Yayınlar & Eserler

Yayın Ağı
Makaleler 37
Tümü (37)
SCI-E, SSCI, AHCI (29)
SCI-E, SSCI, AHCI, ESCI (37)
ESCI (8)
Scopus (36)
TRDizin (8)

1. Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Güneş N., Türk S., Onur H., Gür K., Yüksel Elgin C., Çifçi Sunamak E., et al.
European journal of pediatrics , cilt.185, sa.6, 2026 (SCI-Expanded, Scopus)

2. Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly

Tuysuz B., Çağlayan A. O., Kasap B., Alkaya D. U., Gunes N., Kilic H., et al.
CLINICAL GENETICS , 2026 (SCI-Expanded, Scopus)

3. Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients

Taner H. E., Uludağ Alkaya D., Kalyoncu Uçar A., Şeker A., Centel T., Yıldırım T., et al.
GENES , cilt.17, ss.1-17, 2026 (SCI-Expanded, Scopus)

4. Long-Term Follow-Up of a Patient with a Novel Homozygous ASTN1 Variant: A Case Report

Kasap B., Uludağ Alkaya D., Gunes N., Turk S., Korkmaz M. B., Tuysuz B.
NEUROLOGY INTERNATIONAL , cilt.18, sa.4, 2026 (ESCI, Scopus)

5. The Clinical and Molecular Spectrum of Turkish Patients with Syndromic Craniosynostosis: A Single Center Study.

Onur H., Uludağ Alkaya D., Kafadar A. M., Tahmazoğlu B., Aykut A., Aydın Y., et al.
Turkish archives of pediatrics , cilt.61, sa.5, ss.420-430, 2026 (ESCI, Scopus, TRDizin)

6. Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4

Turk S., GÜNEŞ N., GÖK A., ŞENGENÇ E., Demirbilek V., Kasap B., et al.
TURKISH ARCHIVES OF PEDIATRICS , cilt.61, sa.2, 2026 (ESCI, Scopus, TRDizin)

7. Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Uludağ Alkaya D., Usluer E., Alp Ünkar Z., Şeker A., Adaletli İ., Güneş N., et al.
Calcified tissue international , cilt.116, sa.1, ss.59, 2025 (SCI-Expanded, Scopus)

8. Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias

Gunes N., Alkaya D., Kurugoglu S., Ozyalvac N., Bursali A., ELÇİOĞLU H. N., et al.
PEDIATRIC RADIOLOGY , cilt.55, ss.505-519, 2025 (SCI-Expanded, Scopus)

9. An observational study of serum vitamin D status in critically ill children admitted to the pediatric intensive care unit

Gunes N., Çam H.
Archives of Medical Science , cilt.21, sa.2, ss.471-477, 2025 (SCI-Expanded, Scopus) Creative Commons License

10. MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS

Altunoglu U., GÜNEŞ N., Turgut G. T., KALAYCI T., Aslanger A. D., DERBENT M., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI , cilt.88, ss.26-37, 2025 (ESCI, Scopus, TRDizin)

11. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis

Altunoglu U., Palencia-Campos A., Güneş N., Turgut G. T., Nevado J., Lapunzina P., et al.
Journal of Medical Genetics , cilt.61, sa.7, ss.633-644, 2024 (SCI-Expanded, Scopus)

12. Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

GÜNEŞ N., ALKAYA D. U., TOYLU A., ÖZÜDOĞRU P., SUNAMAK E. Ç., ŞEKER A., et al.
Turkish archives of pediatrics , cilt.58, sa.4, ss.376-381, 2023 (ESCI, Scopus, TRDizin)

13. Clinical features of generalized lipodystrophy in Turkey: A cohort analysis

Yildirim Simsir I., TÜYSÜZ B., Ozbek M. N., Tanrikulu S., ÇELİK GÜLER M., Karhan A. N., et al.
Diabetes, Obesity and Metabolism , cilt.25, sa.7, ss.1950-1963, 2023 (SCI-Expanded, Scopus)

14. The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients

GÜNEŞ N., USLUER E., YÜKSEL ÜLKER A., ULUDAĞ ALKAYA D., ÇİFÇİ SUNAMAK E., CELEP EYÜPOĞLU F., et al.
TURKISH ARCHIVES OF PEDIATRICS , cilt.58, sa.1, ss.98-104, 2023 (ESCI, Scopus, TRDizin)

15. Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.

Güneş N., ULUDAĞ ALKAYA D., Demirbilek V., YALÇINKAYA C., TÜYSÜZ B.
The Journal of pediatrics , cilt.252, ss.93-100, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

16. Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype

Usluer E., Sayin G. Y., Gunes N., Kasap B., Tuysuz B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.188, sa.10, ss.2976-2987, 2022 (SCI-Expanded, Scopus)

17. Long-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant

ULUDAĞ ALKAYA D., UYGUNER Z. O., GÜNEŞ N., TÜYSÜZ B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.188, sa.5, ss.1639-1646, 2022 (SCI-Expanded, Scopus)

18. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants

TÜYSÜZ B., Elkanova L., ULUDAĞ ALKAYA D., Gulec C., Toksoy G., GÜNEŞ N., et al.
BONE , cilt.155, 2022 (SCI-Expanded, Scopus)

19. Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients

YAZAN H., GÜNEŞ N., Akpinar E., Yildirim T., Ozyalvac O. N., Akkaya D. U., et al.
TURKISH ARCHIVES OF PEDIATRICS , cilt.56, sa.5, ss.474-478, 2021 (ESCI, TRDizin)

20. Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation-dependent probe amplification and genotype-phenotype correlation in 138 Turkish patients

GÜNEŞ N., Yesil G., Geyik F., Kasap B., Celkan T., Kebudi R., et al.
ANNALS OF HUMAN GENETICS , cilt.85, ss.155-165, 2021 (SCI-Expanded, Scopus)

21. Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey

Berkay E. G., Elkanova L., Kalayci T., ULUDAĞ ALKAYA D., Altunoglu U., Cefle K., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.8, ss.2488-2495, 2021 (SCI-Expanded, Scopus)

22. Neurofibromatosis Type 1 in Children: A Single-Center Experience

Kacar A. G., KILINÇ OKTAY B., Ozel S., OCAK S., GÜNEŞ N., ULUDAĞ ALKAYA D., et al.
TURKISH ARCHIVES OF PEDIATRICS , cilt.56, sa.4, ss.339-343, 2021 (ESCI, Scopus, TRDizin)

23. Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum

Tuysuz B., Gunes N., Geyik F., Yesil G., Celkan T., VURAL Z. M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.6, ss.1721-1731, 2021 (SCI-Expanded, Scopus)

24. A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF-1 axis and GH therapy response

Ozer E., Karaman B., Gunes N., Evliyaoglu O., Tuysuz B.
TURKISH JOURNAL OF PEDIATRICS , sa.1, ss.174-180, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

25. Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

Toksoy G., Uludağ Alkaya D., Bagirova G., Avcı Ş., Aghayev A., Günes N., et al.
Molecular Syndromology , cilt.11, sa.4, ss.183-196, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

26. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Chatron N., Becker F., Morsy H., Schmidts M., Hardies K., Tuysuz B., et al.
Brain : a journal of neurology , cilt.143, ss.1447-1461, 2020 (SCI-Expanded, Scopus)

27. Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4

Nılay G., Kutlu T., Tekant G. A., Eroğlu A. G., Üstündağ N., Öztürk B., et al.
European Journal of Medical Genetics , cilt.63, sa.4, 2020 (SCI-Expanded, Scopus)

28. Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

Danyukova T., Ludwig N. F., Velho R. V., Harms F. L., GÜNEŞ N., Tidow H., et al.
HUMAN MUTATION , cilt.41, sa.1, ss.133-139, 2019 (SCI-Expanded, Scopus)

29. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Pehlivan D., Bayram Y., Gunes N., Akdemir Z. C., Shukla A., Bierhals T., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.105, sa.1, ss.132-150, 2019 (SCI-Expanded, Scopus) Creative Commons License

30. Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype

Tüysüz B., ALKAYA D., TOKSOY G., GÜNEŞ N., YıLDıRıM T., BAYHAN İ., et al.
GENE , cilt.704, ss.59-67, 2019 (SCI-Expanded, Scopus)

31. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

Velho R. V., Harms F. L., Danyukova T., Ludwig N. F., Friez M. J., Cathey S. S., et al.
HUMAN MUTATION , cilt.40, sa.7, ss.842-864, 2019 (SCI-Expanded, Scopus)

32. SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy

Fischer-Zirnsak B., Koenig R., Alisch F., GÜNEŞ N., Hausser I., Saha N., et al.
JOURNAL OF HUMAN GENETICS , cilt.64, sa.7, ss.609-616, 2019 (SCI-Expanded, Scopus)

33. Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1

Gunes N., YEŞİL G., BENG K., KAHRAMAN S., Tuysuz B.
MOLECULAR SYNDROMOLOGY , cilt.9, sa.3, ss.134-140, 2018 (SCI-Expanded, Scopus) Creative Commons License

34. A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR

Gunes N., Tasdemir E., JEFFERY H., Yetik H., OSTERGAARD P., Tuysuz B.
MOLECULAR SYNDROMOLOGY , cilt.9, sa.5, ss.266-270, 2018 (SCI-Expanded, Scopus) Creative Commons License

35. Two novel mutations in XYLT2 cause spondyloocular syndrome

Taylan F., Abali Z. Y., Jaentti N., Gunes N., Darendeliler F., Bas F., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.173, sa.12, ss.3195-3200, 2017 (SCI-Expanded, Scopus)

36. A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

TUERKMEN S., SPIELMANN M., Guenes N., KNAUS A., FLOETTMANN R., MUNDLOS S., et al.
MOLECULAR SYNDROMOLOGY , cilt.8, sa.6, ss.318-324, 2017 (SCI-Expanded, Scopus) Creative Commons License

37. BRANCHIO-OCULO-FACIAL SYNDROME IN A NEWBORN CAUSED BY A NOVEL TFAP2A MUTATION

Güneş N., Cengiz F. B., Duman D., Dervisoglu S., Tekin M., Tuysuz B.
GENETIC COUNSELING , ss.41-47, 2014 (SCI-Expanded)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 2

1. Clinical features and identification of mutation spectrum in 23 Turkish children with Kabuki syndrome

Usluer E., Yeşil Sayın G., Güneş N., Uludağ Alkaya D., Tüysüz B.
European Human Genetics Virtual Conference 2020, 6 Haziran - 09 Eylül 2020, (Özet Bildiri) Creative Commons License

2. EDA, TP63, LMX1B gen mutasyonlarının neden olduğu ectodermal displazi sendromlu üç olguda klinik bulgularının değerlendirilmesi

Usluer E., Kasap B., Uludağ Alkaya D., Güneş N., Yeşil Sayın G., Tüysüz B.
1. Bursa Uluslararası Katılımlı Genetik Günleri Dermatogenetik Sempozyomu 2020, Bursa, Türkiye, 9 - 11 Ocak 2020, ss.156, (Özet Bildiri)
Kitaplar 2

1. Trichorhinophalangeal Syndrome

Tüysüz B., Güneş N., Uludağ Alkaya D.
Genereviews, Margaret P Adam,Jerry Feldman,Ghayda M Mirzaa,Roberta A Pagon,Stephanie E Wallace,Anne Amemiya, Editör, University of Washington, Washington, ss.1-22, 2024

2. Olgu Örnekleri ile Genetik Testlerin Seçimi ve Yorumlanması

Tüysüz B., Uludağ Alkaya D., Güneş N.
Pediatri Pratiğinde Genetik Testlerin Seçimi ve Yorumlanması, Beyhan Tüysüz, Editör, Ankara Nobel Tıp Kitabevleri, İstanbul, ss.1-32, 2023
Metrikler

Yayın

43

Yayın (WoS)

38

Yayın (Scopus)

37

Atıf (WoS)

372

H-İndeks (WoS)

11

Atıf (Scopus)

411

H-İndeks (Scopus)

11

Atıf (Scholar)

31

H-İndeks (Scholar)

3

Proje

4

Açık Erişim

5
BM Sürdürülebilir Kalkınma Amaçları
SDG 3: AMAÇ 3: SAĞLIKLI BİREYLER