Dr. Öğr. Üyesi CEREN ALAVANDA

1. **Benign proximal tubular albuminuria due to AMN mutation: A challenging presentation of Imerslund-Gräsbeck syndrome**

Pul S., GÜVEN S., ÇİÇEK N., Alavanda C., ATA P., GÖKCE İ.

PEDIATRIC NEPHROLOGY , cilt.41, sa.4, ss.999-1001, 2026 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

2. Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures

KAYA G., YAZICI G. N., ALAVANDA C., KÜÇÜK Ö. S.

Italian Journal of Anatomy and Embryology , cilt.129, sa.2, ss.13-28, 2026 (Scopus)

3. Clinical course of proteinuria due to cubilin variants: a large multicenter pediatric cohort

ÇİÇEK N., Alavanda C., Pınarbası A. S., Inal A., ATMIŞ B., Kezer S., et al.

Pediatric Nephrology , 2026 (SCI-Expanded, Scopus)

4. Agarose-based long-range polymerase chain reaction assay for genotyping Turkish patients with Friedreich's ataxia

Alavanda C., Uluc K., Koytak P. K., TÜRKDOĞAN D., ARMAN A.

MARMARA MEDICAL JOURNAL , cilt.39, sa.1, 2026 (ESCI, Scopus, TRDizin)

5. Predictors of kidney survival in children with autosomal recessive polycystic kidney disease

ÇİÇEK N., GÖKCE İ., Alavanda C., GÜVEN S., KAYA M., Pul S., et al.

CLINICAL AND EXPERIMENTAL NEPHROLOGY , 2025 (SCI-Expanded, Scopus)

6. Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia

Eltan M., Alavanda C., YAVAŞ ABALI Z., Tosun B. G., Kurt I., Kirkgoz T., et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM , cilt.110, sa.9, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

7. Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings

Alavanda C., Demir S., GÜVEN S., Eltan M., BİLGİÇ ELTAN S., Sefer A. P., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.17, sa.2, ss.126-135, 2025 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

8. **Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome**

Alavanda C., ARSLAN ATEŞ E., Demir S., Polat H., Hanoglu O., ARMAN A., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.197, sa.6, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

9. Genetic Characterization of Turkish Patients with Pituitary Neuroendocrine Tumors

Alavanda C., Sonmez O., GEÇKİNLİ B. B., BAYRAKLI F., GÜNEY A. İ.

TURKISH NEUROSURGERY , cilt.35, sa.2, ss.309-320, 2025 (SCI-Expanded, Scopus, TRDizin)

10. Secondary Findings in Turkish Pituitary Neuroendocrine Patients

Alavanda C., Biber A., Altas B., Corekci F. B., Boz F., Acar Z. S., et al.

CLINICAL AND EXPERIMENTAL HEALTH SCIENCES , cilt.14, sa.4, ss.1021-1027, 2024 (ESCI, TRDizin) Sürdürülebilir Kalkınma

11. Comprehensive Assessment of Dermatologic and Dysmorphic Manifestations in Patients With Down Syndrome

Kaya G., Alavanda C.

SKIN RESEARCH AND TECHNOLOGY , cilt.30, sa.10, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

12. Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye

Ciki K., Alavanda C., Ceylan E. I., Tanyalcin T., KILAVUZ S.

TURKISH JOURNAL OF PEDIATRICS , cilt.66, sa.5, ss.608-617, 2024 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

13. **Novel Mutation in the HSD17B10 Gene Accompanied by Dysmorphic Findings in Female Patients**

Ciki K., Alavanda C., Kara M.

MOLECULAR SYNDROMOLOGY , cilt.15, sa.3, ss.211-216, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

14. Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye

Alavanda C., Ceylan E. I., KILAVUZ S., Ciki K.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.37, sa.6, ss.543-552, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

15. Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central

Kirkgoz T., Kaygusuz S. B., ALAVANDA C., Helvacioglu D., YAVAŞ ABALI Z., Tosun B. G., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.36, sa.4, ss.401-408, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

16. **Novel, homozygous RAB3GAP1 c.2606+1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome**

Geckinli B., TÜRKYILMAZ A., ALAVANDA C., Sager G., ARSLAN ATEŞ E., SÖYLEMEZ M. A., et al.

CLINICAL DYSMORPHOLOGY , cilt.32, sa.2, ss.55-61, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

17. Clinical and genetic characterization of children with cubilin variants

ÇİÇEK N., Alpay H., GÜVEN S., Alavanda C., Turkkan O. N., Pul S., et al.

PEDIATRIC NEPHROLOGY , cilt.38, sa.4, ss.1381-1385, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

18. Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia

KİRAZ A., SEZER Ö., ALEMDAR A., Canbek S., Duman N., BİŞGİN A., et al.

JOURNAL OF MEDICAL VIROLOGY , cilt.95, sa.2, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

19. Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population

DUMAN N., Tuncel G., BİŞGİN A., TUĞ BOZDOĞAN S., Sag S. O., GÜL Ş., et al.

JOURNAL OF MEDICAL VIROLOGY , cilt.94, sa.11, ss.5225-5243, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

20. Etiological analysis of hypophosphatemia: A single-center experience

Eltan M., Alavanda C., Abali Z. Y., Bayramoglu E., Kaygusuz S. B., Helvacioglu D., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.95, sa.SUPPL 2, ss.141-142, 2022 (SCI-Expanded, Scopus)

21. Phenotypic and genotypic characteristics of children with Bartter

GÜVEN S., GÖKCE İ., ALAVANDA C., ÇİÇEK N., Demirci E. B., Sak M., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.64, sa.5, ss.825-838, 2022 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

22. Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity

DEMİRCİOĞLU S., Mumm S., ALAVANDA C., Kaygusuz B. S., Tosun B. G., ARMAN A., et al.

