[HTML][HTML] 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 …

[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 …

[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome

RL Collins, JT Glessner, E Porcu, M Lepamets… - Cell, 2022 - cell.com
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 …

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei… - World …, 2023 - Wiley Online Library
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 …

[HTML][HTML] ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries

PM Thompson, N Jahanshad, CRK Ching… - Translational …, 2020 - nature.com
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 …

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 …

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 …

[HTML][HTML] 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 …

Detection and interpretation of shared genetic influences on 42 human traits

JK Pickrell, T Berisa, JZ Liu, L Ségurel, JY Tung… - Nature …, 2016 - nature.com
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 …

[HTML][HTML] Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast

DC Jeffares, C Jolly, M Hoti, D Speed, L Shaw… - Nature …, 2017 - nature.com
Large structural variations (SVs) within genomes are more challenging to identify than
smaller genetic variants but may substantially contribute to phenotypic diversity and …