Dendritic structural plasticity and neuropsychiatric disease

MP Forrest, E Parnell, P Penzes - Nature Reviews Neuroscience, 2018 - nature.com
The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …

Neurexins: molecular codes for sha** neuronal synapses

AM Gomez, L Traunmüller, P Scheiffele - Nature Reviews …, 2021 - nature.com
The function of neuronal circuits relies on the properties of individual neuronal cells and
their synapses. We propose that a substantial degree of synapse formation and function is …

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

HY Zoghbi, MF Bear - Cold Spring Harbor perspectives …, 2012 - cshperspectives.cshlp.org
The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual
disabilities has greatly informed our understanding of the molecular pathways critical for …

A developmental and genetic classification for malformations of cortical development: update 2012

AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

The genetic landscapes of autism spectrum disorders

G Huguet, E Ey, T Bourgeron - Annual review of genomics and …, 2013 - annualreviews.org
The autism spectrum disorders (ASD) are characterized by impairments in social interaction
and stereotyped behaviors. For the majority of individuals with ASD, the causes of the …

Transcription Factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content

F Papes, AP Camargo, JS de Souza… - Nature …, 2022 - nature.com
Abstract Transcription Factor 4 (TCF4) has been associated with autism, schizophrenia, and
other neuropsychiatric disorders. However, how pathological TCF4 mutations affect the …

Lessons learned from additional research analyses of unsolved clinical exome cases

MK Eldomery, Z Coban-Akdemir, T Harel… - Genome medicine, 2017 - Springer
Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …

Autism genetics

AM Persico, V Napolioni - Behavioural brain research, 2013 - Elsevier
Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

BA Fernandez, SW Scherer - Dialogues in clinical neuroscience, 2017 - Taylor & Francis
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions
diagnosed solely on the basis of behavioral assessments that reveal social deficits …