Beunders G et. al., A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype., J Med Genet, 2016 |
Beunders G et. al., Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome., Eur J Hum Genet, 2015 |
McCarthy SE et. al., De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability., Mol Psychiatry, 2014 |
Girirajan S et. al., Relative burden of large CNVs on a range of neurodevelopmental phenotypes., PLoS Genet, 2011 |
Asadollahi R et. al., The clinical significance of small copy number variants in neurodevelopmental disorders., J Med Genet, 2014 |
Deciphering Developmental Disorders Study. et. al., Large-scale discovery of novel genetic causes of developmental disorders., Nature, 2015 |
C Yuen RK et. al., Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder., Nat Neurosci, 2017 |
Stojanovic JR et. al., Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability., J Child Neurol, 2020 |
Mefford HC et. al., Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies., PLoS Genet, 2010 |
Nagamani SC et. al., Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders., Eur J Hum Genet, 2013 |
Beunders G et. al., Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus., Am J Hum Genet, 2013 |
Balicza P et. al., Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients., Front Genet, 2019 |
Amarillo IE et. al., De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders., Am J Med Genet A, 2014 |