Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.
paper
Cited
Public
Unavailable
- Authors
- Lionel, Anath C; Crosbie, Jennifer; Barbosa, Nicole; Goodale, Tara; Thiruvahindrapuram, Bhooma; Rickaby, Jessica; Gazzellone, Matthew; Carson, Andrew R; Howe, Jennifer L; Wang, Zhuozhi; Wei, John; Stewart, Alexandre F R; Roberts, Robert; McPherson, Ruth; Fiebig, Andreas; Franke, Andre; Schreiber, Stefan; Zwaigenbaum, Lonnie; Fernandez, Bridget A; Roberts, Wendy; Arnold, Paul D; Szatmari, Peter; Marshall, Christian R; Schachar, Russell; Scherer, Stephen W
- Year
- 2011
- Journal
- Science translational medicine
- PMID
- 21832240
- DOI
- 10.1126/scitranslmed.3002464
Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition characterized by developmentally atypical and impairing inattention, hyperactivity, and impulsiveness. We identified de novo and rare copy number variations (CNVs) in 248 unrelated ADHD patients using million-feature genotyping arrays. We found de novo CNVs in 3 of 173 (1.7%) ADHD patients for whom we had DNA from both parents. These CNVs affected brain-expressed genes: DCLK2, SORCS1, SORCS3, and MACROD2. We also detected rare inherited CNVs in 19 of 248 (7.7%) ADHD probands, which were absent in 2357 controls and which either overlapped previously implicated ADHD loci (for example, DRD5 and 15q13 microduplication) or identified new candidate susceptibility genes (ASTN2, CPLX2, ZBBX, and PTPRN2). Among these de novo and rare inherited CNVs, there were also examples of genes (ASTN2, GABRG1, and CNTN5) previously implicated by rare CNVs in other neurodevelopmental conditions including autism spectrum disorder (ASD). To further explore the overlap of risks in ADHD and ASD, we used the same microarrays to test for rare CNVs in an independent, newly collected cohort of 349 unrelated individuals with a primary diagnosis of ASD. Deletions of the neuronal ASTN2 and the ASTN2-intronic TRIM32 genes yielded the strongest association with ADHD and ASD, but numerous other shared candidate genes (such as CHCHD3, MACROD2, and the 16p11.2 region) were also revealed. Our results provide support for a role for rare CNVs in ADHD risk and reinforce evidence for the existence of common underlying susceptibility genes for ADHD, ASD, and other neuropsychiatric disorders.
No figures extracted from this document.
No chunks β full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders. | Levine JM et al. | β | 2026 | β |
| DNA methylation signatures of treatment response in medication-overuse headache. | Kwiatkowska KM et al. | β | 2026 | β |
| Mitochondrial dynamics in neurodevelopment and neurodevelopmental disorders. | Sirois CL et al. | β | 2026 | β |
| A triple serine motif in the intracellular domain of SorCS2 impacts its cellular signaling. | Dalby A et al. | β | 2025 | β |
| CHCHD4 Oxidoreductase Activity: A Comprehensive Analysis of the Molecular, Functional, and Structural Properties of Its Redox-Regulated Substrates. | Balasco N et al. | β | 2025 | β |
| Complexin 2 contributes to the protective effect of NAD<sup>+</sup> on neuronal survival following neonatal hypoxia-ischemia. | Xu XW et al. | β | 2025 | β |
| Copy Number Variant Architecture of Child Psychopathology and Cognitive Development in the ABCD Study. | Sha Z et al. | β | 2025 | β |
| Differences and similarities between the genetic architecture of lifetime substance use across different substances. | Bright U et al. | β | 2025 | β |
| Expression profile of the ADHD risk gene <i>ADGRL3</i> during human neurodevelopment and the effects of genetic variation. | McNeill RV et al. | β | 2025 | β |
| Proteomic Findings in ADHD: A Systematic Review. | Karabulut OB et al. | β | 2025 | β |
| The relationship of sensory processing with ADHD and its co-occurring behavioural symptoms based on both undirected and directed network analysis. | Li J et al. | β | 2025 | β |
| Ubiquitin ligase signalling networks shape presynaptic development, function and disease. | Borgen M et al. | β | 2025 | β |
| Unraveling genetic risk contributions to nonverbal status in autism spectrum disorder probands. | Liu H et al. | β | 2025 | β |
| Attention-deficit/hyperactivity disorder. | Faraone SV et al. | β | 2024 | β |
| Characterization of genomic regions escaping epigenetic reprogramming in sheep. | Braz CU et al. | β | 2024 | β |
| Contactin 5 and Apolipoproteins Interplay in Alzheimer's Disease. | Dauar MT et al. | β | 2024 | β |
| Hippocampal SorCS2 overexpression represses chronic stress-induced depressive-like behaviors by promoting the BDNF-TrkB system. | Chen WJ et al. | β | 2024 | β |
| Loss of primary cilia and dopaminergic neuroprotection in pathogenic LRRK2-driven and idiopathic Parkinson's disease. | Khan SS et al. | β | 2024 | β |
| Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. | Olfson E et al. | β | 2024 | β |
| Replication of previous autism-GWAS hits suggests the association between <i>NAA1, SORCS3,</i> and <i>GSDME</i> and autism in the Han Chinese population. | Lin F et al. | β | 2024 | β |
| Transdiagnostic Patterns of Sensory Processing in Autism and ADHD. | Scheerer NE et al. | β | 2024 | β |
| adgrl3.1-deficient zebrafish show noradrenaline-mediated externalizing behaviors, and altered expression of externalizing disorder-candidate genes, suggesting functional targets for treatment. | Fontana BD et al. | β | 2023 | β |
| Characterization of the contactin 5 protein and its risk-associated polymorphic variant throughout the Alzheimer's disease spectrum. | Dauar MT et al. | β | 2023 | β |
| Comparative genomics of widespread and narrow-range white-bellied rats in the <i>Niviventer niviventer</i> species complex sheds light on invasive rodent success. | Wu XL et al. | β | 2023 | β |
| Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders. | Akter H et al. | β | 2023 | β |
| Epigenome-Wide Associations of Placental DNA Methylation and Behavioral and Emotional Difficulties in Children at 3 Years of Age. | Nakamura A et al. | β | 2023 | β |
| Fifty years of executive control research in attention-deficit/hyperactivity disorder:What we have learned and still need to know. | Schachar RJ | β | 2023 | β |
| Gene copy number variation and pediatric mental health/neurodevelopment in a general population. | Zarrei M et al. | β | 2023 | β |
| Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG). | Carter MT et al. | β | 2023 | β |
| Genome-wide association study of population-standardised cognitive performance phenotypes in a rural South African community. | Soo CC et al. | β | 2023 | β |
| <i>adgrl3.1</i>-deficient zebrafish show noradrenaline-mediated externalizing behaviors, and altered expression of externalizing disorder-candidate genes, suggesting functional targets for treatment | Fontana BD et al. | β | 2023 | β |
| Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans. | Wu Y et al. | β | 2023 | β |
| Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach. | Goh CJ et al. | β | 2023 | β |
| Molecular Abnormalities in BTBR Mice and Their Relevance to Schizophrenia and Autism Spectrum Disorders: An Overview of Transcriptomic and Proteomic Studies. | Kisaretova P et al. | β | 2023 | β |
| Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate. | Szalai R et al. | β | 2023 | β |
| Rare copy number variants in males and females with childhood attention-deficit/hyperactivity disorder. | Jung B et al. | β | 2023 | β |
| Spatially and temporally distinct patterns of expression for VPS10P domain receptors in human cerebral organoids. | Febbraro F et al. | β | 2023 | β |
| Altered cortical activation associated with mirror overflow driven by non-dominant hand movement in attention-deficit/hyperactivity disorder. | Luo Y et al. | β | 2022 | β |
| Associations Among Daily Living Skills, Motor, and Sensory Difficulties in Autistic and Nonautistic Children. | Travers BG et al. | β | 2022 | β |
| Convergent selective signaling impairment exposes the pathogenicity of latrophilin-3 missense variants linked to inheritable ADHD susceptibility. | Moreno-Salinas AL et al. | β | 2022 | β |
| Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes. | Costa CIS et al. | β | 2022 | β |
| Cortico-amygdalar connectivity and externalizing/internalizing behavior in children with neurodevelopmental disorders. | Nakua H et al. | β | 2022 | β |
| Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty? | Hendriks WJAJ et al. | β | 2022 | β |
| Identification of potentially common loci between childhood obesity and coronary artery disease using pleiotropic approaches. | Wang L et al. | β | 2022 | β |
| Methyltransferase Setdb1 Promotes Osteoblast Proliferation by Epigenetically Silencing Macrod2 with the Assistance of Atf7ip. | Zhang L et al. | β | 2022 | β |
