Dr. Öğr. Üyesi FİLİZ BAŞAK ERGİN

Yayın Ağı

Makaleler 50

1. Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes

Akyüz A., OKUR İ., TÜMER L., EMİNOĞLU F. T., KÖSE E., ERGİN F. B., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.184, sa.9, 2025 (SCI-Expanded) Sürdürülebilir Kalkınma

2. Evaluation of Her2 Positivity in Gastric Cancer Using Two Different Methods: A Prospective Study Mide Kanserinde Her2 Pozitifliğinin Farkli İki Yöntemle Değerlendirilmesi: Prospektif Bir Çalışma

Sönmez A. İ. H., Sevinç A., Sarı İ., Koruk İ., Aydınlı M., Öztuzcu S., et al.

Genel Tip Dergisi , cilt.35, sa.1, ss.21-30, 2025 (Scopus)

3. Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye

Özsaydi Aktaşoğlu E., İNCİ A., ÖKTEM R. M., BİBEROĞLU G., OKUR İ., EZGÜ F. S., et al.

Turkish Journal of Medical Sciences , cilt.55, sa.3, ss.585-594, 2025 (SCI-Expanded)

4. Association between CLOCK gene polymorphisms with circadian rhythm, chrononutrition, dietary intake, and metabolic parameters in adolescents

Uyar G. O., YILDIRAN H., Teker-Duztas D., DALGIÇ B., KARAKAŞ N. M., ÇAMURDAN M. O., et al.

FRONTIERS IN PUBLIC HEALTH , cilt.12, 2024 (SCI-Expanded)

5. A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review

GÖKALP S., İNCİ A., KILIÇ A., Ozsaydi E., ALTUN A. N., DEMİR F., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.37, sa.6, ss.571-574, 2024 (SCI-Expanded)

6. A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation

Yıldız Ç., Gezgin Yıldırım D., İnci A., Tümer L., Ergin F. B., Sunar Yayla E. N. S., et al.

Joint Bone Spine , cilt.90, sa.1, 2023 (SCI-Expanded)

7. Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability

İnci A., Kılıç Yıldırım G., Cengiz Ergin F. B., Sarı S., Eğritaş Gürkan Ö., Okur İ., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.4, ss.451-462, 2022 (SCI-Expanded)

8. A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene

Ergin F. B., Tekin M., Gunes M., Gunes B., Baysun S., Akar N.

EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS , cilt.23, sa.1, 2022 (ESCI)

9. m.3010G>A Değişikliğinin Türk Populasyonunda Siklik Kusma Sendromuna Etkisi

ERGİN F. B., İNCİ A., OKUR İ., BİBEROĞLU G., TÜMER L., EZGÜ F. S.

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi , 2022 (Hakemli Dergi)

10. The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis

İNCİ A., Aktas E., Cengiz Ergin F. B., OKUR İ., BİBEROĞLU G., EZGÜ F. S., et al.

JOURNAL OF PARENTERAL AND ENTERAL NUTRITION , cilt.45, sa.8, ss.1788-1792, 2021 (SCI-Expanded)

11. Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features

İNCİ A., Cengiz B., BİBEROĞLU G., OKUR İ., ARHAN E., ÖNER A. Y., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.9, ss.2739-2747, 2021 (SCI-Expanded)

12. Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

İnci A., Ergin F. B., Yüce B. T., Çiftçi B., Demir E., Buyan N., et al.

JOURNAL OF BONE AND MINERAL METABOLISM , cilt.39, sa.4, ss.598-605, 2021 (SCI-Expanded)

13. Two patients from Turkey with a novel variant in the GM2A gene and review of the literature

İNCİ A., ERGİN F. B., BİBEROĞLU G., OKUR İ., EZGÜ F. S., TÜMER L.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.6, ss.805-812, 2021 (SCI-Expanded)

14. Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

Bademci G., Abad C., Cengiz F. B., Seyhan S., İNCESULU Ş. A., Guo S., et al.

JOURNAL OF CLINICAL INVESTIGATION , cilt.130, sa.8, ss.4213-4217, 2020 (SCI-Expanded)

15. Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

Thanikachalam S., Hodapp E., Chang T. C., Swols D. M., Cengiz F. B., Guo S., et al.

GENES , cilt.11, sa.4, 2020 (SCI-Expanded)

16. FOXF2 is required for cochlear development in humans and mice

Bademci G., Abad C., İNCESULU Ş. A., Elian F., Reyahi A., Diaz-Horta O., et al.

HUMAN MOLECULAR GENETICS , cilt.28, sa.8, ss.1286-1297, 2019 (SCI-Expanded)

17. Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Li C., Bademci G., Subasioglu A., Diaz-Horta O., Zhu Y., Liu J., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.116, sa.4, ss.1347-1352, 2019 (SCI-Expanded)

18. Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

McSherry M., Masih K. E., ELÇİOĞLU H. N., Celik P., Balci O., Cengiz F. B., et al.

PLOS ONE , cilt.13, sa.11, 2018 (SCI-Expanded)

19. Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Diaz-Horta O., Abad C., Cengiz F. B., Bademci G., Blackwelder P., Walz K., et al.

JOURNAL OF MOLECULAR MEDICINE-JMM , cilt.96, sa.11, ss.1227-1238, 2018 (SCI-Expanded)

20. Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Su M., Benke P. J., Bademci G., Cengiz F. B., Ouyang X., Peng J., et al.

MOLECULAR CYTOGENETICS , cilt.11, 2018 (SCI-Expanded)

21. MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Bademci G., Abad C., İNCESULU Ş. A., Rad A., Alper O., Kolb S. M., et al.

HUMAN GENETICS , cilt.137, sa.6-7, ss.479-486, 2018 (SCI-Expanded)

22. Mitochondrial Variants in Leber’s Hereditary Optic Neuropathy in Turkish Patients.

CENGİZ F. B., Yüce B., Çiftçi B.

Turkish Journal of Molecular Biology Biotechnology , cilt.3, ss.6-9, 2018 (Hakemli Dergi)

23. Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Cengiz F. B., Yilmazer R., Olgun L., SENNAROĞLU L., Kirazli T., Alper H., et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , cilt.101, ss.167-171, 2017 (SCI-Expanded)

24. Novel EYA1 variants causing Branchio-oto-renal syndrome

Klingbeil K. D., Greenland C. M., ArsIan S., Paneque A. L., GÜRKAN H., Ulusal S. D., et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , cilt.98, ss.59-63, 2017 (SCI-Expanded)

25. Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation

Menendez I., Carranza C., Herrera M., Marroquin N., Foster J., Cengiz F. B., et al.

CLINICAL CASE REPORTS , cilt.5, sa.4, ss.376-379, 2017 (ESCI)

26. Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

Manzoli G. N., Bademci G., Acosta A. X., Felix T. M., Cengiz F. B., Foster J., et al.

ANNALS OF HUMAN GENETICS , cilt.80, sa.6, ss.327-331, 2016 (SCI-Expanded)

27. Audiological findings in Noonan syndrome

Tokgoz-Yilmaz S., TÜRKYILMAZ M. D., Cengiz F. B., Sjostrand A. P., KÖSE S. K., Tekin M.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , cilt.89, ss.50-54, 2016 (SCI-Expanded)

28. Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Yan D., Tekin D., Bademci G., Foster J., Cengiz F. B., Kannan-Sundhari A., et al.

HUMAN GENETICS , cilt.135, sa.8, ss.953-961, 2016 (SCI-Expanded)

29. Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Bademci G., Cengiz F. B., Foster J., DUMAN D., SENNAROĞLU L., Diaz-Horta O., et al.

SCIENTIFIC REPORTS , cilt.6, 2016 (SCI-Expanded)

30. ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Diaz-Horta O., Abad C., SENNAROĞLU L., Foster J., DeSmidt A., Bademci G., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.113, sa.21, ss.5993-5998, 2016 (SCI-Expanded)

31. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Bademci G., Foster J., Mahdieh N., Bonyadi M., DUMAN D., Cengiz F. B., et al.

GENETICS IN MEDICINE , cilt.18, sa.4, ss.364-371, 2016 (SCI-Expanded)

32. HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction

BULUM AKBULUT B., ÖZÇAKAR Z. B., DUMAN D., Cengiz F. B., Kavaz A., BURGU B., et al.

NEPHRON , cilt.130, sa.1, ss.54-58, 2015 (SCI-Expanded)

33. Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss

Bademci G., Diaz-Horta O., Guo S., DUMAN D., Van Booven D., Foster J., et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS , cilt.18, sa.9, ss.658-661, 2014 (SCI-Expanded)

34. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Diaz-Horta O., Subasioglu-Uzak A., Grati M., DeSmidt A., Foster J., Cao L., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.111, sa.27, ss.9864-9868, 2014 (SCI-Expanded)

35. Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.

Günes N., Cengiz F. B., Duman D., Dervişoğlu S., Tekin M., Tüysüz B.

Genetic counseling (Geneva, Switzerland) , cilt.25, sa.1, ss.41-7, 2014 (SCI-Expanded)

36. SLITRK6 mutations cause myopia and deafness in humans and mice

Tekin M., Chioza B. A., Matsumoto Y., Diaz-Horta O., Cross H. E., DUMAN D., et al.

JOURNAL OF CLINICAL INVESTIGATION , cilt.123, sa.5, ss.2094-2102, 2013 (SCI-Expanded)

37. Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Diaz-Horta O., DUMAN D., Foster J., Sirmaci A., Gonzalez M., Mahdieh N., et al.

PLOS ONE , cilt.7, sa.11, 2012 (SCI-Expanded)

38. Screening of 38 Genes Identifies Mutations in 62% of Families with Nonsyndromic Deafness in Turkey

DUMAN D., Sirmaci A., Cengiz F. B., ÖZDAĞ SEVGİLİ H., Tekin M.

