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Plos One|February 25, 2012
Challenges in whole exome sequencing: an example from hereditary deafnessAsli Sirmaci, Yvonne J K Edwards, Hatice Akay, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf childMustafa Tekin, Asli Sirmaci, Berrin Yüksel-Konuk, et al.
Genetic Testing and Molecular Biomarkers|December 2, 2010
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in TurkeyDuygu Duman, Asli Sirmaci, F Basak Cengiz, et al.
American Journal of Human Genetics|November 2, 2010
MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromesAsli Sirmaci, Tom Walsh, Hatice Akay, et al.
Genetic Testing and Molecular Biomarkers|July 21, 2010
Recurrent and private MYO15A mutations are associated with deafness in the Turkish populationF Basak Cengiz, Duygu Duman, Asli Sirmaci, et al.
American Journal of Human Genetics|January 20, 2007
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontiaMustafa Tekin, Burcu Oztürk Hişmi, Suat Fitoz, et al.
International Journal of Pediatric Otorhinolaryngology|August 29, 2012
Unique spectrum of GJB2 mutations in MexicoMaria de la Luz Arenas-Sordo, Ibis Menendez, Edgar Hernández-Zamora, et al.
American Journal of Human Genetics|July 26, 2011
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontiaAsli Sirmaci, Michail Spiliopoulos, Francesco Brancati, et al.
International Journal of Pediatric Otorhinolaryngology|February 4, 2009
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutationsAsli Sirmaci, Duygu Duman, Hatice Oztürkmen-Akay, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 25, 2013
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noiseDenise Yan, Yan Zhu, Tom Walsh, et al.
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