[HTML][HTML] The 16p11. 2 locus modulates brain structures common to autism, schizophrenia and obesity
AM Maillard, A Ruef, F Pizzagalli, E Migliavacca… - Molecular …, 2015 - nature.com
Anatomical structures and mechanisms linking genes to neuropsychiatric disorders are not
deciphered. Reciprocal copy number variants at the 16p11. 2 BP4-BP5 locus offer a unique …
deciphered. Reciprocal copy number variants at the 16p11. 2 BP4-BP5 locus offer a unique …
[HTML][HTML] The number of genomic copies at the 16p11. 2 locus modulates language, verbal memory, and inhibition
L Hippolyte, AM Maillard, B Rodriguez-Herreros… - Biological …, 2016 - Elsevier
Background Deletions and duplications of the 16p11. 2 BP4-BP5 locus are prevalent copy
number variations (CNVs), highly associated with autism spectrum disorder and …
number variations (CNVs), highly associated with autism spectrum disorder and …
Association of copy number variation of the 15q11. 2 BP1-BP2 region with cortical and subcortical morphology and cognition
Importance Recurrent microdeletions and duplications in the genomic region 15q11. 2
between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental …
between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental …
Autism-associated 16p11. 2 microdeletion impairs prefrontal functional connectivity in mouse and human
Human genetic studies are rapidly identifying variants that increase risk for
neurodevelopmental disorders. However, it remains unclear how specific mutations impact …
neurodevelopmental disorders. However, it remains unclear how specific mutations impact …
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 …
[HTML][HTML] Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
Copy number variants (CNVs) are major contributors to genomic imbalance disorders.
Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal …
Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal …
[HTML][HTML] Quantifying the effects of 16p11. 2 copy number variants on brain structure: a multisite genetic-first study
Abstract Background 16p11. 2 breakpoint 4 to 5 copy number variants (CNVs) increase the
risk for developing autism spectrum disorder, schizophrenia, and language and cognitive …
risk for developing autism spectrum disorder, schizophrenia, and language and cognitive …
[PDF][PDF] A potential contributory role for ciliary dysfunction in the 16p11. 2 600 kb BP4-BP5 pathology
E Migliavacca, C Golzio, K Männik, I Blumenthal… - The American Journal of …, 2015 - cell.com
The 16p11. 2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes
on BMI, head circumference, and brain volume and represent frequent genetic lesions in …
on BMI, head circumference, and brain volume and represent frequent genetic lesions in …
Opposing brain differences in 16p11. 2 deletion and duplication carriers
Deletions and duplications of the recurrent∼ 600 kb chromosomal BP4–BP5 region of
16p11. 2 are associated with a broad variety of neurodevelopmental outcomes including …
16p11. 2 are associated with a broad variety of neurodevelopmental outcomes including …
Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer
R Tabares-Seisdedos, JLR Rubenstein - Molecular psychiatry, 2009 - nature.com
Defects in genetic and developmental processes are thought to contribute susceptibility to
autism and schizophrenia. Presumably, owing to etiological complexity identifying …
autism and schizophrenia. Presumably, owing to etiological complexity identifying …