Metrikler
Yayın
57
Açık Erişim
7
BM Sürdürülebilir Kalkınma Amaçları
Eğitim Bilgileri
2007 - 2010
2007 - 2010Doktora
Ankara Üniversitesi, Biyoteknoloji Enstitüsü, Temel Biyoteknoloji (Dr), Türkiye
2004 - 2006
2004 - 2006Yüksek Lisans
Ankara Üniversitesi, Biyoteknoloji Enstitüsü, Temel Biyoteknoloji (Yl) (Tezli), Türkiye
1999 - 2004
1999 - 2004Lisans
Ankara Üniversitesi, Fen Fakültesi, Biyoloji Bölümü, Türkiye
Yaptığı Tezler
2010
2010Doktora
Sendromik olmayan otozomal resesif işitme kayıplı ve MYO15A genine bağlantı bulunan ailelerde mutasyon analizi
Ankara Üniversitesi, Biyoteknoloji Enstitüsü, Temel Biyoteknoloji (Dr)
2006
2006Yüksek Lisans
PTPN11 gen mutasyonlarının noonan sendromlu hastalarda taranması
Ankara Üniversitesi, Biyoteknoloji Enstitüsü, Temel Biyoteknoloji (Yl) (Tezli)
Araştırma Alanları
Sağlık Bilimleri
Akademik Ünvanlar / Görevler
2019 - Devam Ediyor
2019 - Devam EdiyorÖğretim Görevlisi
Gazi Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri
Makaleler
Tümü (50)
SCI-E, SSCI, AHCI (44)
SCI-E, SSCI, AHCI, ESCI (46)
ESCI (2)
Scopus (47)
TRDizin (5)
Diğer Yayınlar (1)
2025
20251. 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, Scopus)
2025
20252. 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, TRDizin)
2025
20253. 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, Scopus, TRDizin)
2024
20244. 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, SSCI, Scopus)
2024
20245. 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, Scopus)
2023
20236. 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, Scopus)
2022
20227. 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, Scopus)
2022
20228. 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, Scopus)
2022
20229. 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 (TRDizin)
2021
202110. 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, Scopus)
2021
202111. 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, Scopus)
2021
202112. 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, Scopus)
2021
202113. 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, Scopus)
2020
202014. 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, Scopus)
2020
202015. 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, Scopus)
2019
201916. 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, Scopus)
2019
201917. 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, Scopus)
2018
201818. 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, Scopus)
2018
201819. 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, Scopus)
2018
201820. 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, Scopus)
2018
201821. 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, Scopus)
2018
201822. 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)
2017
201723. 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, Scopus)
2017
201724. 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, Scopus)
2017
201725. 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, Scopus)
2016
201626. 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, Scopus)
2016
201627. 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, Scopus)
2016
201628. 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, Scopus)
2016
201629. 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, Scopus)
2016
201630. 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, Scopus)
2016
201631. 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, Scopus)
2015
201532. 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, Scopus, TRDizin)
2014
201433. 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, Scopus)
2014
201434. 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, Scopus)
2014
201435. 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)
2013
201336. 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, Scopus)
2012
201237. 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, Scopus)
2011
201138. 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, Scopus)
2010
201039. 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, Scopus)
2010
201040. 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, Scopus)
2010
201041. 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, Scopus)
2010
201042. 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, Scopus)
2009
200943. 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, Scopus)
2009
200944. 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 (TRDizin)
2008
200845. 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, Scopus)
2008
200846. 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, Scopus)
2007
200747. 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, Scopus)
2007
200748. 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, Scopus)
2007
200749. 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, Scopus)
2006
200650. 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, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
2023
20231. 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)
2019
20192. 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)
2019
20193. 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
2024
20241. 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