Yayınlar & Eserler

ATLAS Yayın Analitiği
Makaleler 11
Tümü (11)
SCI-E, SSCI, AHCI (10)
SCI-E, SSCI, AHCI, ESCI (11)
ESCI (1)
Scopus (11)
TRDizin (2)

1. Recurrent CNVs in constitutional CMA: a ClinGen-anchored single-center postnatal and prenatal experience.

Satkın N. B., Atlı E., Yalcintepe S., Çelik K. M., Gürkan H.
Frontiers in genetics , cilt.17, ss.1960791, 2026 (SCI-Expanded, Scopus)

2. Understanding the dynamic behavior of wild-type and mutant LARS1 proteins: insight from comparative molecular dynamics simulations

TUNCA ALPARSLAN G., Satkin N. B., Kamer İ., Tekin İ. M.
Journal of Biomolecular Structure and Dynamics , 2026 (SCI-Expanded, Scopus)

3. The Importance of Genetic Diagnosis in Rare Diseases

GÜRKAN H., Satkın N. B.
BALKAN MEDICAL JOURNAL , cilt.42, sa.2, ss.92-93, 2025 (SCI-Expanded, Scopus, TRDizin) Creative Commons License Sürdürülebilir Kalkınma

4. Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings

Çepni E., KAMER N. B., Moheb L. A., Rocha M. E., Kayserili H.
American Journal of Medical Genetics, Part A , cilt.188, sa.4, ss.1226-1232, 2022 (SCI-Expanded, Scopus)

5. HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES

KARAMAN B., Ergin S., Kayserili H., Yüksel A., KAMER N. B., Kalelioǧlu I. H., et al.
Istanbul Tip Fakultesi Dergisi , cilt.84, sa.2, ss.186-191, 2021 (ESCI, Scopus, TRDizin)

6. ARRAY-COMPARATIVE GENOMIC HYBRIDIZATION RESULTS IN CLINICALLY AFFECTED CASES WITH APPARENTLY BALANCED CHROMOSOMAL REARRANGEMENTS

Satkin N. B., KARAMAN B., Ergin S., Kayserili H., KALELİOĞLU İ. H., HAS R., et al.
BALKAN JOURNAL OF MEDICAL GENETICS , cilt.23, sa.2, ss.25-34, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

7. Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings Ultraschallbefunde und follow-up-Untersuchungen nach 101 auffälligen nicht-invasiven Pranataltests (NIPT)

Basaran S., HAS R., Kalelioglu I. H., KARAMAN B., Kirgiz M., Dehgan T., et al.
Ultraschall in der Medizin , cilt.41, sa.2, ss.175-185, 2020 (SCI-Expanded, Scopus)

8. CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Schaffer A. E., Eggens V. R., ÇAVDAR Z., Reuter M. S., Scott E., Coufal N. G., et al.
CELL , cilt.157, sa.3, ss.651-663, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

9. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2

Aslanger A. D., Altunoglu U., Aslanger E., KAMER N. B., UYGUNER Z. O., Kayserili H.
American Journal of Medical Genetics, Part A , cilt.164, sa.2, ss.484-489, 2014 (SCI-Expanded, Scopus)

10. Mild nasal clefting may be predictive for ALX4 heterozygotes

Altunoglu U., KAMER N. B., UYGUNER Z. O., Kayserili H.
American Journal of Medical Genetics, Part A , cilt.164, sa.8, ss.2054-2058, 2014 (SCI-Expanded, Scopus)

11. Fraser syndrome due to mutations in GRIP1-Clinical phenotype in two families and expansion of the mutation spectrum

Schanze D., Kayserili H., KAMER N. B., Altunoglu U., Zenker M.
American Journal of Medical Genetics, Part A , cilt.164, sa.3, ss.837-840, 2014 (SCI-Expanded, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 22

1. Investigation of the biomarker potential of extracellular mitochondrial and nuclear DNA in Familial Mediterranean Fever patients

Satkın N. B., Çiçek E.
4th International Istanbul Congress of Health Sciences, İstanbul, Türkiye, 12 - 13 Aralık 2025, ss.53, (Özet Bildiri) Creative Commons License

2. Preliminary studies of human Pseudogene and Homology Database (hPHD)

KAMER N. B., Çiçek E., Kütükçü A., TUNCA ALPARSLAN G.
European Human Genetics Hybrid Conference 2024, Berlin, Almanya, 01 Haziran 2024, (Özet Bildiri)

3. Oculo-auricular syndrome in a new multiplex family does not link to HMX1 or its downstream enhancer

ALTUNOĞLU U., Kaya M., KAMER N. B., BÖRKLÜ TIRPANCI E.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, Almanya, 01 Haziran 2024, (Özet Bildiri)

4. Investigation of variant distribution and frequency in triple negative breast cancer patients living in theTrakya Region of Turkey: A Single Center Experience

GÜRKAN H., ATLI E., Özüpek N., KAMER N. B., Zhuri D., Sezginer Güler H., et al.
European Human Genetics Hybrid Conference 2024, Almanya, 01 Haziran 2024, (Özet Bildiri) Sürdürülebilir Kalkınma

5. Whole Exome Sequencing Analysis Results In Patients With Epilepsy Of Unknown Cause: Single Center Experience

ATLI E., KAMER N. B.
Union Of Thrace Universities Vi. International Health Sciences Congress, Türkiye, 30 Aralık 2023, (Özet Bildiri)

6. Whole Exome Sequencing Analysis Results In Patients With Epilepsy Of Unknown Cause: Single Center Experıence.

ATLI E., KAMER N. B.
Union Of Thrace Universities Vi. International Health Sciences Congress, Türkiye, 30 Kasım 2023, (Özet Bildiri)

7. A De Novo Large 5q35 Duplication As A Result Of Translocation; Reversed Sotos Syndrome With Craniosynostosis.

Kaya Ş., ATLI E. İ., ATLI E., KAMER N. B., GÜRKAN H.
14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting, Skopje, Makedonya, 05 Ekim 2023, (Özet Bildiri)

8. IGVH mutasyon durumu, karyotip ve interfaz FISH verileri ile KLL’de karşılaştırmalı genetik karakterizasyon: 50 hastada KUH-GHDM deneyimi

KAMER N. B., Kılıç G., OSMANBAŞOĞLU E., KALYON H., AKAY O. M., ERASLAN S., et al.
1. Ulusal Hematoonkogenetik kongresi, Türkiye, 25 Kasım 2022, (Özet Bildiri)

9. Revisiting TOP2B-Related Phenotypes: Turkish family with Three Affecteds in Two Generations

Çepni E., BÖRKLÜ TIRPANCI E., AVCI Ş., KAMER N. B., KAYSERİLİ KARABEY H.
European Human Genetics Hybrid Conference 2022, Avusturya, 11 Haziran 2022, (Özet Bildiri)

10. The application of array CGH for monogenic disorders; clinical and molecular cytogenetic characterization of twenty patients.

KARAMAN B., KAYSERİLİ KARABEY H., ALTUNOĞLU U., AVCI Ş., UYGUNER Z. O., KAMER N. B., et al.
11th European Cytogenetics Conference 2017, İtalya, 01 Temmuz 2017, (Özet Bildiri)

11. Homozoygous shox gene deletion detected by array CGH in a girl with langer mesomelic dysplasia

KARAMAN B., KAMER N. B., ALTUNOĞLU U., TOKSOY G., KAYSERİLİ KARABEY H., UYGUNER Z. O., et al.
European Human Genetics Conference 2014, İtalya, 30 Mayıs 2014, (Özet Bildiri)

12. 17q22 microdeletion syndrome; a case report.