| Mutations in trpΞ³, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila. | Palacios-MuΓ±oz A et al. | β | 2022 | β |
| Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments. | Vainieri I et al. | β | 2022 | β |
| Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy. | Polani S et al. | β | 2022 | β |
| The E3 ligase Thin controls homeostatic plasticity through neurotransmitter release repression. | Baccino-Calace M et al. | β | 2022 | β |
| The Genetic and Molecular Basis of Developmental Language Disorder: A Review. | Mountford HS et al. | β | 2022 | β |
| TRIM32 Deficiency Impairs the Generation of Pyramidal Neurons in Developing Cerebral Cortex. | Sun YY et al. | β | 2022 | β |
| Whole-genome sequencing reveals the genetic mechanisms of domestication in classical inbred mice. | Liu M et al. | β | 2022 | β |
| Altered dopaminergic firing pattern and novelty response underlie ADHD-like behavior of SorCS2-deficient mice. | Olsen D et al. | β | 2021 | β |
| Behavioural Characterisation of <i>Macrod1</i> and <i>Macrod2</i> Knockout Mice. | Crawford K et al. | β | 2021 | β |
| Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia. | Chen CH et al. | β | 2021 | β |
| Deficiency of TRIM32 Impairs Motor Function and Purkinje Cells in Mid-Aged Mice. | Zhu JW et al. | β | 2021 | β |
| Detecting local genetic correlations with scan statistics. | Guo H et al. | β | 2021 | β |
| Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability. | OΔuz S et al. | β | 2021 | β |
| Genome-Wide Association Study of Motor Coordination. | Mountford HS et al. | β | 2021 | β |
| Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies. | Nakatochi M et al. | β | 2021 | β |
| Insights into attention-deficit/hyperactivity disorder from recent genetic studies. | Brikell I et al. | β | 2021 | β |
| Integration of brain and behavior measures for identification of data-driven groups cutting across children with ASD, ADHD, or OCD. | Jacobs GR et al. | β | 2021 | β |
| IQ and Sensory Symptom Severity Best Predict Motor Ability in Children With and Without Autism Spectrum Disorder. | Surgent OJ et al. | β | 2021 | β |
| Latent Structure of Combined Autistic and ADHD Symptoms in Clinical and General Population Samples: A Scoping Review. | Krakowski AD et al. | β | 2021 | β |
| Peripheral Expression of <i>MACROD2</i> Gene Is Reduced Among a Sample of Turkish Children with Autism Spectrum Disorder. | Alnak A et al. | β | 2021 | β |
| Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature. | Bosfield K et al. | β | 2021 | β |
| SorCS2 is required for social memory and trafficking of the NMDA receptor. | Yang J et al. | β | 2021 | β |
| The Polygenic Nature and Complex Genetic Architecture of Specific Learning Disorder. | Georgitsi M et al. | β | 2021 | β |
| A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. | Martin J et al. | β | 2020 | β |
| Appropriateness of array-CGH in the ADHD clinics: A comparative study. | Baccarin M et al. | β | 2020 | β |
| Brain Network Connectivity and Association with Catechol-O-Methyltransferase Gene Polymorphism in Korean Attention-Deficit Hyperactivity Disorder Children. | Park JH et al. | β | 2020 | β |
| Circulating Cell-Free Nucleic Acids as Epigenetic Biomarkers in Precision Medicine. | Rahat B et al. | β | 2020 | β |
| Disruption of <i>CTNND2</i>, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia. | Adegbola A et al. | β | 2020 | β |
| Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain. | Linthorst J et al. | β | 2020 | β |
| Genetics of ADHD: What Should the Clinician Know? | Grimm O et al. | β | 2020 | β |
| Is it possible to recognize children diagnosed with ADHD from their facial anthropometric measures? A case-control study. | Aktas H et al. | β | 2020 | β |
| Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk. | Nudel R et al. | β | 2020 | β |
| Mammalian phospholipase D: Function, and therapeutics. | McDermott MI et al. | β | 2020 | β |
| Mapping associations between polygenic risks for childhood neuropsychiatric disorders, symptoms of attention deficit hyperactivity disorder, cognition, and the brain. | Sudre G et al. | β | 2020 | β |
| Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans. | Chang X et al. | β | 2020 | β |
| Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia. | Moreau CA et al. | β | 2020 | β |
| TRIM32 Deficiency Impairs Synaptic Plasticity by Excitatory-Inhibitory Imbalance via Notch Pathway. | Ntim M et al. | β | 2020 | β |
| Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications. | Myers L et al. | β | 2020 | β |
| Zebrafish as a tool to study schizophrenia-associated copy number variants. | Campbell PD et al. | β | 2020 | β |
| A large data resource of genomic copy number variation across neurodevelopmental disorders. | Zarrei M et al. | β | 2019 | β |
| Artificial intelligence for precision medicine in neurodevelopmental disorders. | Uddin M et al. | β | 2019 | β |
| Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. | Gudmundsson OO et al. | β | 2019 | β |
| Cross-species models of attention-deficit/hyperactivity disorder and autism spectrum disorder: lessons from CNTNAP2, ADGRL3, and PARK2. | Dalla Vecchia E et al. | β | 2019 | β |
| Epigenome-wide Analysis Identifies Genes and Pathways Linked to Neurobehavioral Variation in Preterm Infants. | Everson TM et al. | β | 2019 | β |
| Examining overlap and homogeneity in ASD, ADHD, and OCD: a data-driven, diagnosis-agnostic approach. | Kushki A et al. | β | 2019 | β |
| Exploring the genetics of trotting racing ability in horses using a unique Nordic horse model. | Velie BD et al. | β | 2019 | β |
| Genetics of attention deficit hyperactivity disorder. | Faraone SV et al. | β | 2019 | β |
| Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout. | Kawamura Y et al. | β | 2019 | β |
| <i>CNTN5</i><sup>-</sup><i><sup>/+</sup></i>or <i>EHMT2</i><sup>-</sup><i><sup>/+</sup></i>human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks. | Deneault E et al. | β | 2019 | β |
| Identifying Genomic Variations in Monozygotic Twins Discordant for Autism Spectrum Disorder Using Whole-Genome Sequencing. | Huang Y et al. | β | 2019 | β |
| Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations. | Lombardo B et al. | β | 2019 | β |
| Magnetoencephalographic (MEG) brain activity during a mental flexibility task suggests some shared neurobiology in children with neurodevelopmental disorders. | Mogadam A et al. | β | 2019 | β |
| Neonatal amygdalae and hippocampi are influenced by genotype and prenatal environment, and reflected in the neonatal DNA methylome. | Ong ML et al. | β | 2019 | β |
| Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. | Costain G et al. | β | 2019 | β |
| SorCS1-mediated sorting in dendrites maintains neurexin axonal surface polarization required for synaptic function. | Ribeiro LF et al. | β | 2019 | β |
| SorCS2 Controls Functional Expression of Amino Acid Transporter EAAT3 and Protects Neurons from Oxidative Stress and Epilepsy-Induced Pathology. | Malik AR et al. | β | 2019 | β |
| Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network. | Baribeau DA et al. | β | 2019 | β |
| A Gut Feeling: A Hypothesis of the Role of the Microbiome in Attention-Deficit/Hyperactivity Disorders. | Ming X et al. | β | 2018 | β |
| Assessing the evidence for shared genetic risks across psychiatric disorders and traits. | Martin J et al. | β | 2018 | β |
| ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins. | Behesti H et al. | β | 2018 | β |
| Common and specific genes and peripheral biomarkers in children and adults with attention-deficit/hyperactivity disorder. | Bonvicini C et al. | β | 2018 | β |
| Copy number variation in fetal alcohol spectrum disorder. | Zarrei M et al. | β | 2018 | β |
| Discoveries on the Genetics of ADHD in the 21st Century: New Findings and Their Implications. | Thapar A | β | 2018 | β |
| Emerging role of miRNA in attention deficit hyperactivity disorder: a systematic review. | Srivastav S et al. | β | 2018 | β |
| Epigenetic variability in conversion to psychosis: novel findings from an innovative longitudinal methylomic analysis. | Kebir O et al. | β | 2018 | β |
| [Genetics and epigenetics of attention deficit hyperactivity disorder]. | Mustafin RN et al. | β | 2018 | β |
| Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity. | Selvanayagam T et al. | β | 2018 | β |
| Genome-wide scan for circulating vascular adhesion protein-1 levels: MACROD2 as a potential transcriptional regulator of adipogenesis. | Chang YC et al. | β | 2018 | β |
| Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults. | Lo Re O et al. | β | 2018 | β |
| Recent developments in the genetics of attention-deficit hyperactivity disorder. | Grimm O et al. | β | 2018 | β |
| Structural abnormalities in the primary somatosensory cortex and a normal behavioral profile in Contactin-5 deficient mice. | Kleijer KTE et al. | β | 2018 | β |
| The role of ADHD associated genes in neurodevelopment. | Dark C et al. | β | 2018 | β |
| A current view on contactin-4, -5, and -6: Implications in neurodevelopmental disorders. | Oguro-Ando A et al. | β | 2017 | β |
| An endophenotype approach to the genetics of alcohol dependence: a genome wide association study of fast beta EEG in families of African ancestry. | Meyers JL et al. | β | 2017 | β |
| A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. | Gur RE et al. | β | 2017 | β |
| Brain imaging genetics in ADHD and beyond - Mapping pathways from gene to disorder at different levels of complexity. | Klein M et al. | β | 2017 | β |
| Cadherin-13 Deficiency Increases Dorsal Raphe 5-HT Neuron Density and Prefrontal Cortex Innervation in the Mouse Brain. | Forero A et al. | β | 2017 | β |
| Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies. | Rosenfeld JA et al. | β | 2017 | β |
| Commentary. | Kuppili PP | β | 2017 | β |
| Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. | Dworschak GC et al. | β | 2017 | β |
| Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid humanΒ genome. | Collins RL et al. | β | 2017 | β |
| Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity. | Gilbert J et al. | β | 2017 | β |
| Genetic Approaches to Understanding Psychiatric Disease. | Michaelson JJ | β | 2017 | β |
| Genomic Disorders in Psychiatry-What Does the Clinician Need to Know? | Lowther C et al. | β | 2017 | β |
| Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia. | Lowther C et al. | β | 2017 | β |
| Lack of replication of previous autism spectrum disorder GWAS hits in European populations. | Torrico B et al. | β | 2017 | β |
| Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. | Lowther C et al. | β | 2017 | β |
| Neurodevelopmental MACPFs: The vertebrate astrotactins and BRINPs. | Berkowicz SR et al. | β | 2017 | β |
| The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes. | McCammon JM et al. | β | 2017 | β |
| Trim32 Deficiency Enhances Th2 Immunity and Predisposes to Features of Atopic Dermatitis. | Liu Y et al. | β | 2017 | β |
| TRIM proteins and diseases. | Watanabe M et al. | β | 2017 | β |
| A Diffusion Tensor Imaging Study in Children With ADHD, Autism Spectrum Disorder, OCD, and Matched Controls: Distinct and Non-Distinct White Matter Disruption and Dimensional Brain-Behavior Relationships. | Ameis SH et al. | β | 2016 | β |
| A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs. | Wakil SM et al. | β | 2016 | β |
| An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. | Lima Lde A et al. | β | 2016 | β |
| Annual Research Review: Discovery science strategies in studies of the pathophysiology of child and adolescent psychiatric disorders--promises and limitations. | Zhao Y et al. | β | 2016 | β |
| Association of Autism Spectrum Disorder with Obsessive-Compulsive and Attention-Deficit/Hyperactivity Traits and Response Inhibition in a Community Sample. | van der Plas E et al. | β | 2016 | β |
| Attention deficit hyperactivity disorder. | Thapar A et al. | β | 2016 | β |
| Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children. | Gomez-Sanchez CI et al. | β | 2016 | β |
| Brinp1(-/-) mice exhibit autism-like behaviour, altered memory, hyperactivity and increased parvalbumin-positive cortical interneuron density. | Berkowicz SR et al. | β | 2016 | β |
| Comprehensive molecular testing in patients with high functioning autism spectrum disorder. | Alvarez-Mora MI et al. | β | 2016 | β |
| Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. | Mosca SJ et al. | β | 2016 | β |
| Cross-Disorder Psychiatric Genomics. | Docherty AR et al. | β | 2016 | β |
| Effects associated with on- and off-label stimulant treatment of core autism and ADHD symptoms exhibited by children with autism spectrum disorder. | Barnard-Brak L et al. | β | 2016 | β |
| Excitatory and Inhibitory Neurons in the Hippocampus Exhibit Molecularly Distinct Large Dense Core Vesicles. | RamΓrez-Franco JJ et al. | β | 2016 | β |
| Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis. | Guan J et al. | β | 2016 | β |
