al.

International Congress of Inborn Errors of Metabolism 2025, Kyoto, Japonya, 2 - 06 Eylül 2025, (Yayınlanmadı)

6. 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, İtalya, 24 - 27 Mayıs 2025, ss.1-2, (Tam Metin Bildiri)

7. Investigation of Lynch-related variants in breast cancer cases: Is there an overlooked association?

Özkan E., Kocabey M., Bora E., Ülgenalp A., Çağlayan A. O.

The European Human Genetics Conference 2025, Milan, İtalya, 24 - 27 Mayıs 2025, (Yayınlanmadı)

8. Re-evaluation of ATM variants reported as variants of uncertain significance in breast cancer patients: Impact of updated ClinGen guidelines

Aktan Karaca M. B., Kocabey M., Çankaya T., Ülgenalp A., Çağlayan A. O.

European Human Genetics Conference, Milan, İtalya, 24 - 27 Mayıs 2025, (Yayınlanmadı) Sürdürülebilir Kalkınma

9. HİPOKSİK İSKEMİK ENSEFALOPATİ TANISIYLA İZLENEN FUKOSİDOZ OLGUSU

Demirdöken E. D., Teke Kısa P., Kocabey M., Giray Bozkaya Ö., Çağlayan A. O., Arslan N.

IX. ULUSLARARASI KATILIMLI LİZOZOMAL HASTALIKLAR KONGRESİ, Gazimagusa, Kıbrıs (Kktc), 28 Nisan - 02 Mayıs 2025, ss.116, (Özet Bildiri)

10. İnfantil ve Geç Başlangıçlı Tip Krabbe Hastalarının Tanı Yolculuğu, Klinik ve Moleküler Bulguları

Bilen M., Teke Kısa P., Yıldız S., Er E., Bike Olgaç Kılıçkaya M. A., Kocabey M., et al.

IX. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Gazimagusa, Kıbrıs (Kktc), 28 Nisan - 02 Mayıs 2025, ss.59, (Özet Bildiri)

11. Fibröz Displazi ile Karışabilen Kemik Lezyonu Bulunan Piknodizostozis Olgusu

Demircan Coşkun B., Erden D., Demir K., Kocabey M., Çağlayan A. O., Abacı A., et al.

6. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Türkiye, 13 - 15 Şubat 2025, ss.123, (Özet Bildiri)

12. Obezitenin Nadir Bir Nedeni: Alström Sendromu

Halis M., Özkan E., Böber E., Çağlayan A. O., Giray Bozkaya Ö.

6. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Türkiye, 13 - 15 Şubat 2025, ss.143, (Tam Metin Bildiri)

13. 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, Türkiye, 4 - 08 Aralık 2024, ss.153, (Tam Metin Bildiri)

14. 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, Türkiye, 4 - 08 Aralık 2024, ss.152, (Tam Metin Bildiri)

15. 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, Türkiye, 4 - 08 Aralık 2024, ss.188, (Tam Metin Bildiri)

16. 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, Türkiye, 6 - 08 Aralık 2024, (Özet Bildiri)

17. Exploring Molecular Insights into Cortical Brain Malformations or Microcephaly in Turkey Through Whole-Exome Sequencing

Kasap B., Yalcinkaya C., ULUDAĞ ALKAYA D., GEYİK F., Gunes N., SALTIK S., et al.

57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Almanya, 1 - 04 Haziran 2024, cilt.32, ss.1079, (Özet Bildiri)

18. 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, Türkiye, 28 - 29 Kasım 2024, ss.1-5, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

19. 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, Türkiye, 28 - 29 Kasım 2024, ss.1-5, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

20. MUTYH Geninde Saptanan Varyantların Spektrumu ve Fenotipik Yansımaları

Yıldırım R. N., Bora E., Ülgenalp A., Çağlayan A. O.

