Variation in DNAH1 may contribute to primary ciliary dyskinesia

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

(2013) Mariem Ben Khelifa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary ciliary dyskinesia, an orphan disease

(2012) Mieke Boon et al.   EUROPEAN JOURNAL OF PEDIATRICS

Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

(2011) Masha Mazor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

(2010) C. E. Kuehni et al.   EUROPEAN RESPIRATORY JOURNAL

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

(2009) Victoria H. Castleman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH