[HTML][HTML] Validation strategies for subtypes in psychiatry: A systematic review of research on autism spectrum disorder

JAA van Rentergem, MK Deserno, HM Geurts - Clinical Psychology …, 2021 - Elsevier
Heterogeneity within autism spectrum disorder (ASD) is recognized as a challenge to both
biological and psychological research, as well as clinical practice. To reduce unexplained …

Identification of three different phenotypes in anti–melanoma differentiation–associated gene 5 antibody–positive dermatomyositis patients: implications for prediction …

L Xu, H You, L Wang, C Lv, F Yuan, J Li… - Arthritis & …, 2023 - Wiley Online Library
Objective There is substantial heterogeneity among the phenotypes of patients with anti–
melanoma differentiation–associated gene 5 antibody–positive (anti‐MDA5+) …

Biomedical knowledge graph embeddings for personalized medicine: Predicting disease‐gene associations

J Vilela, M Asif, AR Marques, JX Santos… - Expert …, 2023 - Wiley Online Library
Personalized medicine is a concept that has been subject of increasing interest in medical
research and practice in the last few years. However, significant challenges stand in the way …

[HTML][HTML] The neurogenetics of functional connectivity alterations in autism: Insights from subtyping in 657 individuals

J Rasero, A Jimenez-Marin, I Diez, R Toro… - Biological …, 2023 - Elsevier
Background There is little consensus and controversial evidence on anatomical alterations
in the brains of people with autism spectrum disorder (ASD), due in part to the large …

Gene variants involved in nonsense-mediated mRNA decay suggest a role in autism spectrum disorder

AR Marques, JX Santos, H Martiniano, J Vilela… - Biomedicines, 2022 - mdpi.com
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with
unclear etiology. Many genes have been associated with ASD risk, but the underlying …

Identifying subgroups of patients with autism by gene expression profiles using machine learning algorithms

PI Lin, MA Moni, SSF Gau, V Eapen - Frontiers in psychiatry, 2021 - frontiersin.org
Objectives: The identification of subgroups of autism spectrum disorder (ASD) may partially
remedy the problems of clinical heterogeneity to facilitate the improvement of clinical …

Identification of amygdala-expressed genes associated with autism spectrum disorder

MJ Herrero, D Velmeshev, D Hernandez-Pineda… - Molecular autism, 2020 - Springer
Background Studies of individuals with autism spectrum disorder (ASD) have revealed a
strong multigenic basis with the identification of hundreds of ASD susceptibility genes. ASD …

Exposure to xenobiotics and gene-environment interactions in autism spectrum disorder: a systematic review

JX Santos, C Rasga, AM Vicente - Autism Spectrum Disorder …, 2021 - books.google.com
Heritability estimates indicate that genetic susceptibility does not fully explain Autism
Spectrum Disorder (ASD) risk variance, and that environmental factors may play a role in …

Rare variants in the outcome of social skills group training for autism

D Li, N Choque Olsson, M Becker, A Arora… - Autism …, 2022 - Wiley Online Library
Exome sequencing has been proposed as the first‐tier genetic testing in autism spectrum
disorder (ASD). Here, we performed exome sequencing in autistic individuals with average …

Clustering analysis supports the detection of biological processes related to autism spectrum disorder

L Emberti Gialloreti, R Enea, V Di Micco, D Di Giovanni… - Genes, 2020 - mdpi.com
Genome sequencing has identified a large number of putative autism spectrum disorder
(ASD) risk genes, revealing possible disrupted biological pathways; however, the genetic …