Yayınlar & Eserler

Yayın Ağı
Makaleler 7
Tümü (7)
SCI-E, SSCI, AHCI (5)
SCI-E, SSCI, AHCI, ESCI (6)
ESCI (1)
Scopus (6)

1. GREGoR: accelerating genomics for rare diseases

Dawood M., Heavner B., Wheeler M. M., Ungar R. A., LoTempio J., Wiel L., et al.
Nature , cilt.647, sa.8089, ss.331-342, 2025 (SCI-Expanded, Scopus)

2. Co-occurrence of homozygous ALMS1 variant, 17q11.2 mosaic and germline deletions, and VSX2 nonsense variant in a single family

Mammadova N., Yildirim A. B., Sevim D. G., Bozkurt T., SEZERMAN O. U., Dundar M.
MOLECULAR BIOLOGY REPORTS , cilt.52, sa.1, 2025 (SCI-Expanded, Scopus)

3. Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets.

Bozkurt-Yozgatli T., Lun M. Y., Bengtsson J. D., Sezerman U., Chinn I. K., Coban-Akdemir Z., et al.
European journal of human genetics : EJHG , 2025 (SCI-Expanded, Scopus)

4. Oral Presentation Abstracts

Yilmaz L. N., Bozkurt Yozgatli T., Özçelik F., Yıldırım A., Sezerman O. U., Dündar M.
EUROBIOTECH JOURNAL , cilt.9, sa.1, ss.30, 2025 (ESCI)

5. Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

Bozkurt-Yozgatli T., Pehlivan D., Gibbs R. A., SEZERMAN O. U., Posey J. E., Lupski J. R., et al.
BMC MEDICAL GENOMICS , cilt.17, sa.1, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

6. The impact of the Turkish population variome on the genomic architecture of rare disease traits

Coban-Akdemir Z., Song X., Ceballos F. C., Pehlivan D., Karaca E., Bayram Y., et al.
Genetics in Medicine Open , cilt.2, 2024 (Scopus)

7. Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

Bozkurt T., ALANAY Y., ISIK U., SEZERMAN O. U.
BMC MEDICAL GENOMICS , cilt.14, sa.1, 2021 (SCI-Expanded, Scopus) Creative Commons License Sürdürülebilir Kalkınma
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 7

1. Rare chromosomal inversions as a hidden cause of genetic diseases: Investigation of the potential impact of inversions in population datasets

BOZKURT YOZGATLI T., Kondo N., Lun M. Y., Bengtsson J. D., SEZERMAN O. U., K. Chinn I., et al.
European Society of Human Genetics Conference, Gothenburg, İsveç, 13 - 16 Haziran 2026, (Özet Bildiri)

2. The Role of a Deep Intronic Variant in the SHH Gene in the Molecular Pathogenesis of Acropectoral Syndrome

Yılmaz L. N., BOZKURT YOZGATLI T., Özçelik F., Yıldırım A., SEZERMAN O. U., DÜNDAR M.
European Biotechnology Congress, İstanbul, Türkiye, 03 Ekim 2024, (Özet Bildiri)

3. Chromosomal inversions as a hidden cause of genetic diseases: A case study and comprehensive analysis of inversions across diverse datasets

Bozkurt Yozgatlı T., Lun M. Y., Bengtsson J. D., Sezerman O. U., Chinn I. K., Coban Akdemir Z., et al.
GENOMICS OF RARE DISEASE 2025, Cambridge, İngiltere, 9 - 11 Nisan 2025, (Yayınlanmadı)

4. Enhanced Classification of Protein-Truncating Variants Reveals the Need for Improved Predictive Tools

Coban Akdemir Z., Xu J., Klonowski J., Bozkurt Yozgatli T., Egab I., Posey ., et al.
ASHG 2024 Annual Meeting, Colorado, Amerika Birleşik Devletleri, 5 - 09 Kasım 2024, ss.730-731, (Özet Bildiri)

5. Comparison of chromosomal inversions in three different datasets

BOZKURT YOZGATLI T., Mehaffey M. G., SEZERMAN O. U., Carvalho C. M., Coban-Akdemir Z.
74th American Society of Human Genetics Annual Meeting, Los-Angeles, Şili, 25 Ekim 2022, (Özet Bildiri)

6. Reanalysis of trio whole exome sequencing (WES) data with a novel variant prioritization workflow reveals a de-novo missense variant in EBF3 gene associated with hypotonia and developmental delay

BOZKURT YOZGATLI T., Bakır Güngör B., Doğan M., Gümüş H., SEZERMAN O. U., DÜNDAR M.
V. International Erciyes Medical Genetics Days Congress, Nevşehir, Türkiye, 20 Şubat 2020, (Özet Bildiri)

7. Identification of a Novel Missense Variant in the PRKAR1A Gene and Its Pathogenicity Mechanism

BOZKURT YOZGATLI T., Gerlevik U., SEZERMAN O. U.
The 12th International Symposium on Health Informatics and Bioinformatics, İzmir, Türkiye, 17 Ekim 2019, (Özet Bildiri)
Metrikler

Yayın

16

Yayın (WoS)

6

Yayın (Scopus)

6

Atıf (WoS)

22

H-İndeks (WoS)

3

Atıf (Scopus)

33

H-İndeks (Scopus)

4

Atıf (Scholar)

1

H-İndeks (Scholar)

1

Açık Erişim

1
BM Sürdürülebilir Kalkınma Amaçları
SDG 3: AMAÇ 3: SAĞLIKLI BİREYLER
SDG 7: AMAÇ 7: ERİŞİLEBİLİR VE TEMİZ ENERJİ
SDG 16: AMAÇ 16: BARIŞ VE ADALET