Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

Por Sirmaci, Asli, Edwards, Yvonne J. K., Akay, Hatice, Tekin, Mustafa
Publicado em 2012

GPSM2 Mutations in Chudley-McCullough Syndrome

Por Diaz-Horta, Oscar, Sirmaci, Asli, Doherty, Dan, Nance, Walter, Arnos, Kathleen, Pandya, Arti, Tekin, Mustafa
Publicado em 2012

Research of genetic bases of hereditary non-syndromic hearing loss

Por Subaşıoğlu, Aslı, Duman, Duygu, Sırmacı, Aslı, Bademci, Güney, Carkıt, Fehime, Somdaş, Mehmet Akif, Erkan, Mustafa, Tekin, Mustafa, Dündar, Munis
Publicado no Turk Pediatri Ars (2017)

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Por Sirmaci, Asli, Walsh, Tom, Akay, Hatice, Spiliopoulos, Michail, Şakalar, Yıldırım Bayezit, Hasanefendioğlu-Bayrak, Aylin, Duman, Duygu, Farooq, Amjad, King, Mary-Claire, Tekin, Mustafa
Publicado em 2010

Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia

Por 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 
Publicado em 2007

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Por Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa
Publicado em 2011

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

Por Diaz-Horta, Oscar, Duman, Duygu, Foster, 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
Publicado em 2012

Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Por Diaz-Horta, Oscar, Duman, Duygu, Foster, 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
Publicado em 2013

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

Por 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
Publicado em 2010

Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise

Por Yan, Denise, Zhu, Yan, Walsh, Tom, Xie, Dinghua, Yuan, Huijun, Sirmaci, Asli, Fujikawa, Taro, Wong, Ann Chi Yan, Loh, Tze L., Du, Lilin, Grati, M’hamed, Vlajkovic, Srdjan M., Blanton, Susan, Ryan, Allen F., Chen, Zheng-Yi, Thorne, Peter R., Kachar, Bechara, Tekin, Mustafa, Zhao, Hong-Bo, Housley, Gary D., King, Mary-Claire, Liu, Xue Z.
Publicado em 2013

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

Por Yariz, Kemal O., Duman, Duygu, Seco, Celia Zazo, Dallman, Julia, Huang, Mingqian, Peters, Theo A., Sirmaci, Asli, Lu, Na, Schraders, Margit, Skromne, Isaac, Oostrik, Jaap, Diaz-Horta, Oscar, Young, Juan I., Tokgoz-Yilmaz, Suna, Konukseven, Ozlem, Shahin, Hashem, Hetterschijt, Lisette, Kanaan, Moien, Oonk, Anne M.M., Edwards, Yvonne J.K., Li, Huawei, Atalay, Semra, Blanton, Susan, DeSmidt, Alexandra A., Liu, Xue-Zhong, Pennings, Ronald J.E., Lu, Zhongmin, Chen, Zheng-Yi, Kremer, Hannie, Tekin, Mustafa
Publicado em 2012

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Por Riazuddin, Saima, Belyantseva, Inna A., Giese, Arnaud, Lee, Kwanghyuk, Indzhykulian, Artur A., Nandamuri, Sri Pratima, Yousaf, Rizwan, Sinha, Ghanshyam P., Lee, Sue, Terrell, David, Hegde, Rashmi S., Ali, Rana A., Anwar, Saima, Andrade-Elizondo, Paula B., Sirmaci, Asli, Parise, Leslie V., Basit, Sulman, Wali, Abdul, Ayub, Muhammad, Ansar, Muhammad, Ahmad, Wasim, Khan, Shaheen N., Akram, Javed, Tekin, Mustafa, Riazuddin, Sheikh, Cook, Tiffany, Buschbeck, Elke K., Frolenkov, Gregory I., Leal, Suzanne M., Friedman, Thomas B., Ahmed, Zubair M.
Publicado em 2012