KALAYCI T., KAMER N. B., ALTUNOĞLU U., KARAMAN B., KAYSERİLİ KARABEY H.
European Human Genetics Conference 2014., İtalya, 30 Mayıs 2014, (Özet Bildiri)

13. Array-CGH Findings of de novo Apparently Balanced Chromosomal Rearrangements in Phenotypically Affected 20 Cases.

KARAMAN B., KAMER N. B., KAYSERİLİ KARABEY H.
10th European Cytogenetic Conference, İrlanda, 29 Haziran 2013, (Özet Bildiri)

14. Aarskog-Scott syndrome: Four molecularly proven cases.

AVCI Ş., KAMER N. B., UYGUNER Z. O., ALTUNOĞLU U., KAYSERİLİ KARABEY H.
European Human Genetics Conference 2013, Fransa, 08 Haziran 2013, (Özet Bildiri)

15. Familial microdeletion of 3 Mb at 22q11.2 with unusual phenotype.

TOKSOY G., KAMER N. B., KAYSERİLİ KARABEY H., KARAMAN B., BAŞARAN S.
European Cytogenetic Conference 2013, İrlanda, 01 Haziran 2013, (Özet Bildiri)

16. Expanding the spectrum for KIF7 related phenotypes : The mildest and of the spectrum

KAYSERİLİ KARABEY H., ALTUNOĞLU U., KAMER N. B.
15. Manchester Dysmorphology Conference, İngiltere, 22 Ekim 2012, (Özet Bildiri)

17. Step by step, Formation of complex chromosomal rearrangements

KAMER N. B., KARAMAN B., ALTUNOĞLU U., BAŞARAN S.
European Human Genetics Conference 2012., Almanya, 28 Haziran 2012, (Özet Bildiri)

18. Array-CGH results in fetuses with central nervous system

KARAMAN B., KAMER N. B., KALELİOĞLU İ. H., KAYSERİLİ KARABEY H., BAŞARAN S.
European Human Genetics Conference 2012, Almanya, 28 Haziran 2012, (Özet Bildiri)

19. Chromosomal Imbalances in Holoprosencephaly Sequence; Results of 87 Cases Diagnosed Prenatally

KARAMAN B., KAMER N. B., KALELİOĞLU İ. H., HAS R., KAYSERİLİ KARABEY H., YÜKSEL A., et al.
European Human Genetics Conference 2012, Almanya, 23 Haziran 2012, (Özet Bildiri)

20. Indications for fetal karyotyping and ultrasonographic findings in common trisomies; alterations in over 2 decades

BAŞARAN S., KARAMAN B., TOKSOY G., KALELİOĞLU İ. H., HAS R., KAYSERİLİ KARABEY H., et al.
European Human Genetics Conference 2012, Almanya, 23 Haziran 2012, (Özet Bildiri)

21. Clinical and ultrasonographic findings of fetuses with trisomy 21, 18 and 13 cases diagnosed prenatally in amniotic fluid samples.

KAMER N. B., KALELİOĞLU İ. H., KARAMAN B., HAS R., KAYSERİLİ KARABEY H., YÜKSEL A., et al.
XI. National Medical Biology and Genetics Congress, Türkiye, 24 Kasım 2011, (Özet Bildiri)

22. Haploinsufficiency of SHH gene caused by deletion of 7q36->qter :Holoprosencephaly sequence in 5 cases.

KAMER N. B., KALELİOĞLU İ. H., KARAMAN B., HAS R., KAYSERİLİ KARABEY H., YÜKSEL A., et al.
8th European Cytogenetic Conference, Portekiz, 02 Temmuz 2011, (Özet Bildiri)
Metrikler

Yayın

33

Yayın (WoS)

11

Yayın (Scopus)

11

Atıf (WoS)

284

H-İndeks (WoS)

6

Atıf (Scopus)

299

H-İndeks (Scopus)

6

Atıf (Scholar)

387

H-İndeks (Scholar)

4

Proje

3

Tez Danışmanlığı

2

Açık Erişim

3
BM Sürdürülebilir Kalkınma Amaçları
SDG 3: AMAÇ 3: SAĞLIKLI BİREYLER
SDG 16: AMAÇ 16: BARIŞ VE ADALET