Yayınlar & Eserler

Yayın Ağı
Makaleler 10
Tümü (10)
SCI-E, SSCI, AHCI (10)
SCI-E, SSCI, AHCI, ESCI (10)
Scopus (10)

1. A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis

KİRAZ A., Erdogan M., Balta B., GÜMÜŞ H., Mutlu M. B., MAMMADOVA N., et al.
Neurogenetics , cilt.26, sa.1, 2025 (SCI-Expanded, Scopus) identifier identifier identifier identifier

2. Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

Hu L., van der Sluis R. M., Castelino K. B., Zhang B., Ronit A., Zillinger T., et al.
Nature Communications , cilt.16, sa.1, 2025 (SCI-Expanded, Scopus) identifier identifier identifier identifier

3. A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity

Al Qureshah F., Le Pen J., de Weerd N. A., Moncada-Velez M., Materna M., Lin D., et al.
Journal of Experimental Medicine , cilt.222, sa.2, 2025 (SCI-Expanded, Scopus) identifier identifier identifier

4. The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution

Özçelik F., Dundar M., Yıldırım A., Henehan G., Vicente O., Sanchez-Alcazar J. A., et al.
FUNCTIONAL & INTEGRATIVE GENOMICS , cilt.24, sa.4, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

5. Deciphering the host genetic factors conferring susceptibility to severe COVID-19 using exome sequencing

Uslu K., Ozcelik F., Zararsiz G., Eldem V., Cephe A., Sahin I. O., et al.
GENES AND IMMUNITY , cilt.25, sa.1, ss.14-42, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

6. A case of autoimmune lymphoproliferative syndrome with a novel de novo FAS variant

Özçelik F., Aslan K., Gök V., Ari M. B., Özcan A., Eken A., et al.
Pediatric Hematology and Oncology , cilt.41, sa.4, ss.301-309, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

7. PPM1K defects cause mild maple syrup urine disease: The second case in the literature

ÖZÇELİK F., ARSLAN S., Ozguc Caliskan B., KARDAŞ F., ÖZKUL Y., DÜNDAR M.
American Journal of Medical Genetics, Part A , cilt.191, sa.5, ss.1360-1365, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

8. A Case of Short Stature Caused by a Mutation in the ACAN Gene

KARATAŞ E., DEMİR M., ÖZÇELİK F., KARA L., Akyurek E., BERBER U., et al.
MOLECULAR SYNDROMOLOGY , cilt.14, sa.2, ss.123-128, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

9. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

DÜNDAR M., FAHRİOGLU U., Yildiz S. H., Bakir-Gungor B., TEMEL Ş. G., AKIN H., et al.
FUNCTIONAL & INTEGRATIVE GENOMICS , cilt.22, sa.3, ss.291-315, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

10. A very rare cause of arthrogryposis multiplex congenita: a novel mutation in TOR1A

SARIKAYA E., ÖZÇELİK F., GÜL ŞİRAZ Ü., HATİPOĞLU N., GÜNEŞ T., DÜNDAR M.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.6, ss.845-850, 2022 (SCI-Expanded, Scopus) identifier identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 1

1. Self Mutilasyon Etiyolojisinde Nadir Vaka: PRX ve SCN9A Mutasyonu Bir Arada

Doğan Y. E., Canpolat M., Özçelik F., Öztürk S., Özbek Tezcan F., Dündar M.
65.Türkiye Milli Pediatri Derneği Kongresi, Antalya, Türkiye, 3 - 07 Kasım 2021, ss.77, (Özet Bildiri)
Metrikler

Yayın

13

Yayın (WoS)

10

Yayın (Scopus)

10

Atıf (WoS)

14

H-İndeks (WoS)

1

Atıf (Scopus)

32

H-İndeks (Scopus)

3

Atıf (Scholar)

23

H-İndeks (Scholar)

2

Proje

2
BM Sürdürülebilir Kalkınma Amaçları