Distribution of disease-associated copy number variants across distinct disorders of cognitive development.

paper Cited Public

Authors: Pescosolido, Matthew F; Gamsiz, Ece D; Nagpal, Shailender; Morrow, Eric M
Year: 2013
Journal: Journal of the American Academy of Child and Adolescent Psychiatry
PMID: 23582872
DOI: 10.1016/j.jaac.2013.01.003
PMCID: PMC3774163

Figure 1

Distribution of copy number variants (CNVs) and genes for autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia, and epilepsy. Note: Figure 1A shows the distribution of genes contained within CNVs using strict criteria among all 4 disorders, as well as separates strict gene distribution by deletions (1B) and duplications (1C). Figure 1D shows the distribution of CNVs using strict criteria and is also separated into deletions (1E) and duplications (1F). Figure 1G shows the distribution of genes contained within CNVs for broad criteria, as well as deletions (1H) and duplications (1I). Broad CNV distribution is shown in Figure 1J and also categorized into deletions (1K) and duplications (1L). For Figure 1D, #1–8 represent strict CNV distributions that were analyzed in the pathway analysis (results in Table S4, available online), while in Figure 1J, #1–9 represent broad CNV distributions (results in Table S5, available online).

Figure 2

Figure 2A shows the number of genes per copy number variant (CNV) for all significant CNVs in autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SZ), and epilepsy (EP) and is separated into deletions (red) and duplications (blue). Note: The median number of genes per CNV is shown in the center of each box and the whiskers indicate the range. Figure 2B shows the number of CNV categories (e.g. A, B, and C) for all 4 disorders. ID had a greater number of category A CNVs in both ASD (p=.004) and epilepsy (p<.001). Also, ID had a significantly greater number of category C CNVs for ASD (p=.04) and epilepsy (p=.002).

Figure 3

Enriched gene networks of significant pathway analysis results for autism spectrum disorder (ASD) (3A), intellectual disability (ID) (3B), and schizophrenia (3C). Note: ASD processes shown include vesicle and synaptic processes. Synaptic, necrosis factor, and actin filament-based processes are enriched in ID. Significant schizophrenia networks consist of phospholipid, ubiquitin, and synaptic processes.

#	Section	Preview
0	METHOD — Identification of highly recurrent CNVs	A systematic review of CNVs was pursued based on the outline in Figure S1A, available online. CNVs…
1	METHOD — Classification of CNV to specific disorders and determination of CNV co-ordinates/genes	Highly recurrent CNVs were assigned to one or more disorder based on the following approach (Figure…
2	METHOD — Classification of CNV to specific disorders and determination of CNV co-ordinates/genes	Three CNV categories were defined: A, B, and C (Figure S2, available online). Category A consists of…
3	METHOD — Classification of CNV to specific disorders and determination of CNV co-ordinates/genes	We used a systematic approach to determine CNV intervals. For a given locus within a given disorder,…
4	METHOD — Classification of CNV to specific disorders and determination of CNV co-ordinates/genes	Mean CNV sizes for all disorders were compared with Wilcoxon rank test using STATA33 11.0.…
5	METHOD — Visualization of gene groupings by Venn diagrams	Gene groupings were visualized via VennMaster software.34 List of genes in all categories were…
6	METHOD — Gene pathway analysis and test subgroups	Gene groups were analyzed by hypergeometric statistical methods using the Database for Annotation,…
7	RESULTS — Distribution of CNVs Across Disorders	Based on Pubmed searches and review of references, a total of 820 unique articles were identified:…
8	RESULTS — Distribution of CNVs Across Disorders — Strict Criteria for CNV Assignment	The distribution of CNVs conferring susceptibility across the four disorders was characterized using…
9	RESULTS — Distribution of CNVs Across Disorders — Strict Criteria for CNV Assignment	strict criteria, ID was associated to an even greater degree with 96.8% (244 of 252) of genes in…
10	RESULTS — Distribution of CNVs Across Disorders — Strict Criteria for CNV Assignment	Visualization of the data with regard to the distribution of CNVs across disorders for strict…
11	RESULTS — Distribution of CNVs Across Disorders — Strict Criteria for CNV Assignment	average number of genes per CNV for each disorder was as follows: ID—49 genes; ASD—28 genes;…
12	RESULTS — Distribution of CNVs Across Disorders — Strict Criteria for CNV Assignment	Despite the high degree of overlap that was apparent, disorders showed distinct profiles of type of…
13	RESULTS — Distribution of CNVs Across Disorders — Disorder-specific CNVs and Broad Criteria for Assignment of Disorders	In addition to the high degree of sharing, each disorder (with the exception of epilepsy) has a set…
14	RESULTS — Distribution of CNVs Across Disorders — Disorder-specific CNVs and Broad Criteria for Assignment of Disorders	Schizophrenia was the disorder with the least amount of overlap with ID. Using strict criteria there…
15	RESULTS — Distribution of CNVs Across Disorders — Disorder-specific CNVs and Broad Criteria for Assignment of Disorders	Using the broad criteria, the extent of disorder-specific genes was substantially reduced. Using…
16	PATHWAY ANALYSIS	Our systematic groupings of CNVs provided opportunities to investigate gene pathways that may be…
17	PATHWAY ANALYSIS	Analysis of gene groupings based on DSM disorders also identified pathways that were specific to…
18	PATHWAY ANALYSIS	We then examined “co-morbid” groupings, for example, CNVs that are shared by two disorders such…
19	PATHWAY ANALYSIS	Finally, we conducted pathway analysis based on the category of the CNV (ie type A, B, or C). This…

Name	Type
15q13.3 local	variant
16p11.2 deletion	variant
16p11.2 duplication	variant
16p13.1 local	variant
1p36 deletion local	variant
1p36 duplication local	variant
7q11.2 deletion local	variant
actin cytoskeleton organization local	phenotype
actin filament-based process local	phenotype
ADHD	phenotype
ASD	phenotype
ASD CNVs local	variant
ASD genes local	gene
ASD study local	cohort
attentional problems local	phenotype
autism	phenotype
autism spectrum disorder	phenotype
bipolar disorder	phenotype
Category A local	cohort
Category A CNV local	variant
Category A CNVs local	variant
Category B local	cohort
Category B local	variant
Category B CNV local	variant
Category B CNVs local	variant
Category C local	cohort
Category C CNV local	variant
Category C CNVs local	variant
clinical referrals local	cohort
CNV	variant
CNV category A local	cohort
CNV category B local	cohort
CNV category C local	cohort
CNV type A local	variant
CNV type B local	variant
CNV type C local	variant
cognitive development disorder local	phenotype
Cognitive development disorders local	phenotype
copy number variant	variant
copy number variation	variant
deletion	variant
de novo SCN1A mutation local	variant
de novo variant	variant
developmental disorders	phenotype
disorder	phenotype
DSM disorders local	cohort
duplication	variant
epilepsy	phenotype
exocytosis	phenotype
full sample	cohort
Highly recurrent CNVs local	variant
ID	phenotype
ID CNVs local	variant
ID genes local	gene
intellectual disability	phenotype
large CNV	variant
large CNVs	variant
large disease cohort local	cohort
Large population samples local	cohort
large rare CNVs	variant
neurodevelopmental disorder	phenotype
neuropsychiatric disorders	phenotype
NRXN1	gene
NRXN1 deletion local	variant
NRXN1 duplication local	variant
postsynaptic membrane local	phenotype
protein ubiquitination local	phenotype
PTEN	gene
rare CNVs	variant
Ras protein signal transduction local	phenotype
regulation of acute inflammatory response local	phenotype
regulation of neurotransmitter levels local	phenotype
regulation of synaptic transmission local	phenotype
research setting local	cohort
schizophrenia	phenotype
Schizophrenia CNVs local	variant
Schizophrenia genes local	gene
Schizophrenia-specific CNV local	variant
Scn1a	gene
second large CNV local	variant
single large CNV local	variant
synaptic processes	phenotype
synaptic vesicle transport local	phenotype
TNF	gene
tuberous sclerosis	phenotype
tumor necrosis factor binding local	phenotype
twins cohort with attentional problems local	cohort
ubiquitin-protein ligase activity local	phenotype
vesicle local	phenotype
Williams syndrome local	phenotype

