Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

De novo single exon deletion ofAUTS2in a patient with speech and language disorder: A review of disruptedAUTS2and further evidence for its role in neurodevelopmental disorders

(2014) Ina E. Amarillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

(2013) Gea Beunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo intragenic deletion of theautism susceptibility candidate 2(AUTS2) gene in a patient with developmental delay: A case report and literature review

(2013) Alexandra Jolley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders

(2013) Maria Tropeano et al.   PLoS One

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

WAVE2–Abi2 Complex Controls Growth Cone Activity and Regulates the Multipolar–Bipolar Transition as well as the Initiation of Glia-Guided Migration

(2012) Min-Jue Xie et al.   CEREBRAL CORTEX

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

(2012) Sandesh C S Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Abl-interactor 2 (ABI2): A novel MLL translocation partner in acute myeloid leukemia

(2012) Eva A. Coenen et al.   LEUKEMIA RESEARCH

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

CNV-WebStore: Online CNV Analysis, Storage and Interpretation

(2011) Geert Vandeweyer et al.   BMC BIOINFORMATICS

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

(2010) Xin-Li Huang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

(2008) Betul Bakkaloglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS