[HTML][HTML] Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
[PDF][PDF] SPARK: A US cohort of 50,000 families to accelerate autism research
P Feliciano, AM Daniels, LAG Snyder, A Beaumont… - Neuron, 2018 - cell.com
The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.
org, a dynamic platform that is engaging thousands of individuals with autism spectrum …
org, a dynamic platform that is engaging thousands of individuals with autism spectrum …
[HTML][HTML] Artificial intelligence for precision medicine in neurodevelopmental disorders
The ambition of precision medicine is to design and optimize the pathway for diagnosis,
therapeutic intervention, and prognosis by using large multidimensional biological datasets …
therapeutic intervention, and prognosis by using large multidimensional biological datasets …
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 …
flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly …
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 …
conditions characterized by early childhood-onset impairments in communication and social …
[HTML][HTML] The autism spectrum: behavioral, psychiatric and genetic associations
A Genovese, MG Butler - Genes, 2023 - mdpi.com
Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic
neurobehavioral disorders associated with developmental impairments in social …
neurobehavioral disorders associated with developmental impairments in social …
Genetics of autism spectrum disorder
G Ramaswami, DH Geschwind - Handbook of clinical neurology, 2018 - Elsevier
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized
by impaired social interaction and stereotyped behaviors. ASD has a strong and complex …
by impaired social interaction and stereotyped behaviors. ASD has a strong and complex …
[HTML][HTML] Mitochondrial dysfunction in autism spectrum disorder: unique abnormalities and targeted treatments
RE Frye - Seminars in pediatric neurology, 2020 - Elsevier
Several lines of evidence implicate mitochondria in the pathophysiology of autism spectrum
disorder (ASD). In this review, we outline some of the evidence supporting this notion, as …
disorder (ASD). In this review, we outline some of the evidence supporting this notion, as …
[HTML][HTML] Clinical and molecular characteristics of mitochondrial dysfunction in autism spectrum disorder
S Rose, DM Niyazov, DA Rossignol… - Molecular diagnosis & …, 2018 - Springer
Autism spectrum disorder (ASD) affects~ 2% of children in the United States. The etiology of
ASD likely involves environmental factors triggering physiological abnormalities in …
ASD likely involves environmental factors triggering physiological abnormalities in …
[HTML][HTML] Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a
combination of rare de novo and inherited variants as well as common variants in at least …
combination of rare de novo and inherited variants as well as common variants in at least …