Publications by authors named "Basak Cengiz"

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Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in .
Merve Emecen Sanli, Basak Cengiz, Ayse Kilic, Ekin Ozsaydi, Asli Inci

J Pediatr Endocrinol Metab· April 2022

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Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.
Aslı İnci, Başak Cengiz, Gürsel Biberoğlu, İlyas Okur, Ebru Arhan

Am J Med Genet A· September 2021

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Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.
Gabrielle N Manzoli, Guney Bademci, Angelina X Acosta, Têmis M Félix, F Basak Cengiz

Ann Hum Genet· November 2016

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Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Denise Yan, Demet Tekin, Guney Bademci, Joseph Foster, F Basak Cengiz

Hum Genet· August 2016

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ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Oscar Diaz-Horta, Clemer Abad, Levent Sennaroglu, Joseph Foster, Alexandra DeSmidt, F Basak Cengiz

Proc Natl Acad Sci U S A· May 2016

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Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Guney Bademci, Joseph Foster, Nejat Mahdieh, Mortaza Bonyadi, Duygu Duman, F Basak Cengiz

Genet Med· April 2016

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FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Oscar Diaz-Horta, Asli Subasioglu-Uzak, M'hamed Grati, Alexandra DeSmidt, Joseph Foster, F Basak Cengiz

Proc Natl Acad Sci U S A· July 2014

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SLITRK6 mutations cause myopia and deafness in humans and mice.
Mustafa Tekin, Barry A Chioza, Yoshifumi Matsumoto, Oscar Diaz-Horta, Harold E Cross, F Basak Cengiz

J Clin Invest· May 2013

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Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
Duygu Duman, Asli Sirmaci, F Basak Cengiz, Hilal Ozdag, Mustafa Tekin

Genet Test Mol Biomarkers· July 2011

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Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.
F Basak Cengiz, Duygu Duman, Asli Sirmaci, Suna Tokgöz-Yilmaz, Seyra Erbek

Genet Test Mol Biomarkers· August 2010

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A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Asli Sirmaci, Seyra Erbek, Justin Price, Mingqian Huang, Duygu Duman, F Başak Cengiz

Am J Hum Genet· May 2010

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Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.
Z Birsin Ozçakar, F Başak Cengiz, Nilgün Cakar, Nermin Uncu, Nazli Kara

Pediatr Nephrol· August 2006

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