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) identifier identifier identifier

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) identifier identifier identifier

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) identifier

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 identifier identifier identifier identifier

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) identifier identifier

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 identifier identifier identifier
Metrikler

Yayın

9

Yayın (WoS)

6

Yayın (Scopus)

6

Atıf (WoS)

4

H-İndeks (WoS)

1

Atıf (Scopus)

12

H-İndeks (Scopus)

3

Atıf (Scholar)

1

H-İndeks (Scholar)

1

Açık Erişim

1
BM Sürdürülebilir Kalkınma Amaçları