Genetic causes of developmental disorders

JAS Vorstman, RA Ophoff - Current opinion in neurology, 2013 - journals.lww.com
Similar to what is the case for intellectual disability, recent genetic studies indicate a large
degree of genetic heterogeneity for autism and ADHD. Many of the disease risk variants …

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

AK Srivastava, CE Schwartz - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
developmental disorders present in humans. Combined, they affect between 3 and 5% of …

Etiological heterogeneity in autism spectrum disorders: role of rare variants

C Betancur, M Coleman - The neuroscience of autism spectrum …, 2013 - inserm.hal.science
Autism spectrum disorders (ASD) encompass a group of behaviorally defined
developmental disabilities characterized by marked clinical and etiological heterogeneity …

Genetic basis of autism: is there a way forward?

V Eapen - Current opinion in psychiatry, 2011 - journals.lww.com
Understanding the neurobiological processes by which genotypes become phenotypes,
along with the advances in developmental neuroscience and neuronal networks at the …

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 …

Genetic research in autism spectrum disorders

EB Robinson, BM Neale, SE Hyman - Current opinion in pediatrics, 2015 - journals.lww.com
Genetic studies have the potential to identify the biological underpinnings of ASDs and other
neuropsychiatric disorders. The data they generate are already being used to examine …

Genetic contributions to autism spectrum disorder

A Havdahl, M Niarchou, A Starnawska… - Psychological …, 2021 - cambridge.org
Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental
conditions characterized by early childhood-onset impairments in communication and social …

Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

The conundrums of understanding genetic risks for autism spectrum disorders

MW State, P Levitt - Nature neuroscience, 2011 - nature.com
Recent advances in the genetics of autism spectrum disorders (ASDs) are offering new
valuable insights into molecular and cellular mechanisms of pathology. At the same time, the …

Genetics of autism: overview and new directions

P Szatmari, MB Jones, L Zwaigenbaum… - Journal of autism and …, 1998 - Springer
Genetic epidemiology is the study of inherited factors involved in the etiology of a disease or
disorder and uses the methods of both medical genetics and clinical epidemiology. In …