Publications & Works

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Journal articles indexed in SCI, SSCI, and AHCI

Further Evidence for <i>RFWD3</i> Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature

KOCAGİL S., ŞAFAK İ. N., SARAÇ E., AYDIN C., ARTAN S., KIREL B.
MOLECULAR SYNDROMOLOGY , vol.14, pp.509-515, 2023 (SCI-Expanded) identifier identifier 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
Papers Presented at Peer-Reviewed Scientific Conferences

Okur Chung Nörogelişimsel Sendromlu İki Olgu: Novel ve Rekürren İki Varyant ile Fenotipik Spektruma Bakış

Saraç E., Tosumoğlu E., Susam E.
16. Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 4 - 08 December 2024, (Unpublished)

Cohen Sendromu Tanısı Alan Dört Olgu Sunumu

Çelik U. O., Kocagil S., Saraç E., Kılıç B., Erzurumluoğlu Gökalp E.
16. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 4 - 08 December 2024, pp.119-122, (Full Text) Creative Commons License

Expanding the phenotypic sprectrum of intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP)

ÇİLİNGİR O., SARAÇ E., SUSAM E., ÖZBAKIR D. H., ERZURUMLUOĞLU GÖKALP E., KOCAGİL S.
57th European Society of Human Genetics (ESHG) Conference, Germany, 1 - 04 June 2024, vol.32, pp.1231-1841, (Summary Text)

Two Siblings Harbouring Two Nonsense Variants: Kaufman Oculocerebrofacial Syndrome With Variable Intrafamilial Expression

Saraç E., Çarman K. B., Durak Aras B., Artan S.
EuroDysmorpho 2023, Lisbon, Portugal, 13 - 16 September 2023, pp.1, (Summary Text)

Complete paternal isodisomy of chromosome 15 in a patient with atypical presentation of Angelman syndrome

Çilingir O., Saraç E., Aynacı S., Kocagil S.
14th European Cytogenomics Conference, Montpellier, France, 1 - 04 July 2023, pp.48, (Summary Text)

Fanconi Aplastik Anemili 5 Olgu: FANCA, ERCC4, RFWD3 Genlerinde 3 Novel/Nadir Varyant

Özbakır D. H., Saraç E., Susam E., Kocagil S., Aynacı S., Kırel B., et al.
2. Ulusal HematoOnkoGenetik Kongresi, İskele, Cyprus (Kktc), 4 - 07 May 2023, pp.52, (Summary Text)

Trizomi 21 Tanılı Bir Yenidoğanda Geçici Anormal Miyelopoez ve GATA1 Geninde İki Somatik Varyant

Saraç E., Özdemir Z. C., Tosumoğlu E., Çilingir O.
2. Ulusal HematoOnkoGenetik Kongresi, Gazimagusa, Cyprus (Kktc), 4 - 07 May 2023, pp.95, (Summary Text) Creative Commons License

Farklı Yapısal Y Kromozom Anomalisi Saptanan Olgularda Klinik ve Genetik Sonuçların İncelenmesi

Tosumoğlu E., Saraç E., Üre İ., Kocagil S.
15. Ulusal Tıbbi Genetik Kongres, Muğla, Turkey, 9 - 13 November 2022, pp.240, (Full Text)

A novel LRP5 gene variant in a patient with Osteoporosis-Pseudoglioma syndrome

Saraç E., Kırel B., Çilingir O., Artan S.
7.Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Turkey, 26 - 28 May 2022, pp.104-105, (Summary Text) Creative Commons License

Atipik bulguları olan Smith-Magenis sendromlu bir olgu sunumu

Saraç E., Özbakır D. H., Kocagil S., Erzurumluoğlu Gökalp E., Çilingir O., Durak Aras B., et al.
14. ULUSAL TIBBİ GENETİK KONGRESİ’xx’xxULUSLARAARSI KATILIMLI’xx’xx, Eskişehir, Turkey, 20 - 22 November 2020, vol.31, pp.92, (Summary Text)
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