The general impact of haploinsufficiency on brain connectivity underlies the pleiotropic effect of neuropsychiatric CNVs
Background Resting-state functional MRI studies have provided critical insight into brain
networks involved in neuropsychiatric conditions (NPs) but only a few studies have …
networks involved in neuropsychiatric conditions (NPs) but only a few studies have …
Metabolic effects of the schizophrenia-associated 3q29 deletion
RM Pollak, RH Purcell, TP Rutkowski, T Malone… - Translational …, 2022 - nature.com
Abstract The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric
phenotypes, including a 40-fold increased risk for schizophrenia. Reduced birth weight and …
phenotypes, including a 40-fold increased risk for schizophrenia. Reduced birth weight and …
X-chromosome inactivation in human iPSCs provides insight into escape-regulated gene expression.
H Topa, C Benoit-Pilven, T Tukiainen, O Pietilainen - bioRxiv, 2023 - biorxiv.org
Epigenetic variation in the X chromosome inactivation (XCI) of human induced pluripotent
stem cells (hiPSCs) can impact their ability to accurately model biological sex biases …
stem cells (hiPSCs) can impact their ability to accurately model biological sex biases …
Editorial overview: Rare CNV disorders and neuropsychiatric phenotypes: opportunities, challenges, solutions
In this issue, our outstanding colleagues review the recent exponential growth in our
understanding of copy number variants (CNV) in neuropsychiatric disorders. The impact of …
understanding of copy number variants (CNV) in neuropsychiatric disorders. The impact of …
Neuropsychiatric mutations delineate functional brain connectivity dimensions contributing to autism and schizophrenia
Abstract 16p11. 2 and 22q11. 2 Copy Number Variants (CNVs) confer high risk for Autism
Spectrum Disorder (ASD), schizophrenia (SZ), and Attention-Deficit-Hyperactivity-Disorder …
Spectrum Disorder (ASD), schizophrenia (SZ), and Attention-Deficit-Hyperactivity-Disorder …
[HTML][HTML] A cross-comparison of cognitive ability across 8 genomic disorders
M Mortillo, JG Mulle - Current opinion in genetics & development, 2021 - Elsevier
Genomic disorders result from rearrangement of the human genome. Most genomic
disorders are caused by copy number variants (CNV), deletions or duplications of several …
disorders are caused by copy number variants (CNV), deletions or duplications of several …
Desórdenes del neurodesarrollo: del laboratorio al aula de clase
MT Acosta - Medicina (Buenos Aires), 2022 - SciELO Argentina
Los desórdenes del Neurodesarrollo son en conjunto los diagnósticos más frecuentes en la
práctica clínica en Neurología Infantil. De los años 70', se desarrolló una terminología usada …
práctica clínica en Neurología Infantil. De los años 70', se desarrolló una terminología usada …
Research and training in autism spectrum disorder to catalyze the next genomic and neuroscience revolutions
Autism spectrum disorder (ASD) is a group of neuropsychiatric conditions that manifest in
early development and are characterized by deficits in social behavior and communication …
early development and are characterized by deficits in social behavior and communication …
Genetic Engineering of Nonhuman Primate Models for Studying Neurodevelopmental Disorders
R Suresh, P Megagiannis, H Chen, R Landman… - … Research Methods in …, 2022 - Springer
Neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), represent
a group of highly prevalent, early onset conditions featured by neural and behavioral …
a group of highly prevalent, early onset conditions featured by neural and behavioral …
Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergence
Copy number variations (CNVs) are rare genomic deletions and duplications that can exert
profound effects on brain and behavior. Previous reports of pleiotropy in CNVs imply that …
profound effects on brain and behavior. Previous reports of pleiotropy in CNVs imply that …