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

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

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

Por Chakchouk, Imen, Grati, M’hamed, Bademci, Guney, Bensaid, Mariem, Ma, Qi, Chakroun, Amine, Foster, Joseph, Yan, Denise, Duman, Duygu, Diaz-Horta, Oscar, Ghorbel, Abdelmonem, Mittal, Rahul, Farooq, Amjad, Tekin, Mustafa, Masmoudi, Saber, Liu, Xue Zhong
Publicado no Mol Genet Genomics (2015)

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Por 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
Publicado em 2014

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Por 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
Publicado no Proc Natl Acad Sci U S A (2016)

SLITRK6 mutations cause myopia and deafness in humans and mice

Por 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, 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.
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