Doç. Dr. DUYGU DUMAN

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Identification of novel <i>MYH14</i> variants in families with autosomal dominant sensorineural hearing loss

DUMAN D., Ramzan M., Subasioglu A., MUTLU A., Peart L., Seyhan S., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 2024 (SCI-Expanded)

Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2

Ramzan M., Zafeer M. F., Abad C., Guo S., Owrang D., Alper O., et al.

European Journal of Human Genetics , 2024 (SCI-Expanded)

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Ramzan M., Bozan N., Seyhan S., Zafeer M. F., Ayral A., Duman D., et al.

SCIENTIFIC REPORTS , cilt.13, sa.1, 2023 (SCI-Expanded)

Dispersed DNA variants underlie hearing loss in South Florida's minority population

Peart L., Gonzalez J., Morel Swols D., Duman D., Saridogan T., Ramzan M., et al.

HUMAN GENOMICS , cilt.17, sa.1, 2023 (SCI-Expanded)

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss

Ramzan M., Duman D., Hendricks L. C. P., Guo S., Mutlu A., Kalcıoğlu M. T., et al.

JOURNAL OF HUMAN GENETICS , cilt.68, sa.10, ss.657-669, 2023 (SCI-Expanded)

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

Vona B., Schwartzbaum D. A., Rodriguez A. A., Lewis S. S., Toosi M. B., Radhakrishnan P., et al.

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY , cilt.36, sa.9, ss.1606-1611, 2022 (SCI-Expanded)

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Bademci G., Lachgar-Ruiz M., Deokar M., Zafeer M. F., Abad C., Baylan M. Y., et al.

Proceedings of the National Academy of Sciences of the United States of America , cilt.119, sa.26, 2022 (SCI-Expanded)

Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases

Gencer Öncül E. B., Duman D., Eminoğlu F. T., Aktuna S., Duman M. T.

BALKAN MEDICAL JOURNAL , cilt.39, sa.2, ss.96-106, 2022 (SCI-Expanded)

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)

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

Diaz-Horta O., Bademci G., TOKGÖZ YILMAZ S., Guo S., Zafeer F., Sineni C. J., et al.

CLINICAL GENETICS , cilt.96, sa.6, ss.575-578, 2019 (SCI-Expanded)

Adams-Oliver syndrome caused by mutations of the EOGT gene

Schroeder K. C., DUMAN D., Tekin M., Schanze D., Sukalo M., Meester J., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.179, sa.11, ss.2246-2251, 2019 (SCI-Expanded)

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Sineni C. J., Yildirim-Baylan M., Guo S., Camarena V., Wang G., TOKGÖZ YILMAZ S., et al.

HUMAN GENETICS , cilt.138, sa.10, ss.1071-1075, 2019 (SCI-Expanded)

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

OCAK E., DUMAN D., Tekin M.

BALKAN MEDICAL JOURNAL , cilt.36, sa.4, ss.206-211, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma

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)

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)

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., Elcioglu N. H., Celik P., Balci O., Cengiz F. B., et al.

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

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Meester J. A. N., Sukalo M., Schroeder K. C., Schanze D., Baynam G., Borck G., et al.

HUMAN MUTATION , cilt.39, sa.9, ss.1246-1261, 2018 (SCI-Expanded)

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)

Variants in CIB2 cause DFNB48 and not USH1J

Booth K. T., Kahrizi K., Babanejad M., Daghagh H., Bademci G., Arzhangi S., et al.

CLINICAL GENETICS , cilt.93, sa.4, ss.812-821, 2018 (SCI-Expanded)

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

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

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

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)

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

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

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

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)

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)

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)

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Chakchouk I., Grati M., Bademci G., Bensaid M., Ma Q., Chakroun A., et al.

MOLECULAR GENETICS AND GENOMICS , cilt.290, sa.4, ss.1327-1334, 2015 (SCI-Expanded)

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)

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)

Analysis Of Hpse2 Gene Mutations In Children With Non-neurogenic Neurogenic Bladder And Urofacial (ochoa) Syndrome

Bulum B., ÖZÇAKAR Z. B., DUMAN D., Cengiz F. B., BURGU B., Baskin E., et al.

PEDIATRIC NEPHROLOGY , cilt.29, sa.9, ss.1698, 2014 (SCI-Expanded)

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)

Evidence for genotype-phenotype correlation for OTOF mutations

Yildirim-Baylan M., Bademci G., DUMAN D., Ozturkmen-Akay H., TOKGÖZ YILMAZ S., Tekin M.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , cilt.78, sa.6, ss.950-953, 2014 (SCI-Expanded)

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

Gunes N., Cengiz F. B., DUMAN D., Dervisoglu S., Tekin M., Tuysuz B.

GENETIC COUNSELING , cilt.25, sa.1, ss.41-47, 2014 (SCI-Expanded)

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

BULUM AKBULUT B., ÖZÇAKAR Z. B., ÜSTÜNER E., DÜŞÜNCELİ ATMAN E., Kavaz A., DUMAN D., et al.

