Identification of disruptedAUTS2andEPHA6genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder

De novo exon 1 deletion ofAUTS2gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review

(2015) Yi Liu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

(2014) Toshifumi Suzuki et al.   JOURNAL OF HUMAN GENETICS

Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

(2014) Kagistia H. Utami et al.   PLoS One

PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature

(2014) Dagmar Denk et al.   Molecular Cytogenetics

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

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

(2013) Caroline Schluth-Bolard et al.   JOURNAL OF MEDICAL GENETICS

Ade novoX;8 translocation creates aPTK2-THOC2gene fusion withTHOC2expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

(2013) Eleonora Di Gregorio et al.   JOURNAL OF MEDICAL GENETICS

Rare autosomal copy number variations in early-onset familial Alzheimer’s disease

(2013) B V Hooli et al.   MOLECULAR PSYCHIATRY

The role of AUTS2 in neurodevelopment and human evolution

(2013) Nir Oksenberg et al.   TRENDS IN GENETICS

Eph/ephrin signalling during development

(2012) R. Klein   DEVELOPMENT

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

PAX5-AUTS2: A recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia

(2012) Dagmar Denk et al.   LEUKEMIA RESEARCH

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

(2011) N. L. M. Sobreira et al.   GENOME RESEARCH

A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases

(2010) Joseph T. Glessner et al.   AMERICAN JOURNAL OF HUMAN 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

PAX5-AUTS2 fusion resulting from t(7;9)(q11.2;p13.2) can now be classified as recurrent in B cell acute lymphoblastic leukemia

(2010) E. Coyaud et al.   LEUKEMIA RESEARCH

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

(2009) Wei Chen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features

(2009) Marie-Reine Haddad et al.   European Journal of Medical Genetics

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

(2009) Caroline Schluth-Bolard et al.   European Journal of Medical Genetics

Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene

(2009) I. Slade et al.   JOURNAL OF MEDICAL GENETICS

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

(2009) J Elia et al.   MOLECULAR PSYCHIATRY

Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays

(2009) Susan M Gribble et al.   Nature Protocols

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

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

Learning and memory impairment in Eph receptor A6 knockout mice

(2008) Katerina V. Savelieva et al.   NEUROSCIENCE LETTERS

Cloning of genes involved in chromosomal translocations by high-resolution single nucleotide polymorphism genomic microarray

(2008) N. Kawamata et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA