A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed inWACmutations and strengthens the role ofWACin intellectual disability and behavior disorders

Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31

(2015) Simona Sosoi et al.   JOURNAL OF HUMAN GENETICS

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

(2015) Cori DeSanto et al.   JOURNAL OF MEDICAL GENETICS

Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism

(2014) Henry J. Mroczkowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

(2013) Mark T. Handley et al.   HUMAN MUTATION

Combined exome and whole-genome sequencing identifies mutations inARMC4as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

(2013) Alexandros Onoufriadis et al.   JOURNAL OF MEDICAL GENETICS

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

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

(2011) Danai Bem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density

(2011) Su-Mei Xiao et al.   HUMAN MOLECULAR GENETICS

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

(2011) Feng Zhang et al.   MOLECULAR CELL

The genetic basis of non-syndromic intellectual disability: a review

(2010) Liana Kaufman et al.   Journal of Neurodevelopmental Disorders

The Mohawk homeobox gene is a critical regulator of tendon differentiation

(2010) Y. Ito et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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