2. Ulusal HematoOnkoGenetik Kongresi, İskele, Kıbrıs (Kktc), 4 - 07 Mayıs 2023, ss.23, (Özet Bildiri)

21. 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, Kıbrıs (Kktc), 4 - 07 Mayıs 2023, ss.30, (Özet Bildiri)

22. 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, Kıbrıs (Kktc), 4 - 07 Mayıs 2023, ss.24, (Özet Bildiri)

23. Klinik Önemi Bilinmeyen CHEK2 Geni Varyantlarının In Silico Değerlendirilmesi

Küçümen Y., Koşaca M., Gülen A., Yılmazbilek İ., Ülgenalp A., Karaca Erek E., et al.

“2. Uluslararası Katılımlı Ulusal HematoOnkoGenetik Kongresi”, İskele, Kıbrıs (Kktc), 4 - 07 Mayıs 2023, ss.29, (Özet Bildiri)

24. 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, Çek Cumhuriyeti, 20 - 24 Haziran 2023, ss.269, (Özet Bildiri)

25. 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, Türkiye, 17 - 21 Mayıs 2023, ss.343, (Özet Bildiri)

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Çağlayan A. O.

Uluslararası Proteomik Kongresi // 4. Ulusal Proteomik Kongresi, Türkiye, 14 Ekim 2022, (Özet Bildiri)

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ÖZKAN E., BORA E., ÜLGENALP A., ÇAĞLAYAN A. O.

15. Ulusal Tıbbi Genetik Kongresi, Türkiye, 09 Kasım 2022, (Özet Bildiri)

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Yaralı Y. A., Giray Bozkaya Ö., Ülgenalp A., Çağlayan A. O.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.78, (Özet Bildiri)

29. 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, Türkiye, 13 Kasım 2022, ss.65, (Özet Bildiri)

30. 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, Türkiye, 09 Kasım 2022, ss.76, (Özet Bildiri)

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Yıldırım R. N., Çankaya T., Giray Bozkaya Ö., Ülgenalp A., Çağlayan A. O.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 09 Kasım 2022, ss.170, (Özet Bildiri)

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YILDIZ G., TORUN BAYRAM M., ÇAĞLAYAN A. O., ÜLGENALP A., SOYLU A., KAVUKÇU S.

54th ESPN Annual Meeting, Ljubljana, Slovenia, Slovenya, 22 - 25 Haziran 2022, cilt.37, ss.2854-2855, (Özet Bildiri)

33. 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, Türkiye, 20 - 22 Şubat 2020, ss.78, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

34. 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, Türkiye, 20 - 22 Şubat 2020, ss.69, (Tam Metin Bildiri)

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

BORA E., YILDIZ BULUT A., ÖZPELİT E., Özcan E. E., ÇAĞLAYAN A. O.

14. Ulusal Tıbbi Genetik Kongresi, Türkiye, 20 - 22 Kasım 2020, (Tam Metin Bildiri)

36. 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 Şubat 2020, (Tam Metin Bildiri)

37. TUSC3 Mutasyonu Pozitif Mental Retarde Kardeşler, Vaka Takdimi

Özmansur E., PEDÜK Y., GÜMÜŞ H., ÇAĞLAYAN A. O., PER H.

5. Bahar Pediatri Günleri Kongresi, Türkiye, 5 - 07 Mart 2020, (Tam Metin Bildiri)

38. 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 Ekim 2019, ss.202-203, (Tam Metin Bildiri)

39. BRCA1/2 ve Ötesi: Panel Testleri

ÇAĞLAYAN A. O.

15. Ulusal Meme Hastalıkları Kongresi, Türkiye, 17 - 20 Ekim 2019, (Özet Bildiri)

40. Nörogenetik Hastalıklarda Güncel Tedaviler

ÇAĞLAYAN A. O.

2. Genetikte Güncel Tedaviler Sempozyumu, Türkiye, 5 - 06 Ekim 2019, (Özet Bildiri)

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

Alnak A., Kuşcu Özücer İ., ÇAĞLAYAN A. O., COŞKUN M.

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42. 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, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.315-316, (Özet Bildiri)