PEDIATRIC NEPHROLOGY , cilt.28, sa.11, ss.2143-2147, 2013 (SCI-Expanded)

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)

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)

MASP-1 is crucial for lectin pathway activation in human serum, while neither MASP-1 nor MASP-3 are required for alternative pathway function

Degn S. E., Jensen L., Hansen A. G., DUMAN D., Tekin M., Jensenius J. C., et al.

IMMUNOBIOLOGY , cilt.217, sa.11, ss.1218-1219, 2012 (SCI-Expanded)

Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Yariz K. O., DUMAN D., Seco C. Z., Dallman J., Huang M., Peters T. A., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.91, sa.5, ss.872-882, 2012 (SCI-Expanded)

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

Yariz K. O., Walsh T., Akay H., Duman D., Akkaynak A. C., King M., et al.

CLINICAL GENETICS , cilt.81, sa.3, ss.289-293, 2012 (SCI-Expanded)

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

Erken H., Yariz K. O., Duman D., TULUNAY KAYA C., Sayin T., Heper A., et al.

BRITISH JOURNAL OF DERMATOLOGY , cilt.165, sa.4, ss.917-921, 2011 (SCI-Expanded)

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

Sirmaci A., Oeztuerkmen-Akay H., Erbek S., İNCESULU Ş. A., Duman D., Tasir-Yilmaz S., et al.

CLINICAL GENETICS , cilt.75, sa.6, ss.562-567, 2009 (SCI-Expanded)

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

Tekin M., Akay H. O., Fitoz S., Birnbaum S., Cengiz F. B., Sennaroglu L., et al.

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

Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome

Erur A. T., Ocal G., BERBEROĞLU M., Tekin M., KILIÇ B. G., AYCAN Z., et al.

PEDIATRICS INTERNATIONAL , cilt.50, sa.2, ss.172-174, 2008 (SCI-Expanded)

The c.IVS1+1G > A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population

Sirmaci A., Akcayoz-Duman D., Tekin M.

JOURNAL OF GENETICS , cilt.85, sa.3, ss.213-216, 2006 (SCI-Expanded)

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

Tekin M., Akcayoz D., Incesulu A.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.138A, sa.1, ss.6-10, 2005 (SCI-Expanded)

657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population

Tekin M., Akcayoz D., Ucar C., Gulen H., Akar N.

Human Biology , cilt.77, ss.393-397, 2005 (SCI-Expanded)

Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey

Tekin M., Akcayoz D., ÇOMAK E., Bogoclu G., Duman T., Fitoz S., et al.

CLINICAL GENETICS , cilt.64, sa.4, ss.371-374, 2003 (SCI-Expanded)

Diğer Dergilerde Yayınlanan Makaleler

Research of genetic bases of hereditary non-syndromic hearing loss

Subasioglu A., DUMAN D., Sirmaci A., Bademci G., Carkit F., SOMDAŞ M. A., et al.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS , cilt.52, sa.3, ss.122-132, 2017 (ESCI)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Molecular diagnosis of lethal multiple pterygium syndrome in a fetus presenting with fetal akinesia deformation sequence

ÇETİN T., MUTLU H., DUMAN D., DUMAN M. T.

8. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Türkiye, 21 Eylül 2023

Genome sequencing identifies coding and non-coding variants in hereditary deafness missed by exome sequencing

Ramzan M., Duman D., Hendricks L. C. P., Zafeer M. F., Bademci G., Tekin M.

American Society of Human Genetics 2022 Annual Meeting , California, Amerika Birleşik Devletleri, 25 - 29 Ekim 2022, ss.982

Biallelic variants in KITLG cause Waardenburg syndrome type 2, albinism-deafness syndrome and oculocutaneous albinism

Girisha K., Vona B., Schwartzbaum D., Rodriguez A. A., Lewis S. S., Toosi M. B., et al.

European Human Genetics Conference , Vienna, Avusturya, 11 - 14 Haziran 2022, ss.369

Characterization of MINAR2 as a Novel Autosomal Recessive Deafness Gene

Bademci G., Lachgar-Ruiz ., Deokar M., Zafeer M. F., Abad ., Yildirim Baylan ., et al.

12th Molecular Biology of Hearing and Deafness Conference, Iowa, Amerika Birleşik Devletleri, 24 - 27 Mayıs 2022, ss.18

Expanding KITLG to Include Autosomal Recessive Inheritance, Oculocutaneous Albinism and Waardenburg/Albinism-Deafness Syndromes

Vona B., A. Schwartzbaum D., A. Rodriguez A., Lewis S. S., Toosi M. B., Radhakrishnan P., et al.

12th Molecular Biology of Hearing and Deafness Conference, Iowa, Amerika Birleşik Devletleri, 24 - 27 Mayıs 2022, ss.97

Leigh Sendromu (LS) Ön Tanılı Bir Hastada Olası Genetik Etmenlerin Araştırılması

gencer oncül e. b., DUMAN D., EMİNOĞLU F. T., AKTUNA S., DUMAN M. T.

