Results 71 to 80 of about 62,777 (346)

Individual differences in autistic traits predict the perception of direct gaze for males, but not for females [PDF]

open access: yes, 2014
Despite the emphasis of autism spectrum disorders as a continuum of atypical social behaviors and the sexual heterogeneity of phenotypic manifestations, whether gaze processing constitutes an autistic endophenotype in both sexes remains unclear.
Daisuke Matsuyoshi   +5 more
core   +1 more source

Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes

open access: yesAdvanced Science, EarlyView.
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang   +51 more
wiley   +1 more source

Are autistic traits associated with suicidality?:A test of the interpersonal-psychological theory of suicide in a non-clinical young adults sample? [PDF]

open access: yes, 2017
Autism spectrum conditions (ASC) have been associated with increased risk of suicidality. However, no studies have explored how autistic traits may interact with current models of suicidal behaviour in a non-clinical population.
Andersen   +89 more
core   +1 more source

CLinNET: An Interpretable and Uncertainty‐Aware Deep Learning Framework for Multi‐Modal Clinical Genomics

open access: yesAdvanced Science, EarlyView.
Identifying disease‐causing genes in neurocognitive disorders remains challenging due to variants of uncertain significance. CLinNET employs dual‐branch neural networks integrating Reactome pathways and Gene Ontology terms to provide pathway‐level interpretability of genomic alterations.
Ivan Bakhshayeshi   +5 more
wiley   +1 more source

Autistic traits are associated with lower perceived executive function but not poorer executive function task performance in the general population: complementary meta-analytic evidence

open access: yesMolecular Autism
Background Autistic individuals generally exhibit real-world executive function (EF) difficulties and perform poorly on EF tasks. However, while autistic traits are distributed continuously throughout the general population, the relationships between ...
Michael K. Yeung   +5 more
doaj   +1 more source

Auditory Processing Differences Correlate With Autistic Traits in Males

open access: yesFrontiers in Human Neuroscience, 2020
Autism spectrum disorder (ASD) has high prevalence among males compared to females but mechanisms underlying the differences between sexes are poorly investigated.
Simge Aykan   +4 more
doaj   +1 more source

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

open access: yesAdvanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren   +6 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

Heritability of Autistic Traits in the General Population [PDF]

open access: yesArchives of Pediatrics & Adolescent Medicine, 2007
To explore genetic and environmental influences on individual differences in autistic traits in early adulthood and to test if there is assortative mating (nonrandom partner choice) for autistic traits in the general population.Twin family study using structural equation modeling.Population-based twin family sample from the Netherlands.Twins aged 18 ...
Hoekstra, Rosa A.   +3 more
openaire   +4 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

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