Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
Diaz-Horta, Oscar, Duman, Duygu, Foster, 2nd, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz Başak, Menendez, Ibis, Ulloa, Rick H, Edwards, Yvonne J K, Züchner, Stephan, Blanton, Susan, Tekin, Mustafa
Published in PloS one (30.11.2012)
Published in PloS one (30.11.2012)
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Journal Article
A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss
Sırmacı, Aslı, Erbek, Seyra, Price, Justin, Huang, Mingqian, Duman, Duygu, Cengiz, F. Başak, Bademci, Güney, Tokgöz-Yılmaz, Suna, Hişmi, Burcu, Özdağ, Hilal, Öztürk, Banu, Kulaksızoğlu, Sevsen, Yıldırım, Erkan, Kokotas, Haris, Grigoriadou, Maria, Petersen, Michael B., Shahin, Hashem, Kanaan, Moien, King, Mary-Claire, Chen, Zheng-Yi, Blanton, Susan H., Liu, Xue Z., Zuchner, Stephan, Akar, Nejat, Tekin, Mustafa
Published in American journal of human genetics (14.05.2010)
Published in American journal of human genetics (14.05.2010)
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Journal Article
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, Mustafa, Hişmi, Burcu Öztürk, Fitoz, Suat, Özdağ, Hilal, Cengiz, Filiz Başak, Sırmacı, Aslı, Aslan, İdil, İnceoğlu, Bora, Yüksel-Konuk, E. Berrin, Yılmaz, Seda Taşır, Yasun, Öztan, Akar, Nejat
Published in American journal of human genetics (01.02.2007)
Published in American journal of human genetics (01.02.2007)
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Journal Article
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
İnci, Aslı, Ergin, Filiz Başak Cengiz, Yüce, Burcu Topcu, Çiftçi, Bahattin, Demir, Ercan, Buyan, Necla, Okur, İlyas, Biberoğlu, Gürsel, Öktem, Rıdvan Murat, Tümer, Leyla, Ezgü, Fatih Süheyl
Published in Journal of bone and mineral metabolism (01.07.2021)
Published in Journal of bone and mineral metabolism (01.07.2021)
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Journal Article
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents
Yan, Denise, Tekin, Demet, Bademci, Guney, Foster, Joseph, Cengiz, F. Basak, Kannan-Sundhari, Abhiraami, Guo, Shengru, Mittal, Rahul, Zou, Bing, Grati, Mhamed, Kabahuma, Rosemary I., Kameswaran, Mohan, Lasisi, Taye J., Adedeji, Waheed A., Lasisi, Akeem O., Menendez, Ibis, Herrera, Marianna, Carranza, Claudia, Maroofian, Reza, Crosby, Andrew H., Bensaid, Mariem, Masmoudi, Saber, Behnam, Mahdiyeh, Mojarrad, Majid, Feng, Yong, Duman, Duygu, Mawla, Alex M., Nord, Alex S., Blanton, Susan H., Liu, Xue Z., Tekin, Mustafa
Published in Human genetics (01.08.2016)
Published in Human genetics (01.08.2016)
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Journal Article
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
Diaz-Horta, Oscar, Abad, Clemer, Sennaroglu, Levent, Foster, Joseph, DeSmidt, Alexandra, Bademci, Guney, Tokgoz-Yilmaz, Suna, Duman, Duygu, Cengiz, F. Basak, Grati, M’hamed, Fitoz, Suat, Liu, Xue Z., Farooq, Amjad, Imtiaz, Faiqa, Currall, Benjamin B., Morton, Cynthia Casson, Nishita, Michiru, Minami, Yasuhiro, Lu, Zhongmin, Walz, Katherina, Tekin, Mustafa
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2016)
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Journal Article
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
Diaz-Horta, Oscar, Subasioglu-Uzak, Asli, Grati, M'hamed, DeSmidt, Alexandra, Foster, Joseph, Cao, Lei, Bademci, Guney, Tokgoz-Yilmaz, Suna, Duman, Duygu, Cengiz, F. Basak, Abad, Clemer, Mittal, Rahul, Blanton, Susan, Liu, Xue Z., Farooq, Amjad, Walz, Katherina, Lu, Zhongmin, Tekin, Mustafa
Published in Proceedings of the National Academy of Sciences - PNAS (08.07.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (08.07.2014)
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Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features
İnci, Aslı, Cengiz, Başak, Biberoğlu, Gürsel, Okur, İlyas, Arhan, Ebru, Öner, Ali Yusuf, Kasapkara, Çiğdem Seher, Küçükçongar, Aynur, Tümer, Leyla, Ezgu, Fatih
Published in American journal of medical genetics. Part A (01.09.2021)
Published in American journal of medical genetics. Part A (01.09.2021)
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Journal Article
A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene
Ergin, Filiz Başak Cengiz, Tekin, Mustafa, Güneş, Meltem, Güneş, Begüm, Baysun, Şahika, Akar, Nejat
Published in Egyptian Journal of Medical Human Genetics (19.01.2022)
Published in Egyptian Journal of Medical Human Genetics (19.01.2022)
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Journal Article
SLITRK6 mutations cause myopia and deafness in humans and mice
