Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

(2012) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

(2012) Jana Djakow et al.   PEDIATRIC PULMONOLOGY

Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit?: Table 1

(2012) Claire Hogg et al.   THORAX

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

(2009) M Failly et al.   JOURNAL OF MEDICAL GENETICS

Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q

(2008) Maciej Geremek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS