Mutation analysis in patients with total sperm immotility

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

(2013) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sperm-Associated Antigen–17 Gene Is Essential for Motile Cilia Function and Neonatal Survival

(2013) Maria Eugenia Teves et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Neohormones as biomarkers of reproductive health

(2013) Ravinder Anand-Ivell et al.   FERTILITY AND STERILITY

Variobox: Automatic Detection and Annotation of Human Genetic Variants

(2013) Paulo Gaspar et al.   HUMAN MUTATION

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

(2013) Maureen Wirschell et al.   NATURE GENETICS

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

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

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

Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction

(2012) Jian Ye et al.   BMC BIOINFORMATICS

Primary ciliary dyskinesia, an orphan disease

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

Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

(2012) Dinu Antony et al.   HUMAN MUTATION

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

(2012) Jennifer R Panizzi et al.   NATURE GENETICS

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

(2012) Andrea Franceschini et al.   NUCLEIC ACIDS RESEARCH

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

(2012) Jana Djakow et al.   PEDIATRIC PULMONOLOGY

R171H missense mutation of INSL6 in a patient with spermatogenic failure

(2011) Guo-Wu Chen et al.   European Journal of Medical Genetics

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Absolute asthenozoospermia and ICSI: what are the options?

(2011) C. Ortega et al.   HUMAN REPRODUCTION UPDATE

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

The making of abnormal spermatozoa: cellular and molecular mechanisms underlying pathological spermiogenesis

(2010) Hector E. Chemes et al.   CELL AND TISSUE RESEARCH

Role of a-kinase anchoring proteins (AKAPs) in reproduction

(2010) Michaela Luconi   Frontiers in Bioscience-Landmark

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

(2010) Anita Becker-Heck et al.   NATURE GENETICS

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Inactivation of Insulin-Like Factor 6 Disrupts the Progression of Spermatogenesis at Late Meiotic Prophase

(2009) Ozanna Burnicka-Turek et al.   ENDOCRINOLOGY

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

(2009) Margaret W Leigh et al.   GENETICS IN MEDICINE

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear

(2008) Jessica R. Colantonio et al.   NATURE

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

(2007) Georg C. Schwabe et al.   HUMAN MUTATION