Expert PhD Tuğba KALAYCI

Publication Network

Published journal articles indexed by SCI, SSCI, and AHCI

Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.

Kalayci T., Altunoglu U., Çorbacioglu Esmer A., Avcı Ş., Sarac Sivrikoz T., Karaman B., et al.

American journal of medical genetics. Part A, vol.191, no.2, pp.498-509, 2023 (SCI-Expanded)

A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure

Berkay E. G., Şoroğlu C. V., Kalaycı T., Uyguner Z. O., Akçapınar G. B., Başaran S.

MOLECULAR GENETICS AND GENOMICS, vol.298, no.1, pp.253-272, 2023 (SCI-Expanded)

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies

Başaran S., Has R., Kalelioğlu İ. H., Saraç Sivrikoz T., Karaman B., Kırgız M., et al.

GENES, vol.13, no.12, pp.1-11, 2022 (SCI-Expanded)

Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome

Treimer E., Kalayci T., Schumann S., Suer I., Greco S., Schanze D., et al.

HUMAN MUTATION, vol.43, no.12, pp.1866-1871, 2022 (SCI-Expanded) Sustainable Development

Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13

Kaya M., Suer İ., Kalayci T., Karaman B., Ozturk Ş., Palanduz S.

SCOTTISH MEDICAL JOURNAL, vol.67, no.4, pp.173-177, 2022 (SCI-Expanded)

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

Saraç Sivrikoz T., Kalayci T., Senturk L., Karaman V., Kalelioglu I. H., Has R., et al.

PRENATAL DIAGNOSIS, vol.42, no.12, pp.1503-1510, 2022 (SCI-Expanded)

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

Iturrate A., Rivera-Barahona A., Flores C., Otaify G. A., Elhossini R., Perez-Sanz M. L., et al.

American Journal of Human Genetics, vol.109, no.10, pp.1828-1849, 2022 (SCI-Expanded)

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Yılmaz Gulec E., Turgut G. T., Gezdırıcı A., Karaman V., Ozturk F. N., Avcı S., et al.

Clinical genetics, vol.102, no.3, pp.201-217, 2022 (SCI-Expanded)

Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4

Kantaputra P., Güven Y., Aksu B., Kalayci T., Dogan C., Intachai W., et al.

Journal of the American Dental Association, vol.153, no.7, pp.668-676, 2022 (SCI-Expanded)

Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.

Kantaputra P., Guven Y., Kalayci T., Özer P., Panyarak W., Intachai W., et al.

Clinical genetics, vol.102, no.1, pp.66-71, 2022 (SCI-Expanded)

Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.

Turgut G. T., Altunoglu U., Sivrikoz T. S., Toksoy G., Kalayci T., Avci S., et al.

Clinical genetics, vol.101, no.4, pp.421-428, 2022 (SCI-Expanded)

A mysterious cause of recurrent acute liver dysfunction for over a decade

Dirim A. B., Kalayci T., Guzel Dirim M., Demir S., Cavus B., Cifcibasi Ormeci A., et al.

GASTROENTEROLOGY REPORT, vol.10, 2022 (SCI-Expanded)

Clinical Characteristics and Mutation Spectrum of Neurofibromatosis Type 1 in 27 Turkish Families

Sharifi S., Kalayci T., Palanduz S., Ozturk S., Cefle K.

BALKAN MEDICAL JOURNAL, vol.38, no.6, pp.365-373, 2021 (SCI-Expanded)

Re: Indication for Y Chromosome Microdeletion Analysis in Infertile Men: Is a New Sperm Concentration Threshold Needed?

Ortac M., Ergul R., Gurcan M., Kalayci T., Palanduz S., Aydin R., et al.

JOURNAL OF UROLOGY, vol.206, no.4, pp.1050, 2021 (SCI-Expanded)

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

Berkay E. G., Elkanova L., Kalayci T., ULUDAĞ ALKAYA D., Altunoglu U., Cefle K., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.185, no.8, pp.2488-2495, 2021 (SCI-Expanded)

Indication for Y Chromosome Microdeletion Analysis in Infertile Men: Is a New Sperm Concentration Threshold Needed?

Ortac M., Ergul R., Gurcan M., Kalayci T., Palanduz Ş., Aydin R., et al.

UROLOGY, vol.146, pp.113-117, 2020 (SCI-Expanded)

The first case of Dyssegmental Dysplasia Rolland-Desbuquois type with a variant in HSPG2

KALAYCI T., Balanda N., Ferreira C. R., Altunoglu U.

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.28, no.SUPPL 1, pp.237, 2020 (SCI-Expanded)

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Krab L., Marcos-Alcalde I., Assaf M., Balasubramanian M., Andersen J., Bisgaard A., et al.

Human genetics, vol.139, pp.575-592, 2020 (SCI-Expanded)

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Lee S., Chen D., Zaki M., Maroofian R., Houlden H., Di D., et al.

American journal of human genetics, vol.105, pp.844-853, 2019 (SCI-Expanded)

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Vandervore L., Schot R., Kasteleijn E., Oegema R., Stouffs K., Gheldof A., et al.

Brain : a journal of neurology, vol.142, pp.867-884, 2019 (SCI-Expanded)

Articles Published in Other Journals

Fetal Hand Anomalies: 18 Cases Diagnosed Between 2020-2022 from a Single Tertiary Care Center

ASLANGER A. D., SARAÇ SİVRİKOZ T., KALAYCI T., BAŞARAN S., UYGUNER Z. O.

Experimed, vol.12, no.3, pp.149-154, 2022 (Peer-Reviewed Journal)

CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE

ASLANGER A. D., KALAYCI T., KONUR E. N., GÜLEÇ Ç., AVCI Ş., ALTUNOĞLU U., et al.

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, vol.85, no.4, pp.501-510, 2022 (Scopus)

Association between HBA locus copy number gains and pathogenic HBB gene variants

Toksoy G., Akay N., Aghayev A., Karaman V., Avcı Ş., Kalaycı T., et al.

INTERNATIONAL JOURNAL OF MEDICAL BIOCHEMISTRY, vol.4, no.2, pp.91-95, 2021 (Peer-Reviewed Journal)

Refereed Congress / Symposium Publications in Proceedings

Frank-Ter Haar Sendromu Tanili 3 Olgu ve Literatür Derlemesi

Konur E. N., Aslanger A. D., Kalaycı T., Altunoğlu U., Karaman V., Yeşil Sayın G., et al.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.91

Osteogenezis Imperfekta Tanılı 15 Olgunun Moleküler Sonuçları

Hacer Ö., Aslanger A. D., Kalaycı T., Güleç Ç., Demir K., Toksoy G., et al.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 09 November 2022, pp.149

Epilepsinin Nadir, Nonkonvulzif Status Epileptikusun Nadir Olmayan Bir Sebebi: Ring 20 Kromozomu

Gezegen H., İlgezdi Kaya İ., Kalaycı T., Şirin İnan N. G., Karaman B., Bebek N., et al.

58. ulusal Nöroloji Kongresi, İstanbul, Turkey, 19 - 24 November 2022, pp.650

Prenatal Diagnosis Of 1P36 Deletion Syndrome Due To Pericentric Inversion On Chromosome 1: A Case Report

Yıldırım B. T., Kalaycı T., Bulut G., Saraç Sivrikoz T., Selçuk B. Ş., Başaran S., et al.

15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.25

Fetal Dönemde Kontraktürler Ile Seyreden Fenotiplerin Moleküler Tanısında Tüm Ekzom Dizileme Analizinin Katkısı

Turgut G. T., Altunoğlu U., Güleç Ç., Kalaycı T., Saraç Sivrikoz T., Toksoy G., et al.

15.ULUSLARARASI KATILIMLI, ULUSAL TIBBİ GENETİK KONGRESİ, Muğla, Turkey, 9 - 13 November 2022, pp.85

Trans Erkek; Gebelik Terminasyonu

Cenger C. D., Saraç Sivrikoz T., Polat I., Kalaycı T., Şenbaş Z. A., Arıcan N.

2.Uluslararası ve 18. Ulusal Adli Bilimler Kongresi, 14 - 17 October 2021, pp.414-416

Sitokrom P450 oksidoredüktaz eksikliğine bağlı konjenital adrenal hiperplazi hastalarının klinik ve laboratuvar özellikleri: Olgu serisi

Bayrak Demirel Ö., Baş F., Kalaycı T., Yıldız M., Konur E. N., Poyrazoğlu Ş., et al.

25. Ulusal Pediatrik Endokrinoloji Kongresi, Antalya, Turkey, 6 - 10 October 2021, pp.305-307

Three Nance Horan Syndrome Families from Turkey; Three Different Approaches for Molecular Diagnosis

Saraçoğlu H. P., Güven Y., Aksakal S. D., Kalaycı T., Altunoğlu U., Uyguner Z. O., et al.

European Human Genetics Conference, 28 - 31 August 2021, pp.1

MECP2 Spektrumundan Etkilenmiş 27 Olgunun Klinik ve Moleküler Bulguları

Kalaycı T., Aslanger A. D., Altunoğlu U., Toksoy G., Konur E. N., Avcı Ş., et al.

14. TIBBİ GENETİK KONGRESİ, 20 - 22 December 2020, vol.31, no.4, pp.53

Nadir Hastalıkların Tanı ve Takibinde Biyokimyasal Testlerin Tamamlayıcı Rolü: Olgu Sunumu

Gedikbaşı A., Toksoy G., Kalaycı T., Gelmez M. Y., Karaman B., Deniz G., et al.

Uluslararası Laboratuvar Tıbbı ve XX.Ulusal Klinik Biyokimya Kongresi, İstanbul, Turkey, 25 - 26 December 2020, pp.1

Alport sendromlu 15 olgunun klinik ve moleküler bulguları

Aslanger A. D., Yürük Yıldırım Z. N., Toksoy G., Aksu B., Durmaz D., Göksu Çetinkaya A. P., et al.

14. TIBBİ GENETİK KONGRESİ, İstanbul, Turkey, 20 - 22 December 2020, vol.31, no.4, pp.49

Steroide duyarlı kronik anemisi ve osteosklerozu olan erişkin olguda moleküler tanının klinik izleme etkisi

Sharifi S., Kalaycı T., Kaya M., Suer İ., Öztürk Ş., Çefle K., et al.

14. Ulusal Tıbbi Genetik Kongresi (Uluslararası katılımlı), İstanbul, Turkey, 20 - 23 November 2020, pp.37

46,XX,t(8;9)(q12;q12) translokasyon taşıyıcısı tekrarlayan gebelik kayıp öykülü olgu sunumu

Suer İ., Kaya M., Sharifi S., Kalaycı T., Öztürk Ş., Çefle K., et al.

14. Ulusal Tıbbi Genetik Kongresi (Uluslararası katılımlı), İstanbul, Turkey, 20 November - 22 December 2020, pp.89

Fetal skeletal dysplasia experience of a single tertiary referral center in Istanbul, Turkey

Kalaycı T., Altunoğlu U., Saraç Sivrikoz T., Çorbacıoğlu A., Avcı Ş., Has R., et al.

14th International Skeletal Dysplasia Society Meeting, Oslo, Norway, 11 - 14 September 2019, pp.35

LAMB2 Gen Mutasyonu Saptanan Dört Hasta Ve Dört Farklı Klinik Durum

Öner H. A., Toksoy G., Yürük Yıldırım Z. N., Yılmaz A., Çam Delebe E. Ö., Göksu Çetinkaya A. P., et al.

Uluslararası Katılımlı 10. Çocuk Nefroloji Kongresi, Muğla, Turkey, 1 - 04 May 2019, pp.158

Clinical and Molecular Characterization of Stuve-Wiedmann Syndrome in Six Cases

Şentürk L., Güleç Ç., Kayserili Karabay H., Kalaycı T., Uyguner Z. O., Altunoğlu U.

13. Uluslarası Katılımlı Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 7 - 11 November 2018, pp.123

Clinical and molecular findings of seven Turkish nonphotosensitive trichothiodystrophy patients with two novel mutations in MPLKIP

Kalaycı T., Altunoğlu U., Karaman B., Uyguner Z. O., Kayserili Karabay H.

50th European Society of Human Genetics Conference, Kobenhavn, Denmark, 27 - 30 May 2017, pp.394

Whole exome sequencing in fetal structural abnormalities: experience of 8 cases

Altunoglu U., Kalayci T., Kalelioglu I. H., Kayserili H.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.166-167

Clinical and molecular findings of seven Turkish non-photosensitive trichothiodystrophy patients with two novel mutations in MPLKIP

Kalayci T., Altunoglu U., Karaman B., Uyguner Z., Kayserili H.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.506

idic(Y)(q11.2) ABNORMALITY IN CASES WITH MIXT GONADAL DYSGENESIS AND INFERTILITY

Kaya M., Suer İ., Kalaycı T., Karaman B., Dön B., Bağatır Ozan G., et al.

Erciyes Medical Genetics Days, Kayseri, Turkey, 7 - 10 March 2018, pp.16

New Fetal Case of Blomstrand Chondrodysplasia and Review of the Literature

Kalaycı T., Altunoğlu U., Şentürk L., Uyguner Z. O., Kayserili Karabay H.

12th International Skeletal Dysplasia Society Meeting, İstanbul, Turkey, 11 - 13 September 2015

Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings