Genetic causes and modifiers of autism spectrum disorder
L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
PF Sullivan, DH Geschwind - Cell, 2019 - cell.com
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries
This review summarizes the last decade of work by the ENIGMA (E nhancing N euro I
maging G enetics through M eta A nalysis) Consortium, a global alliance of over 1400 …
maging G enetics through M eta A nalysis) Consortium, a global alliance of over 1400 …
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
MJ Gandal, JR Haney, NN Parikshak, V Leppa… - Science, 2018 - science.org
The predisposition to neuropsychiatric disease involves a complex, polygenic, and
pleiotropic genetic architecture. However, little is known about how genetic variants impart …
pleiotropic genetic architecture. However, little is known about how genetic variants impart …
The genetics of bipolar disorder
FJA Gordovez, FJ McMahon - Molecular psychiatry, 2020 - nature.com
Bipolar disorder (BD) is one of the most heritable mental illnesses, but the elucidation of its
genetic basis has proven to be a very challenging endeavor. Genome-Wide Association …
genetic basis has proven to be a very challenging endeavor. Genome-Wide Association …
Incomplete penetrance and variable expressivity: from clinical studies to population cohorts
R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
phenotypes, from no discernible clinical phenotype to severe disease, even among related …
Detection and interpretation of shared genetic influences on 42 human traits
We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …
Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
Large structural variations (SVs) within genomes are more challenging to identify than
smaller genetic variants but may substantially contribute to phenotypic diversity and …
smaller genetic variants but may substantially contribute to phenotypic diversity and …