VI. Tıbbi Biyoloji ve Genetik Kongresi, Muğla, Türkiye, 27 - 30 Ekim 2019

işitme kaybının genetiği

DUMAN D.

V. Uluslararası Katılımlı Odyoloji Kongresi, Ankara, Türkiye, 11 - 12 Mayıs 2019

Whole Mitochondrial Genome Screening in Children with Suspected Mitochondrial Disease

GENCER ÖNCÜL E. B., DUMAN D., EMİNOĞLU F. T., AKTUNA S., DUMAN M. T.

Uluslararası Metabolik Hastalıklar ve Beslenme Kongresi, 10 - 14 Nisan 2019

A founder mutation uncovers MPZL2 (DFNB111) as a novel autosomal recessive non-syndromic moderate hearing loss gene

barbara v., Bademci G., Abad C., İNCESULU Ş. A., rad a., ALPER Ö., et al.

German Society of Human Genetics Meeting, 6 - 08 Nisan 2019

Using Whole Genome Sequencing to Identify Novel Variants in Branchio-Oto-Renal Syndrome

Quynh P., hermida a., amat d., gurkan h., DEMİR S., SEYHAN S., et al.

ACMG Annual Clinical Genetics Meeting, 2 - 06 Nisan 2019

İŞİTME KAYBI GENETİĞİ

DUMAN D.

Ankara Tıp Kulak Burun Boğaz Kliniği 4. Alumni Toplantısı, Türkiye, 14 - 15 Aralık 2018

Mitokondriyal kalıtım gösteren tanı konulamamış nadir nöroloji, psikiyatri, metabolizma hastalarında mitokondriyal DNA (mtDNA)’nın taranması

gencer oncül e. b., DUMAN D., EMİNOĞLU F. T., ERDOĞAN S., AKTUNA S., DUMAN B., et al.

Uluslararası katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Türkiye, 7 - 11 Kasım 2018

Association of TOMM40 (Rs1160985 and Rs157581) Polymorphisms with Alzehimer Disease

RAJAB M. F., gencer oncül e. b., TAŞTAN H., DUMAN D., DİRİK E. B., DUMAN M. T.

Uluslararası katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Türkiye, 7 - 11 Kasım 2018

Three novel hearing loss genes reveal previously unrecognized roles of their protein products in the perception of sound.

Bademci G., li c., Diaz-Horta O., abad c., vona b., Maroofian r., et al.

American Society of Human Genetics 2018 Annual Meeting, San Diego, 16 - 20 Ekim 2018

Sendromik olmayan işitme kayıplı Türk ailelerde sorumlu genlerin araştırılması

Duman D., Cengiz F. B., Bademci G., Subaşıoğlu A., Yılmaz S., Yıldırım Baylan M., et al.

Pediatrik Odyoloji Kongresi, Ankara, Türkiye, 5 - 07 Şubat 2018 Sürdürülebilir Kalkınma

A recessive variant in forkhead box domain of FOXF2 is associated with profound hearing loss and inner ear anomaly

Bademci G., Diaz-Horta O., İNCESULU Ş. A., Cengiz F. B., Abad C., Sineni C., et al.

American Society of Human Genetics 2017 Annual Meeting, ORLANDO, Amerika Birleşik Devletleri, 17 - 21 Ekim 2017

Non Sendromik Ailesel İşitme Kayıplı Hastalarda Genetik Analiz

YILDIRIM H., YILDIRIM BAYLAN M., DUMAN D., Bademci G.

5. Ulusal Otoloji Nörootoloji Kongresi, Antalya, Türkiye, 4 - 07 Mayıs 2017

Comprehensive Search for Deafness Genes Associated with Inner Ear Anomalies

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

American Society of Human Genetics 65th Annual Meeting, 6 - 10 Ekim 2015

Tedavi Edilebilir Bir Otizm Nedeni Olarak BCKD-Kinaz Eksikliği: İki Olgu Sunumu

ÖZTÜRK HİŞMİ B., AKAY H., ÖZBEK M. N., BACANLI A., KUMRU B., DUMAN D., et al.

XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Türkiye, 14 - 18 Nisan 2015

BCKD kinase deficiency Expanding the disease phenotypewith sensorineural hearing loss and transient acrodermatitisenteropathica like dermatitis

HİŞMİ B., ÖZTÜRKMEN AKAY H., BADEMCİ G., DUMAN D., BACANLI A., HİŞMİ A., et al.

SSIEM 2014 Annual Symposium, Innsbruck, Avusturya, 2 - 05 Eylül 2014, cilt.37, ss.174

Metrikler

Yayın

Atıf (WoS)

1838

H-İndeks (WoS)

Atıf (Scopus)

1884

H-İndeks (Scopus)

Proje

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler