ArticleEuropean journal of human genetics : EJHG2020
Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Article
- Distinct neuroimaging subtypes of ADHD among adolescents based on semi-supervised learning.Translational psychiatry · 2025Article
- Integrative genetic analysis: cornerstone of precision psychiatry.Molecular psychiatry · 2025Review
- Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study.Nature genetics · 2024Article
- Bioinformatic Evaluation ofGenes · 2024Article
- Gene-gene and gene-environmental interaction of dopaminergic system genes in Pakistani children with attention deficit hyperactivity disorder.Saudi journal of biological sciences · 2024Article
- Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes.Nature communications · 2024Article
- Resting-State Functional MRI and PET Imaging as Noninvasive Tools to Study (Ab)Normal Neurodevelopment in Humans and Rodents.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Review
- Genetic architecture of ADHD and overlap with other psychiatric disorders and cognition-related phenotypes.Neuroscience and biobehavioral reviews · 2023Review
- Molecular Mechanisms Underlying NMDARs Dysfunction and Their Role in ADHD Pathogenesis.International journal of molecular sciences · 2023Review
- NEK Family Review and Correlations with Patient Survival Outcomes in Various Cancer Types.Cancers · 2023Review
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Genome Guided Personalized Drug Therapy in Attention Deficit Hyperactivity Disorder.Frontiers in psychiatry · 2022Article
- Genetics in the ADHD Clinic: How Can Genetic Testing Support the Current Clinical Practice?Frontiers in psychology · 2022Review
- Sex-stratified gene-by-environment genome-wide interaction study of trauma, posttraumatic-stress, and suicidality.Neurobiology of stress · 2021Article
- Involvement ofFrontiers in neurology · 2021Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 3 countries.
Funding
Abstract
Several types of genetic alterations occurring at numerous loci have been described in attention deficit hyperactivity disorder (ADHD). However, the role of rare single nucleotide variants (SNVs) remains under investigated. Here, we sought to identify rare SNVs with predicted deleterious effect that may contribute to ADHD risk. We chose to study ADHD families (including multi-incident) from a population with a high rate of consanguinity in which genetic risk factors tend to accumulate and therefore increasing the chance of detecting risk alleles. We employed whole exome sequencing (WES) to interrogate the entire coding region of 16 trios with ADHD. We also performed enrichment analysis on our final list of genes to identify the overrepresented biological processes. A total of 32 rare variants with predicted damaging effect were identified in 31 genes. At least two variants were detected per proband, most of which were not exclusive to the affected individuals. In addition, the majority of our candidate genes have not been previously described in ADHD including five genes (NEK4, NLE1, PSRC1, PTP4A3, and TMEM183A) that were not previously described in any human condition. Moreover, enrichment analysis highlighted brain-relevant biological themes such as "Glutamatergic synapse", "Cytoskeleton organization", and "Ca
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.