| Genetics of attention-deficit/hyperactivity disorder: an update. | Akutagava-Martins GC et al. | β | 2016 | β |
| Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. | Turner TN et al. | β | 2016 | β |
| Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. | Costain G et al. | β | 2016 | β |
| <i>De novo</i> large rare copy-number variations contribute to conotruncal heart disease in Chinese patients. | Mak CCY et al. | β | 2016 | β |
| Improving treatment of neurodevelopmental disorders: recommendations based on preclinical studies. | Homberg JR et al. | β | 2016 | β |
| Inter-tissue coexpression network analysis reveals DPP4 as an important gene in heart to blood communication. | Long Q et al. | β | 2016 | β |
| Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease. | Modjtahedi N et al. | β | 2016 | β |
| Moving towards causality in attention-deficit hyperactivity disorder: overview of neural and genetic mechanisms. | Gallo EF et al. | β | 2016 | β |
| Psychiatric gene discoveries shape evidence on ADHD's biology. | Thapar A et al. | β | 2016 | β |
| Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy. | Boon-Peng H et al. | β | 2016 | β |
| The Association Between ADHD and Antisocial Personality Disorder (ASPD): A Review. | StorebΓΈ OJ et al. | β | 2016 | β |
| The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children. | D'Arrigo S et al. | β | 2016 | β |
| The role of protein intrinsic disorder in major psychiatric disorders. | Tovo-Rodrigues L et al. | β | 2016 | β |
| Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. | Gazzellone MJ et al. | β | 2016 | β |
| A population study of binocular function. | Bosten JM et al. | β | 2015 | β |
| Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. | Lal D et al. | β | 2015 | β |
| Cadherin-13, a risk gene for ADHD and comorbid disorders, impacts GABAergic function in hippocampus and cognition. | Rivero O et al. | β | 2015 | β |
| Clinically relevant copy number variations detected in cerebral palsy. | Oskoui M et al. | β | 2015 | β |
| Contactin-5 expression during development and wiring of the thalamocortical system. | Kleijer KT et al. | β | 2015 | β |
| Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. | Warnica W et al. | β | 2015 | β |
| Duplications in ADHD patients harbour neurobehavioural genes that are co-expressed with genes associated with hyperactivity in the mouse. | Taylor A et al. | β | 2015 | β |
| Integration of DNA sequence and DNA methylation changes in monozygotic twin pairs discordant for schizophrenia. | Castellani CA et al. | β | 2015 | β |
| Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. | Addis L et al. | β | 2015 | β |
| Neurocognitive abilities in the general population and composite genetic risk scores for attention-deficit hyperactivity disorder. | Martin J et al. | β | 2015 | β |
| Next Generation Sequencing and the Child and Youth Psychiatrist. | Schachar R et al. | β | 2015 | β |
| Polymorphisms within ASTN2 gene are associated with age at onset of Alzheimer's disease. | Wang KS et al. | β | 2015 | β |
| Simplex and multiplex stratification in ASD and ADHD families: a promising approach for identifying overlapping and unique underpinnings of ASD and ADHD? | Oerlemans AM et al. | β | 2015 | β |
| Social deficits in IRSp53 mutant mice improved by NMDAR and mGluR5 suppression. | Chung W et al. | β | 2015 | β |
| Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. | Lin GN et al. | β | 2015 | β |
| The clinical presentation of attention deficit-hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome. | Niarchou M et al. | β | 2015 | β |
| The human clinical phenotypes of altered CHRNA7 copy number. | Gillentine MA et al. | β | 2015 | β |
| The molecular genetic architecture of attention deficit hyperactivity disorder. | Hawi Z et al. | β | 2015 | β |
| The neural stem cell fate determinant TRIM32 regulates complex behavioral traits. | Hillje AL et al. | β | 2015 | β |
| The NeuroIMAGE study: a prospective phenotypic, cognitive, genetic and MRI study in children with attention-deficit/hyperactivity disorder. Design and descriptives. | von Rhein D et al. | β | 2015 | β |
| The role of the retromer complex in aging-related neurodegeneration: a molecular and genomic review. | Reitz C | β | 2015 | β |
