Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

Por Menendez, Ibis, Carranza, Claudia, Herrera, Mariana, Marroquin, Nely, Foster, Joseph, Cengiz, Filiz Basak, Bademci, Guney, Tekin, Mustafa
Publicado no Clin Case Rep (2017)

Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss

Por Bademci, Guney, Diaz-Horta, Oscar, Guo, Shengru, Duman, Duygu, Van Booven, Derek, Foster II, Joseph, Cengiz, Filiz Basak, Blanton, Susan, Tekin, Mustafa
Publicado em 2014

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

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

Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

Por Klingbeil, Kyle D., Greenland, Christopher M., Arslan, Selcuk, Paneque, Arianne Llamos, Gurkan, Hakan, Ulusal, Selma Demir, Maroofian, Reza, Carrera-Gonzalez, Andrea, Montufar-Armendariz, Stefany, Paredes, Rosario, Elcioglu, Nursel, Menendez, Ibis, Behnam, Mahdiyeh, Foster, Joseph, Guo, Shengru, Escarfuller, Sebastian, Cengiz, Filiz Basak, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
Publicado no Int J Pediatr Otorhinolaryngol (2017)

Novel Pathogenic Variants Underlie SLC26A4-related Hearing Loss in a Multiethnic Cohort

Por Cengiz, Filiz Basak, Yilmazer, Rasim, Olgun, Levent, Sennaroglu, Levent, Kirazli, Tayfun, Alper, Hudaver, Olgun, Yuksel, Incesulu, Armagan, Atik, Tahir, Hernandez, Fabiola Huesca, Domínguez-Aburto, Juan, González-Rosado, Garly, Hernandez-Zamora, Edgar, de la Luz Arenas-Sordo, Maria, Menendez, Ibis, Orhan, Kadir Serkan, Avci, Hakan, Mahdieh, Nejat, Bonyadi, Mortaza, Foster, Joseph, Duman, Duygu, Ozkinay, Ferda, Blanton, Susan H., Bademci, Guney, Tekin, Mustafa
Publicado no Int J Pediatr Otorhinolaryngol (2017)