JBMR PLUS , cilt.6, sa.8, 2022 (ESCI, Scopus) Sürdürülebilir Kalkınma

23. Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia

GÜVEN S., GÖKCE İ., ALAVANDA C., ÖZTÜRK HİŞMİ B., ÇİÇEK N., Demirci E. B., et al.

TURKISH ARCHIVES OF PEDIATRICS , cilt.57, sa.4, ss.432-440, 2022 (ESCI, Scopus, TRDizin) Sürdürülebilir Kalkınma

24. **Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features**

Eltan M., YAVAŞ ABALI Z., TÜRKYILMAZ A., GÖKCE İ., Abali S., ALAVANDA C., et al.

CALCIFIED TISSUE INTERNATIONAL , cilt.110, sa.4, ss.441-450, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

25. Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

TÜRKYILMAZ A., ALAVANDA C., ARSLAN ATEŞ E., GEÇKİNLİ B. B., Polat H., Gokcu M., et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS , cilt.39, sa.3, ss.695-710, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

26. ***Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel* APC *Mutations***

ARSLAN ATEŞ E., ALAVANDA C., Demir S., Keklikkiran C., Attaallah W., ÖZDOĞAN O. C., et al.

TURKISH JOURNAL OF GASTROENTEROLOGY , cilt.33, sa.2, ss.81-87, 2022 (SCI-Expanded, Scopus, TRDizin) Sürdürülebilir Kalkınma

27. Germline Screening of Cancer-Related Genes in Turkish Ovarian Cancer Patients

ARSLAN ATEŞ E., Alavanda C., GEÇKİNLİ B. B., GÜNEY A. İ., GÜNEL T.

EXPERIMED , cilt.12, sa.3, ss.181-187, 2022 (ESCI, Scopus, TRDizin) Sürdürülebilir Kalkınma

28. THE FIRST CASE OF AMYLOIDOSIS DUE TO HOMOZYGOUS P.V377I MUTATION IN A PATIENT WITH HYPERIMMUNOGLOBULIN D SYNDROME

Bodur E. D., GÖKCE İ., Sozeri B., Alavanda C., Farmanli O., ATA P., et al.

PEDIATRIC NEPHROLOGY , cilt.36, sa.10, ss.3448, 2021 (SCI-Expanded, Scopus)

29. The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia

TÜRKYILMAZ A., Kurnaz E., ALAVANDA C., Yarali O., Kartal Baykan E., YAVUZ D., et al.

METABOLIC SYNDROME AND RELATED DISORDERS , cilt.19, sa.6, ss.340-346, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

30. **Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family**

ARSLAN ATEŞ E., TÜRKYILMAZ A., Delil K., ALAVANDA C., SÖYLEMEZ M. A., GEÇKİNLİ B. B., et al.

MOLECULAR SYNDROMOLOGY , cilt.12, sa.3, ss.179-185, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

31. Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature

TÜRKYILMAZ A., GEÇKİNLİ B. B., ALAVANDA C., ARSLAN ATEŞ E., Buyukbayrak E. E., Eren S. F., et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS , cilt.25, sa.6, ss.445-451, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

32. Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature

Kaygusuz S. B., ALAVANDA C., Kirkgoz T., Eltan M., YAVAŞ ABALI Z., Helvacioglu D., et al.

CALCIFIED TISSUE INTERNATIONAL , cilt.108, sa.5, ss.576-586, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

33. **Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant**

TÜRKYILMAZ A., GEÇKİNLİ B. B., ALAVANDA C., ARSLAN ATEŞ E., ARMAN A.

CLINICAL DYSMORPHOLOGY , cilt.30, sa.1, ss.10-16, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

34. Differential diagnosis of classical Bartter syndrome and Gitelman syndrome: Do we need genetic analysis?

GÜVEN S., GÖKCE İ., ALAVANDA C., ÇİÇEK N., Demirci E. B., Sak M., et al.

MARMARA MEDICAL JOURNAL , cilt.34, sa.3, ss.254-259, 2021 (ESCI, Scopus, TRDizin) Sürdürülebilir Kalkınma

35. FGF3-Related Phenotypes: A Study of LAMM Syndrome and Otodental Dysplasia Patients with Two Novel Mutations in FGF3 Gene

TÜRKYILMAZ A., GEÇKİNLİ B. B., ALAVANDA C., Zengin G., ARSLAN ATEŞ E., ARMAN A.

INTERNATIONAL JOURNAL OF HUMAN GENETICS , cilt.20, sa.4, ss.179-190, 2020 (SCI-Expanded) Sürdürülebilir Kalkınma

36. Revealing novel splicing mutations in RAB3GAP1 gene causing Warburg Micro syndrome and a case including microduplication of 3q29

GEÇKİNLİ B. B., TÜRKYILMAZ A., ALAVANDA C., Taslidere H., Sager G., ARSLAN ATEŞ E., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.1012-1013, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

37. Expanding of mutation spectrum in Muscular Dystrophies: A Turkish Cohort

ALAVANDA C., Polat H., Ilker A., Ates E. A., SÖYLEMEZ M. A., GEÇKİNLİ B. B., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.SUPPL 1, ss.435-436, 2020 (SCI-Expanded, Scopus)

38. A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

Eltan M., ALAVANDA C., YAVAŞ ABALI Z., Ergenekon P., YALINDAĞ M. N., Sakar M., et al.

CALCIFIED TISSUE INTERNATIONAL , cilt.107, sa.1, ss.96-103, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

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