| The Sorting Receptor SorCS1 Regulates Trafficking of Neurexin and AMPA Receptors. | Savas JN et al. | β | 2015 | β |
| Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. | Vaags AK et al. | β | 2014 | β |
| Adult expression of a 3q13.31 microdeletion. | Lowther C et al. | β | 2014 | β |
| Adult neuropsychiatric expression and familial segregation of 2q13 duplications. | Costain G et al. | β | 2014 | β |
| A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion. | RodrΓguez L et al. | β | 2014 | β |
| Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants. | Martin J et al. | β | 2014 | β |
| Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris. | Al-Maawali A et al. | β | 2014 | β |
| Comprehensive behavioral analysis of cluster of differentiation 47 knockout mice. | Koshimizu H et al. | β | 2014 | β |
| Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. | Noor A et al. | β | 2014 | β |
| Copy number variation and autism: new insights and clinical implications. | Chung BH et al. | β | 2014 | β |
| Deletion of TRIM32 protects mice from anxiety- and depression-like behaviors under mild stress. | Ruan CS et al. | β | 2014 | β |
| Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. | Lionel AC et al. | β | 2014 | β |
| DNA methylation changes in the postmortem dorsolateral prefrontal cortex of patients with schizophrenia. | Numata S et al. | β | 2014 | β |
| Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link? | Lo-Castro A et al. | β | 2014 | β |
| Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. | Cukier HN et al. | β | 2014 | β |
| Genetic, psychosocial, and demographic factors associated with social disinhibition in Mexican-origin youth. | Archer NP et al. | β | 2014 | β |
| Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver disease. | Zain SM et al. | β | 2014 | β |
| Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder. | Jarick I et al. | β | 2014 | β |
| Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder. | Ramos-Quiroga JA et al. | β | 2014 | β |
| Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. | Egger G et al. | β | 2014 | β |
| MACROD2 gene associated with autistic-like traits in a general population sample. | Jones RM et al. | β | 2014 | β |
| Methotrexate-induced neurotoxicity and leukoencephalopathy in childhood acute lymphoblastic leukemia. | Bhojwani D et al. | β | 2014 | β |
| Mind the gap: why many geneticists and psychological scientists have discrepant views about gene-environment interaction (GΓE) research. | Duncan LE et al. | β | 2014 | β |
| Molecular convergence of neurodevelopmental disorders. | Chen ES et al. | β | 2014 | β |
| Molecular genetic studies of ADHD and its candidate genes: a review. | Li Z et al. | β | 2014 | β |
| Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia. | Mokhtar SS et al. | β | 2014 | β |
| Spatiotemporal expression analysis of the growth factor receptor SorCS3. | Oetjen S et al. | β | 2014 | β |
| Synaptic proteins and receptors defects in autism spectrum disorders. | Chen J et al. | β | 2014 | β |
| 1q21.1 Microduplication expression in adults. | Dolcetti A et al. | β | 2013 | β |
| Acetylcholine-metabolizing butyrylcholinesterase (BCHE) copy number and single nucleotide polymorphisms and their role in attention-deficit/hyperactivity syndrome. | Jacob CP et al. | β | 2013 | β |
| Attention-deficit/hyperactivity disorder (ADHD). | Dalsgaard S | β | 2013 | β |
| Dances with black widow spiders: dysregulation of glutamate signalling enters centre stage in ADHD. | Lesch KP et al. | β | 2013 | β |
| Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. | Handrigan GR et al. | β | 2013 | β |
| Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36. | Field LL et al. | β | 2013 | β |
| Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. | Jiang YH et al. | β | 2013 | β |
| Disengagement of visual attention in infancy is associated with emerging autism in toddlerhood. | Elsabbagh M et al. | β | 2013 | β |
| Disorders and borders: psychiatric genetics and nosology. | Smoller JW | β | 2013 | β |
| Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. | Beunders G et al. | β | 2013 | β |
| Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. | Cross-Disorder Group of the Psychiatric Genomics Consortium et al. | β | 2013 | β |
| Genetics of attention-deficit/hyperactivity disorder: current findings and future directions. | Akutagava-Martins GC et al. | β | 2013 | β |
| Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. | Iqbal Z et al. | β | 2013 | β |
| How Prevalent Are Autistic Traits Among Children With Attention-Deficit/Hyperactivity Disorder? A Qualitative Review of the Literature. | Uchida M et al. | β | 2013 | β |
| Identification of candidate intergenic risk loci in autism spectrum disorder. | Walker S et al. | β | 2013 | β |
| Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. | Matsunami N et al. | β | 2013 | β |
| Influence of a latrophilin 3 (LPHN3) risk haplotype on event-related potential measures of cognitive response control in attention-deficit hyperactivity disorder (ADHD). | Fallgatter AJ et al. | β | 2013 | β |
| Nursing genomics: practice implications every nurse should know. | Umberger R et al. | β | 2013 | β |
| Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion. | Harbuz R et al. | β | 2013 | β |
| Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. | Costain G et al. | β | 2013 | β |
| Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities. | Hendriks WJ et al. | β | 2013 | β |
| Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC et al. | β | 2013 | β |
| Sortilin-related receptor SORCS3 is a postsynaptic modulator of synaptic depression and fear extinction. | Breiderhoff T et al. | β | 2013 | β |
| The BTBR mouse model of autism spectrum disorders has learning and attentional impairments and alterations in acetylcholine and kynurenic acid in prefrontal cortex. | McTighe SM et al. | β | 2013 | β |
| The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. | Beaudet AL | β | 2013 | β |
| Toward developmental models of psychiatric disorders in zebrafish. | Norton WH | β | 2013 | β |
| A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A et al. | β | 2012 | β |
| Attention-deficit/hyperactivity disorder genomics: update for clinicians. | Elia J et al. | β | 2012 | β |
| Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. | Costain G et al. | β | 2012 | β |
| FLRT proteins are endogenous latrophilin ligands and regulate excitatory synapse development. | O'Sullivan ML et al. | β | 2012 | β |
| Genetic architecture in autism spectrum disorder. | Devlin B et al. | β | 2012 | β |
| Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. | Williams NM et al. | β | 2012 | β |
| Genomics, intellectual disability, and autism. | Mefford HC et al. | β | 2012 | β |
| Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. | Ernst C et al. | β | 2012 | β |
| Human-specific histone methylation signatures at transcription start sites in prefrontal neurons. | Shulha HP et al. | β | 2012 | β |
| Molecular genetics research in ADHD: ethical considerations concerning patients' benefit and resource allocation. | Rothenberger LG | β | 2012 | β |
| Non-Mendelian etiologic factors in neuropsychiatric illness: pleiotropy, epigenetics, and convergence. | Deutsch CK et al. | β | 2012 | β |
| Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. | Silversides CK et al. | β | 2012 | β |
| Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK et al. | β | 2012 | β |
| Serotonin in the modulation of neural plasticity and networks: implications for neurodevelopmental disorders. | Lesch KP et al. | β | 2012 | β |
| SHANK1 Deletions in Males with Autism Spectrum Disorder. | Sato D et al. | β | 2012 | β |
| Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. | Dharmadhikari AV et al. | β | 2012 | β |
| Social-skills and parental training plus standard treatment versus standard treatment for children with ADHD--the randomised SOSTRA trial. | StorebΓΈ OJ et al. | β | 2012 | β |
| Traits of ADHD and autism in girls with a twin brother: a Mendelian randomization study. | Attermann J et al. | β | 2012 | β |
| Use of RNA interference by in utero electroporation to study cortical development: the example of the doublecortin superfamily. | Reiner O et al. | β | 2012 | β |
| What is complex about complex disorders? | Mitchell KJ | β | 2012 | β |
| Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. | Blaker-Lee A et al. | β | 2012 | β |
| Following the genes: a framework for animal modeling of psychiatric disorders. | Mitchell KJ et al. | β | 2011 | β |
| Losing balance: Hardy-Weinberg disequilibrium as a marker for recurrent loss-of-heterozygosity in cancer. | Wilkins K et al. | β | 2011 | β |