WACloss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

(2013) Johanna Czeschik et al.   Orphanet Journal of Rare Diseases

Coiling up with SCOC and WAC

(2012) Justin Joachim et al.   Autophagy

Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC

(2012) Nicole C McKnight et al.   EMBO JOURNAL

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

(2012) Nana Okamoto et al.   JOURNAL OF HUMAN GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

(2011) Christian Wentzel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

WAC, a Functional Partner of RNF20/40, Regulates Histone H2B Ubiquitination and Gene Transcription

(2011) Feng Zhang et al.   MOLECULAR CELL

Cutting the nonsense: the degradation of PTC-containing mRNAs

(2010) Pamela Nicholson et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Wac: a new Augmin subunit required for chromosome alignment but not for acentrosomal microtubule assembly in female meiosis

(2009) Ana M. Meireles et al.   JOURNAL OF CELL BIOLOGY