A. Uzumcu

Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.

B. Tatlı, H. Kayserili, G. Toksoy, 2009, European journal of medical genetics.

Mutations in different components of FGF signaling in LADD syndrome

C. Cremers, H. Brunner, H. Kayserili, 2006, Nature Genetics.

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

C. Cremers, E. Krieger, H. Brunner, 2007, American Journal of Medical Genetics. Part A.

Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome.

B. Tatlı, H. Kayserili, G. Toksoy, 2009, Journal of genetics and genomics = Yi chuan xue bao.

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

H. Hennies, H. Kayserili, R. Desnick, 2005, Journal of Medical Genetics.

Frequencies of gap‐ and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss

B. Wollnik, O. Uyguner, M. Yuksel-Apak, 2003, Clinical genetics.

Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

D. Kelsell, H. Kayserili, I. Leigh, 2005, Journal of Medical Genetics.