Gene hunting in autism spectrum disorder: on the path to precision medicine

DH Geschwind - The Lancet Neurology, 2015 - thelancet.com
Autism spectrum disorder is typical of the majority of neuropsychiatric syndromes in that it is
defined by signs and symptoms, rather than by aetiology. Not surprisingly, the causes of this …

Interneuron dysfunction in psychiatric disorders

O Marín - Nature Reviews Neuroscience, 2012 - nature.com
Schizophrenia, autism and intellectual disabilities are best understood as spectrums of
diseases that have broad sets of causes. However, it is becoming evident that these …

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

D Demontis, RK Walters, J Martin, M Mattheisen… - Nature …, 2019 - nature.com
Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral
disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute …

A high-coverage genome sequence from an archaic Denisovan individual

M Meyer, M Kircher, MT Gansauge, H Li, F Racimo… - Science, 2012 - science.org
We present a DNA library preparation method that has allowed us to reconstruct a high-
coverage (30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The …

[HTML][HTML] Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

O Peñagarikano, BS Abrahams, EI Herman… - Cell, 2011 - cell.com
Although many genes predisposing to autism spectrum disorders (ASD) have been
identified, the biological mechanism (s) remain unclear. Mouse models based on human …

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz… - Nature …, 2011 - nature.com
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a
strong genetic component complicated by substantial locus heterogeneity,. We sequenced …

Genetics of autism spectrum disorders

DH Geschwind - Trends in cognitive sciences, 2011 - cell.com
Characterized by a combination of abnormalities in language, social cognition and mental
flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly …

Evolution of the neocortex: a perspective from developmental biology

P Rakic - Nature Reviews Neuroscience, 2009 - nature.com
The enlargement and species-specific elaboration of the cerebral neocortex during
evolution holds the secret to the mental abilities of humans; however, the genetic origin and …

[图书][B] Children with specific language impairment

LB Leonard - 2017 - books.google.com
The landmark reference in the field, completely updated: a comprehensive treatment of a
disorder that is more prevalent than autism. Children with specific language impairment …

Cerebral asymmetry and language development: cause, correlate, or consequence?

DVM Bishop - Science, 2013 - science.org
Background Most children learn language effortlessly, but a minority struggle to master their
native tongue for no obvious reason. This is known as specific language impairment …