Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

(2013) Petro Starokadomskyy et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort

(2013) Alison M Elliott et al.   JOURNAL OF MEDICAL GENETICS

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

(2012) T. Kamphans et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Recruitment of the endosomal WASH complex is mediated by the extended ‘tail’ of Fam21 binding to the retromer protein Vps35

(2011) Michael E. Harbour et al.   BIOCHEMICAL JOURNAL

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP

(2011) F. Ropers et al.   HUMAN MOLECULAR GENETICS

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

(2011) I Voineagu et al.   MOLECULAR PSYCHIATRY

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

(2010) Sevjidmaa Baasanjav et al.   BMC Medical Genetics

The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

(2010) Simon P. Brooks et al.   HUMAN MOLECULAR GENETICS

The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics

(2010) M. E. Harbour et al.   JOURNAL OF CELL SCIENCE

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

The Arp2/3 Activator WASH Controls the Fission of Endosomes through a Large Multiprotein Complex

(2009) Emmanuel Derivery et al.   DEVELOPMENTAL CELL

A FAM21-Containing WASH Complex Regulates Retromer-Dependent Sorting

(2009) Timothy S. Gomez et al.   DEVELOPMENTAL CELL

COMMD1 Forms Oligomeric Complexes Targeted to the Endocytic Membranes via Specific Interactions with Phosphatidylinositol 4,5-Bisphosphate

(2008) Jason L. Burkhead et al.   JOURNAL OF BIOLOGICAL CHEMISTRY