GENETIC TESTING AND MOLECULAR BIOMARKERS , cilt.15, sa.1-2, ss.29-33, 2011 (SCI-Expanded)

39. Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population

Cengiz F. B., DUMAN D., Sirmaci A., TOKGÖZ YILMAZ S., Erbek S., Oztukmen-Akay H., et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS , cilt.14, sa.4, ss.543-550, 2010 (SCI-Expanded)

40. A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Sirmaci A., Erbek S., Price J., Huang M., DUMAN D., Cengiz F. B., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.86, sa.5, ss.797-804, 2010 (SCI-Expanded)

41. GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf

Tekin M., Xia X., Erdenetungalag R., Cengiz F. B., White T. W., Radnaabazar J., et al.

ANNALS OF HUMAN GENETICS , cilt.74, ss.155-164, 2010 (SCI-Expanded)

42. A FGF3 Mutation Associated With Differential Inner Ear Malformation, Microtia, and Microdontia

Ramsebner R., Ludwig M., Parzefall T., Lucas T., Baumgartner W., Bodamer O., et al.

LARYNGOSCOPE , cilt.120, sa.2, ss.359-364, 2010 (SCI-Expanded)

43. Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

Sirmaci A., DUMAN D., Ozturkmen-Akay H., Erbek S., İNCESULU Ş. A., ÖZTÜRK HİŞMİ B., et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , cilt.73, sa.5, ss.699-705, 2009 (SCI-Expanded)

44. A New SOX9 Gene Mutation In A Case of Campomelic Dysplasia

Yuksel-Konuk E. B., CENGİZ F. B., FİTOZ Ö. S., Tekin M.

TURKIYE KLINIKLERI PEDIATRI , cilt.18, ss.253-256, 2009 (Hakemli Dergi)

45. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

TEKİN M. N., Akay H. O., Fitoz S., Birnbaum S., Cengiz F. B., SENNAROĞLU L., et al.

CLINICAL GENETICS , cilt.73, sa.6, ss.554-565, 2008 (SCI-Expanded)

46. The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: Mutation or polymorphism?

Akcaboy M. I., Cengiz F. B., Inceoglu B., UÇAR T., Atalay S., Tutar E., et al.

PEDIATRIC CARDIOLOGY , cilt.29, sa.1, ss.126-129, 2008 (SCI-Expanded)

47. Familial neonatal marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

Tekin M., Cengiz F. B., Ayberkin E., Kendirli T., FİTOZ Ö. S., Tutar E., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.143A, sa.8, ss.875-880, 2007 (SCI-Expanded)

48. SLC26A4 mutations are associated with a specific inner ear malformation

FİTOZ Ö. S., Sennaroglu L., Incesulu A., Cengiz F. B., Koc Y., Tekin M.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , cilt.71, sa.3, ss.479-486, 2007 (SCI-Expanded)

49. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia

Tekin M., Hismi B. O., FİTOZ Ö. S., ÖZDAĞ SEVGİLİ H., Cengiz F. B., Sirmaci A., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.80, sa.2, ss.338-344, 2007 (SCI-Expanded)

50. Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients

ÖZÇAKAR Z. B., Cengiz F. B., Cakar N., Uncu N., Kara N., Acar B., et al.

PEDIATRIC NEPHROLOGY , cilt.21, sa.8, ss.1093-1096, 2006 (SCI-Expanded)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 3

1. Ultra-Nadir Bir Hastalık ve Yeni Bir Mutasyon; Smg9 Eksikliği, Bir Aile 4Etkilenmiş Birey

Ergin F. B., İnci A., Ezgü F. S.

6. Ulusal Çocuk Genetik Kongresini 09-12 Kasım 2023, Aydın, Türkiye, 9 - 11 Kasım 2023, (Özet Bildiri)

2. Could Targeted Next Generation Sequencing Be A First Line Diagnostic Method for Lysosomal Storage Disease?

CENGİZ F. B., İNCİ A., BİBEROĞLU G., Çiftçi B., Topçu B., Tokgöz D., et al.

International Inborn Errors of Metabolism and Nutrition Congress, 10 - 14 Nisan 2019, (Tam Metin Bildiri)

3. Could Targeted Next Generation Sequencing Be A First Line Diagnostic Method for Lysosomal storage Diseases?

ERGİN F. B., İNCİ A., BİBEROĞLU G., ÇİFTÇİ B., TOPÇU YÜCE A. B., TOKGÖZ D., et al.

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS 10 - 14 April 2019 Istanbul-Turkey, Türkiye, 10 - 14 Nisan 2019, (Özet Bildiri)

Kitaplar 1

1. GENETIC EVALUATION OF METABOLIC MYOPATHIES

İNCİ A., ERGİN F. B., Aktaşoğlu E.

Inherited Metabolic Myopathies, İlyas Okur, Editör, Türkiye Klinikleri (Ortadoğu Reklam Tanıtım Yayıncılık Turizm Eğitim İnşaat Sanayi ve Ticaret A.Ş.), ss.97-104, 2024

Metrikler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

1245

H-İndeks (WoS)

Atıf (Scopus)

1330

H-İndeks (Scopus)

Atıf (Scholar)

H-İndeks (Scholar)

Proje

Açık Erişim

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