Yayınlar & Eserler

Yayın Ağı
Makaleler 9
Tümü (9)
SCI-E, SSCI, AHCI (8)
SCI-E, SSCI, AHCI, ESCI (9)
ESCI (1)
Scopus (9)

1. ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye

TEMEL Ş. G., PİR M. S., Yavas C., Sahin F. I., ÖZEMRİ SAĞ Ş., Terzi Y. K.
International Journal of Molecular Sciences , cilt.27, sa.3, 2026 (SCI-Expanded, Scopus) identifier identifier

2. AFFIPred: AlphaFold2 structure-based Functional Impact Prediction of missense variations

Pir M. S., TİMUÇİN E.
PROTEIN SCIENCE , cilt.34, sa.2, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

3. Retrospective Investigation of the Frequency of Pathogenic and Likely Pathogenic Variants in 81 Genes Associated with ACMG Secondary Findings from 1600 Clinical Exome Sequencing

TEMEL Ş. G., PİR M. S., Sahin F., ÖZEMRİ SAĞ Ş., Terzi Y. K.
EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.32, ss.1196, 2024 (SCI-Expanded, Scopus) identifier

4. CilioGenics: an integrated method and database for predicting novel ciliary genes

Pir M. S., Begar E., Yenisert F., Demirci H. C., Korkmaz M. E., Karaman A., et al.
NUCLEIC ACIDS RESEARCH , cilt.52, sa.14, ss.8127-8145, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

5. Matching variants for functional characterization of genetic variants

Cevik S., Zhao P., Zorluer A., Pir M. S., Bian W., Kaplan O.
G3-GENES GENOMES GENETICS , cilt.13, sa.12, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

6. WDR31 displays functional redundancy with GTPase-activating proteins (GAPs) ELMOD and RP2 in regulating IFT complex and recruiting the BBSome to cilium

Cevik S., Peng X., Beyer T., Pir M. S., Yenisert F., Woerz F., et al.
LIFE SCIENCE ALLIANCE , cilt.6, sa.8, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

7. ConVarT: Search Engine for Missense Variants Between Humans and Other Organisms

Pir M. S., Cevik S., Kaplan O. I.
CURRENT PROTOCOLS , cilt.2, sa.11, 2022 (ESCI, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

8. ConVarT: a new search engine for orthologous variants for functional inference of human genetic variants

Pir M. S., Bilgin H. I., Sayici A., Coskun F., Torun F. M., Zhao P., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.30, sa.SUPPL 1, ss.504-505, 2022 (SCI-Expanded, Scopus) identifier

9. ConVarT: a search engine for matching human genetic variants with variants from non-human species

Pir M. S., Bilgin H., Sayici A., Torun F. M., Zhao P., Kang Y., et al.
NUCLEIC ACIDS RESEARCH , cilt.50, sa.D1, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 1

1. High frequency of the rare CFTR variant, c.1545_1546del, in Georgian cystic fibrosis patients

TEMEL Ş. G., PİR M. S., Sahin F., ÖZEMRİ SAĞ Ş., Terzi Y. K.
57th Conference of the European-Society-of-Human-Genetics (ESHG), Berlin, Almanya, 1 - 04 Haziran 2024, cilt.32, ss.1196-1197, (Özet Bildiri) identifier
Metrikler

Yayın

10

Yayın (WoS)

10

Yayın (Scopus)

9

Atıf (WoS)

25

H-İndeks (WoS)

2

Atıf (Scopus)

29

H-İndeks (Scopus)

3
BM Sürdürülebilir Kalkınma Amaçları