Tekin, Mustafa, Chioza, Barry A, Matsumoto, Yoshifumi, Diaz-Horta, Oscar, Cross, Harold E, Duman, Duygu, Kokotas, Haris, Moore-Barton, Heather L, Sakoori, Kazuto, Ota, Maya, Odaka, Yuri S, Foster, 2nd, Joseph, Cengiz, F Basak, Tokgoz-Yilmaz, Suna, Tekeli, Oya, Grigoriadou, Maria, Petersen, Michael B, Sreekantan-Nair, Ajith, Gurtz, Kay, Xia, Xia-Juan, Pandya, Arti, Patton, Michael A, Young, Juan I, Aruga, Jun, Crosby, Andrew H
Published in The Journal of clinical investigation (01.05.2013)
Published in The Journal of clinical investigation (01.05.2013)
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Journal Article
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation
Diaz-Horta, Oscar, Abad, Clemer, Cengiz, Filiz Basak, Bademci, Guney, Blackwelder, Pat, Walz, Katherina, Tekin, Mustafa
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2018)
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2018)
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Journal Article
GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf
Tekin, Mustafa, Xia, Xia‐Juan, Erdenetungalag, Radnaabazar, Cengiz, Filiz Basak, White, Thomas W., Radnaabazar, Janchiv, Dangaasuren, Begzsuren, Tastan, Hakki, Nance, Walter E., Pandya, Arti
Published in Annals of human genetics (01.03.2010)
Published in Annals of human genetics (01.03.2010)
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Journal Article
HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction
Bulum, Burcu, Özçakar, Z. Birsin, Duman, Duygu, Cengiz, Filiz Başak, Kavaz, Aslı, Burgu, Berk, Baskın, Esra, Çakar, Nilgün, Soygür, Tarkan, Ekim, Mesiha, Tekin, Mustafa, Yalçınkaya, Fatoş
Published in Nephron (01.01.2015)
Published in Nephron (01.01.2015)
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Journal Article
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
McSherry, Megan, Masih, Katherine E, Elcioglu, Nursel H, Celik, Pelin, Balci, Ozge, Cengiz, Filiz Basak, Nunez, Daniella, Sineni, Claire J, Seyhan, Serhat, Kocaoglu, Defne, Guo, Shengru, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
Published in PloS one (30.11.2018)
Published in PloS one (30.11.2018)
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Journal Article
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
Tekin, Mustafa, Cengiz, Filiz Başak, Ayberkin, Eda, Kendirli, Tanıl, Fitoz, Suat, Tutar, Ercan, Çiftçi, Ergin, Conba, Atakan
Published in American journal of medical genetics. Part A (15.04.2007)
Published in American journal of medical genetics. Part A (15.04.2007)
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Journal Article
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations
Sırmacı, Aslı, Duman, Duygu, Öztürkmen-Akay, Hatice, Erbek, Seyra, İncesulu, Armağan, Öztürk-Hişmi, Burcu, Arıcı, Z. Serap, Yüksel-Konuk, E. Berrin, Taşır-Yılmaz, Seda, Tokgöz-Yılmaz, Suna, Cengiz, Filiz Başak, Aslan, İdil, Yıldırım, Müzeyyen, Hasanefendioğlu-Bayrak, Aylin, Ayçiçek, Abdullah, Yılmaz, İsmail, Fitoz, Suat, Altın, Fazilet, Özdağ, Hilal, Tekin, Mustafa
Published in International journal of pediatric otorhinolaryngology (01.05.2009)
Published in International journal of pediatric otorhinolaryngology (01.05.2009)
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Journal Article
Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
Diaz-Horta, Oscar, Duman, Duygu, Foster, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz BaÅak, Menendez, Ibis, Ulloa, Rick H., Edwards, Yvonne J. K., Züchner, Stephan, Blanton, Susan, Tekin, Mustafa
Published in PloS one (17.05.2013)
Published in PloS one (17.05.2013)
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Journal Article
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation
Yıldız, Çisem, Gezgin Yıldırım, Deniz, Inci, Asli, Tümer, Leyla, Cengiz Ergin, Filiz Basak, Sunar Yayla, Emine Nur Sunar, Esmeray Şenol, Pelin, Karaçayır, Nihal, Eğritaş Gürkan, Ödül, Okur, Ilyas, Ezgü, Fatih S., Bakkaloğlu, Sevcan A.
Published in Joint, bone, spine : revue du rhumatisme (01.01.2023)
Published in Joint, bone, spine : revue du rhumatisme (01.01.2023)
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Journal Article
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
Bademci, Guney, Foster, Joseph, Mahdieh, Nejat, Bonyadi, Mortaza, Duman, Duygu, Cengiz, F.Basak, Menendez, Ibis, Diaz-Horta, Oscar, Shirkavand, Atefeh, Zeinali, Sirous, Subasioglu, Asli, Tokgoz-Yilmaz, Suna, Huesca-Hernandez, Fabiola, de la Luz Arenas-Sordo, Maria, Dominguez-Aburto, Juan, Hernandez-Zamora, Edgar, Montenegro, Paola, Paredes, Rosario, Moreta, Germania, Vinueza, Rodrigo, Villegas, Franklin, Mendoza-Benitez, Santiago, Guo, Shengru, Bozan, Nazim, Tos, Tulay, Incesulu, Armagan, Sennaroglu, Gonca, Blanton, Susan H., Ozturkmen-Akay, Hatice, Yildirim-Baylan, Muzeyyen, Tekin, Mustafa
Published in Genetics in medicine (01.04.2016)
Published in Genetics in medicine (01.04.2016)
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