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 …

[PDF][PDF] 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 …

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 …

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 …

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 …

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 …

[PDF][PDF] 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 …

Most genetic risk for autism resides with common variation

T Gaugler, L Klei, SJ Sanders, CA Bodea… - Nature …, 2014 - nature.com
A key component of genetic architecture is the allelic spectrum influencing trait variability.
For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is …

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

G Genovese, M Fromer, EA Stahl, DM Ruderfer… - Nature …, 2016 - nature.com
By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …

Dissecting the genetics of complex traits using summary association statistics

B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …