Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

(2016) Clara D M van Karnebeek et al.   NATURE GENETICS

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused byTTLL5mutations

(2016) Xun Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Specialized Cilia in Mammalian Sensory Systems

(2015) Nathalie Falk et al.   Cells

Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

(2014) Panagiotis I. Sergouniotis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Causes and consequences of inherited cone disorders

(2014) Susanne Roosing et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

(2014) Clive J. Hoggart et al.   PLoS Genetics

Disruption ofTtll5/StampGene (Tubulin Tyrosine Ligase-like Protein 5/SRC-1 and TIF2-associated Modulatory Protein Gene) in Male Mice Causes Sperm Malformation and Infertility

(2013) Geun-Shik Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bardet–Biedl syndrome

(2012) Elizabeth Forsythe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Tubulin Tyrosine Ligase-like Genesttll3andttll6Maintain Zebrafish Cilia Structure and Motility

(2011) Narendra Pathak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tracing the origins of centrioles, cilia, and flagella

(2011) Zita Carvalho-Santos et al.   JOURNAL OF CELL BIOLOGY

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Characterization of mouse sperm TMEM190, a small transmembrane protein with the trefoil domain: evidence for co-localization with IZUMO1 and complex formation with other sperm proteins

(2011) Hitoshi Nishimura et al.   REPRODUCTION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry

(2010) K. Ikegami et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tubulin post-translational modifications: encoding functions on the neuronal microtubule cytoskeleton

(2010) Carsten Janke et al.   TRENDS IN NEUROSCIENCES

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

(2009) Norann A. Zaghloul et al.   JOURNAL OF CLINICAL INVESTIGATION

Nephronophthisis: Disease Mechanisms of a Ciliopathy

(2009) F. Hildebrandt et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

HomozygosityMapper--an interactive approach to homozygosity mapping

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

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

(2008) Mathieu Firmann et al.   BMC Cardiovascular Disorders

Polyglutamylation: a fine-regulator of protein function? ‘Protein Modifications: Beyond the Usual Suspects’ Review Series

(2008) Carsten Janke et al.   EMBO REPORTS