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F. Cengiz · SciRah

Researcher profile · Semantic Scholar

F. Cengiz

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F. Cengiz — researcher profile on SciRah

h-index: 23
Works: 40
Citations: 1,587

Most-cited papers

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
O. Díaz-Horta, D. Duman, J. Foster, A. Sırmacı +11 more
2012PLoS ONE151 citations Open access
Semantic Scholar
Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort
G. Bademci, J. Foster, N. Mahdieh, M. Bonyadi +27 more
2015Genetics in Medicine145 citations Open access
Semantic Scholar
Spectrum of DNA variants for nonsyndromic deafness in a large cohort from multiple continents
D. Yan, Demet Tekin, G. Bademci, J. Foster +27 more
2016Human Genetics123 citations Open access
Semantic Scholar
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
M. Tekin, B. Hismi, S. Fitoz, H. Özdağ +8 more
2007American Journal of Human Genetics122 citations Open access
Semantic Scholar
Screening of 38 Genes Identifies Mutations in 62% of Families with Nonsyndromic Deafness in Turkey
D. Duman, A. Sırmacı, F. Cengiz, H. Ozdag +1 more
2011Genetic Testing and Molecular Biomarkers81 citations
Semantic Scholar
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
O. Díaz-Horta, Asli Subasioglu-Uzak, M. Grati, Alexandra A. Desmidt +14 more
2014Proceedings of the National Academy of Sciences of the United States of America74 citations Open access
Semantic Scholar
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
A. Sırmacı, S. Erbek, Justin Price, Mingqian Huang +21 more
2010American Journal of Human Genetics66 citations Open access
Semantic Scholar
SLITRK6 mutations cause myopia and deafness in humans and mice.
Mustafa Tekin, B. Chioza, Yoshifumi Matsumoto, O. Díaz-Horta +21 more
2013Journal of Clinical Investigation60 citations Open access
Semantic Scholar
GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf
M. Tekin, Xia J. Xia, R. Erdenetungalag, F. Cengiz +6 more
2010Annals of Human Genetics60 citations Open access
Semantic Scholar
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
A. Sırmacı, D. Duman, H. Oztürkmen-Akay, S. Erbek +16 more
2009International Journal of Pediatric Otorhinolaryngology56 citations
Semantic Scholar
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
M. Tekin, F. Cengiz, Eda Ayberkin, T. Kendirli +4 more
2007American Journal of Medical Genetics. Part A54 citations
Semantic Scholar
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss
G. Bademci, F. Cengiz, J. F. Ii, D. Duman +20 more
2016Scientific Reports50 citations Open access
Semantic Scholar
Recurrent and Private MYO15A Mutations Are Associated with Deafness in the Turkish Population
F. Cengiz, D. Duman, A. Sırmacı, Suna Tokgöz-Yılmaz +7 more
2010Genetic Testing and Molecular Biomarkers49 citations
Semantic Scholar
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia
M. Tekin, H. Akay, S. Fitoz, S. Birnbaum +11 more
2008Clinical Genetics49 citations
Semantic Scholar
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
O. Díaz-Horta, C. Abad, L. Sennaroğlu, J. Foster +17 more
2016Proceedings of the National Academy of Sciences of the United States of America48 citations Open access
Semantic Scholar
Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss
G. Bademci, O. Díaz-Horta, Shengru Guo, D. Duman +5 more
2014Genetic Testing and Molecular Biomarkers36 citations Open access
Semantic Scholar
The Effect of p.Arg25Cys Alteration in NKX2-5 on Conotruncal Heart Anomalies: Mutation or Polymorphism?
M. Akçaboy, F. Cengiz, B. Inceoglu, T. Uçar +3 more
2007Pediatric Cardiology35 citations
Semantic Scholar
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
G. Bademci, C. Abad, A. İncesulu, A. Rad +21 more
2018Human Genetics27 citations Open access
Semantic Scholar
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia
Reinhard Ramsebner, M. Ludwig, T. Parzefall, Trevor Lucas +6 more
2010The Laryngoscope27 citations
Semantic Scholar
Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
I. Menéndez, C. Carranza, M. Herrera, Nely Marroquín +4 more
2017Clinical Case Reports26 citations Open access
Semantic Scholar
SLC26A4 mutations are associated with a specific inner ear malformation.
S. Fitoz, L. Sennaroğlu, A. İncesulu, F. Cengiz +2 more
2007International Journal of Pediatric Otorhinolaryngology26 citations
Semantic Scholar
Novel Pathogenic Variants Underlie SLC26A4-related Hearing Loss in a Multiethnic Cohort
F. Cengiz, R. Yılmazer, L. Olgun, L. Sennaroğlu +21 more
2017International Journal of Pediatric Otorhinolaryngology25 citations Open access
Semantic Scholar
FOXF2 is required for cochlear development in humans and mice.
G. Bademci, C. Abad, A. İncesulu, Fahed A. Elian +19 more
2018Human Molecular Genetics24 citations Open access
Semantic Scholar
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
Megan McSherry, Katherine E. Masih, N. Elcioglu, Pelin Çeli̇k +10 more
2018PLoS ONE23 citations Open access
Semantic Scholar
Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients
Z. Özçakar, F. Cengiz, N. Çakar, N. Uncu +6 more
2006Pediatric nephrology (Berlin, West)23 citations
Semantic Scholar
Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil
G. N. Manzoli, G. Bademci, A. Acosta, T. M. Félix +10 more
2016Annals of Human Genetics21 citations Open access
Semantic Scholar
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
S. Thanikachalam, E. Hodapp, T. Chang, Dayna Morel Swols +8 more
2020Genes18 citations Open access
Semantic Scholar
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss
Chong Li, G. Bademci, A. Subaşıoğlu, O. Díaz-Horta +13 more
2019Proceedings of the National Academy of Sciences of the United States of America18 citations Open access
Semantic Scholar
Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome
Kyle D. Klingbeil, C. Greenland, S. Arslan, Arianne Llamos Paneque +16 more
2017International Journal of Pediatric Otorhinolaryngology18 citations Open access
Semantic Scholar
Long-range cis-regulatory elements controlling GDF6 expression are essential for cochlear development.
G. Bademci, C. Abad, F. Cengiz, Serhat Seyhan +15 more
2020Journal of Clinical Investigation15 citations Open access
Semantic Scholar
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation
O. Díaz-Horta, C. Abad, F. Cengiz, G. Bademci +3 more
2018Journal of molecular medicine15 citations Open access
Semantic Scholar
HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction
B. Bulum, Z. Özçakar, D. Duman, F. Cengiz +8 more
2015Nephron8 citations
Semantic Scholar
Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
O. Díaz-Horta, D. Duman, J. Foster, A. Sırmacı +11 more
2013PLoS ONE8 citations Open access
Semantic Scholar
Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.
N. Güneş, F. Cengiz, D. Duman, S. Dervişoğlu +2 more
2014Genetic Counseling5 citations
Semantic Scholar
Audiological findings in Noonan syndrome.
S. Tokgoz-Yilmaz, M. D. Turkyilmaz, F. Cengiz, Alev Pektaş Sjöstrand +2 more
2016International Journal of Pediatric Otorhinolaryngology4 citations
Semantic Scholar
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
Meng Su, P. Benke, G. Bademci, F. Cengiz +5 more
2018Molecular Cytogenetics2 citations Open access
Semantic Scholar
Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
S. Thanikachalam, E. Hodapp, T. Chang, Dayna Morel Swols +8 more
20200 citations Open access
Semantic Scholar
Long-range cis-regulatory elements controlling GDF6 expression are essential for cochlear development
G. Bademci, K. Walz, M. Tekin, C. Abad +16 more
20200 citations
Semantic Scholar
Comprehensive Genetic Testing Identifies Rare Pathogenic Variants for Anterior Segment Dysgenesis
Dayna Morel, S. Thanikachalam, E. Hodapp, T. Chang +5 more
20180 citations
Semantic Scholar
A New SOX9 Gene Mutation in A Case of Campomelic Dysplasia
E. B. Yüksel-Konuk, F. Cengiz, S. Fitoz, M. Tekin
20090 citations
Semantic Scholar

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M. Tekin×33
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M. Tekin — researcher profile on SciRah
D. Duman×24
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G. Bademci×21
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Shengru Guo×11

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O. Díaz-Horta×10

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I. Menéndez×9

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