Copy number variations in neurodevelopmental disorders
Common neurodevelopmental disorders (including autism, speech and language delay,
schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is …
schizophrenia, epilepsy and intellectual disability) have complex aetiology, which is …
Copy number and SNP arrays in clinical diagnostics
CP Schaaf, J Wiszniewska… - Annual review of …, 2011 - annualreviews.org
The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic
abnormalities has revolutionized the clinical diagnostic approach to individuals with …
abnormalities has revolutionized the clinical diagnostic approach to individuals with …
Defining the effect of the 16p11. 2 duplication on cognition, behavior, and medical comorbidities
Importance The 16p11. 2 BP4-BP5 duplication is the copy number variant most frequently
associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as …
associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as …
Dosage-dependent phenotypes in models of 16p11. 2 lesions found in autism
Recurrent copy number variations (CNVs) of human 16p11. 2 have been associated with a
variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11. 2 is …
variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11. 2 is …
A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders
F Zufferey, EH Sherr, ND Beckmann… - Journal of medical …, 2012 - jmg.bmj.com
Background The recurrent∼ 600 kb 16p11. 2 BP4-BP5 deletion is among the most frequent
known genetic aetiologies of autism spectrum disorder (ASD) and related …
known genetic aetiologies of autism spectrum disorder (ASD) and related …
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder
Schizophrenia (SCZ) and bipolar disorder (BD) are highly heritable psychiatric disorders
with overlapping susceptibility loci and symptomatology. We conducted a genome-wide …
with overlapping susceptibility loci and symptomatology. We conducted a genome-wide …
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways
AJ Griswold, D Ma, HN Cukier… - Human molecular …, 2012 - academic.oup.com
Autism spectrum disorders (ASDs) are highly heritable, yet relatively few associated genetic
loci have been replicated. Copy number variations (CNVs) have been implicated in autism; …
loci have been replicated. Copy number variations (CNVs) have been implicated in autism; …
16p11. 2 deletion syndrome mice display sensory and ultrasonic vocalization deficits during social interactions
M Yang, EJ Mahrt, F Lewis, G Foley… - Autism …, 2015 - Wiley Online Library
Recurrent deletions and duplications at chromosomal region 16p11. 2 are variably
associated with speech delay, autism spectrum disorder, developmental delay …
associated with speech delay, autism spectrum disorder, developmental delay …
A highly penetrant form of childhood apraxia of speech due to deletion of 16p11. 2
E Fedorenko, A Morgan, E Murray… - European Journal of …, 2016 - nature.com
Abstract Individuals with heterozygous 16p11. 2 deletions reportedly suffer from a variety of
difficulties with speech and language. Indeed, recent copy-number variant screens of …
difficulties with speech and language. Indeed, recent copy-number variant screens of …
Autism spectrum disorder, developmental and psychiatric features in 16p11. 2 duplication
LA Green Snyder, D D'Angelo, Q Chen… - Journal of autism and …, 2016 - Springer
Abstract The 16p11. 2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder
(ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and …
(ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and …