An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

por Falcone, Michelle, Yariz, Kemal O., Ross, David B., Foster, Joseph, Menendez, Ibis, Tekin, Mustafa
Publicado 2013

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 2017

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

por Bademci, Guney, Lasisi, Akeem O, Yariz, Kemal O, Montenegro, Paola, Menendez, Ibis, Vinueza, Rodrigo, Paredes, Rosario, Moreta, Germania, Subasioglu, Asli, Blanton, Susan, Fitoz, Suat, Incesulu, Armagan, Sennaroglu, Levent, Tekin, Mustafa
Publicado 2015

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 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 2013

Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort

por Bademci, Guney, Foster, Joseph, Mahdieh, Nejat, Bonyadi, Mortaza, Duman, Duygu, Cengiz, F.Basak, Menendez, Ibis, Horta, Oscar Diaz, Shirkavand, Atefeh, Zeinali, Sirous, Subasioglu, Asli, Tokgoz-Yilmaz, Suna, Hernandez, Fabiola Huesca, 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
Publicado 2015