Citation	PMID	DOI	Status
Bachmann-Gagescu, R et al., Genetics in medicine: official journal of the American College of Medical Genetics, 2010, Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity	20808231	10.1097/GIM.0b013e3181ef4286	Cited
Catarino, CB et al., Brain, 2011, Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology	21719429	10.1093/brain/awr129	Cited
Chen, CP et al., European Journal of Medical Genetics, 2010, A de novo 7.9 Mb deletion in 22q13. 23 qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings	20541044	10.1016/j.ejmg.2010.06.004	Cited
Cook, EH et al., Nature, 2008, Copy-number variations associated with neuropsychiatric conditions	18923514	10.1038/nature07458	Cited
Cooper, GM et al., Nature genetics Sep, 2011, A copy number variation morbidity map of developmental delay	21841781	10.1038/ng.909	Cited
Crespi, B et al., Proceedings of the National Academy of Sciences, 2010, Comparative genomics of autism and schizophrenia	19955444	10.1073/pnas.0906080106	Cited
de Kovel, CGF et al., Brain, 2010, Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies	19843651	10.1093/brain/awp262	Cited
Dibbens, LM et al., Human Molecular Genetics, 2009, Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance	19592580	10.1093/hmg/ddp311	Cited
Dravet, C, Epilepsia, 2011, The core Dravet syndrome phenotype	21463272	10.1111/j.1528-1167.2011.02994.x	Cited
Durand, CM et al., Nature Genetics Jan, 2007, Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders	17173049	10.1038/ng1933	Cited
Ehli, EA et al., European journal of human genetics: EJHG Oct, 2012, De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems	22490988	10.1038/ejhg.2012.49	Cited
Elia, J et al., Molecular Psychiatry, 2009, Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes	19546859	10.1038/mp.2009.57	Cited
Gauthier, J et al., Proceedings of the National Academy of Sciences, 2010, De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia	20385823	10.1073/pnas.0906232107	Cited
Gilman, SR et al., Neuron, 2011, Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses	21658583	10.1016/j.neuron.2011.05.021	Cited
Girirajan, S et al., Nature genetics Mar, 2010, A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay	20154674	10.1038/ng.534	Cited
Girirajan, S et al., The New England journal of medicine, 2012, Phenotypic heterogeneity of genomic disorders and rare copy-number variants	22970919	10.1056/NEJMoa1200395	Cited
Glessner, JT et al., Nature, 2009, Autism genome-wide copy number variation reveals ubiquitin and neuronal genes	19404257	10.1038/nature07953	Cited
Glessner, JT et al., Proceedings of the National Academy of Sciences, 2010, Strong synaptic transmission impact by copy number variations in schizophrenia	20489179	10.1073/pnas.1000274107	Cited
Grozeva, D et al., Archives of General Psychiatry, 2010, Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia	20368508	10.1001/archgenpsychiatry.2010.25	Cited
Grozeva, D et al., Schizophrenia research Mar, 2012, Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia	22130109	10.1016/j.schres.2011.11.004	Cited
Guilmatre, A et al., Archives of General Psychiatry Sep, 2009, Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation	19736351	10.1001/archgenpsychiatry.2009.80	Cited
Gupta, AR et al., Biological Psychiatry, 2007, Recent advances in the genetics of autism	16996486	10.1016/j.biopsych.2006.06.020	Cited
Hannes, FD et al., Journal of medical genetics Apr, 2009, Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant	18550696	10.1136/jmg.2007.055202	Cited
Heinzen, EL et al., American Journal of Human Genetics, 2010, Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes	20398883	10.1016/j.ajhg.2010.03.018	Cited
Helbig, I et al., Nature genetics Feb, 2009, 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy	19136953	10.1038/ng.292	Cited
Huang, DW et al., Nature Protocols, 2008, Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources	19131956	10.1038/nprot.2008.211	Cited
Ingason, A et al., American Journal of Psychiatry, 2011, Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness	21324950	10.1176/appi.ajp.2010.09111660	Cited
Ingason, A et al., Mol Psychiatry, 2011, Copy number variations of chromosome 16p13.1 region associated with schizophrenia	19786961	10.1038/mp.2009.101	Cited
Jamain, S et al., Nature Genetics, 2003, Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism	12669065	10.1038/ng1136	Cited
Kaminsky, EB et al., Genetics in medicine: official journal of the American College of Medical Genetics Sep, 2011, An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities	21844811	10.1097/GIM.0b013e31822c79f9	Cited
Karayiorgou, M et al., Proceedings of the National Academy of Sciences, 1995, Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11	7644464	10.1073/pnas.92.17.7612	Cited
Kelleher, RJ et al., Cell, 2008, The autistic neuron: troubled translation?	18984149	10.1016/j.cell.2008.10.017	Cited
Kestler, HA et al., Bioinformatics, 2005, Generalized Venn diagrams: a new method of visualizing complex genetic set relations	15572472	10.1093/bioinformatics/bti169	Cited
Kirov, G et al., Hum Mol Genet, 2009, Support for the involvement of large copy number variants in the pathogenesis of schizophrenia	19181681	10.1093/hmg/ddp043	Cited
Kirov, G et al., Molecular Psychiatry, 2011, De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia	22083728	10.1038/mp.2011.154	Cited
Kooy, RF, F1000 biology reports, 2010, Distinct disorders affecting the brain share common genetic origins	20948821	10.3410/B2-11	Cited
Kumar, RA et al., Hum Mol Genet, 2008, Recurrent 16p11.2 microdeletions in autism	18156158	10.1093/hmg/ddm376	Cited
Ledbetter, DH et al., New England Journal of Medicine, 1981, Deletions of chromosome 15 as a cause of the Prader–Willi syndrome	7442771	10.1056/NEJM198102053040604	Cited
Lee, Y et al., Psychiatric genetics Aug, 2012, Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia	22547139	10.1097/YPG.0b013e328353ae3d	Cited
Levinson, DF et al., American Journal of Psychiatry, 2011, Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications	21285140	10.1176/appi.ajp.2010.10060876	Cited
Malhotra, D et al., Neuron, 2011, High frequencies of de novo CNVs in bipolar disorder and schizophrenia	22196331	10.1016/j.neuron.2011.11.007	Cited
Marini, C et al., Epilepsia, 2011, The genetics of Dravet syndrome	21463275	10.1111/j.1528-1167.2011.02997.x	Cited
Marshall, CR et al., Am J Hum Genet Feb, 2008, Structural variation of chromosomes in autism spectrum disorder	18252227	10.1016/j.ajhg.2007.12.009	Cited
McCarthy, SE et al., Nature genetics, 2009, Microduplications of 16p11. 2 are associated with schizophrenia	19855392	10.1038/ng.474	Cited
Mefford, HC et al., Genome Res Sep, 2009, A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease	19506092	10.1101/gr.094987.109	Cited
Mefford, HC et al., PLoS Genetics May, 2010, Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies	20502679	10.1371/journal.pgen.1000962	Cited
Mefford, HC et al., The New England journal of medicine, 2008, Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes	18784092	10.1056/NEJMoa0805384	Cited
Moessner, R et al., American Journal of Human Genetics Dec, 2007, Contribution of SHANK3 mutations to autism spectrum disorder	17999366	10.1086/522590	Cited
Moreno-De-Luca, D et al., Am J Hum Genet, 2010, Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia	21055719	10.1016/j.ajhg.2010.10.004	Cited
Morrow, EM, J Am Acad Child Adolesc Psychiatry, 2010, Genomic copy number variation in disorders of cognitive development	20970697	10.1016/j.jaac.2010.08.009	Cited
Mulle, JG et al., Am J Hum Genet, 2010, Microdeletions of 3q29 confer high risk for schizophrenia	20691406	10.1016/j.ajhg.2010.07.013	Cited
Nature, 2008, Rare chromosomal deletions and duplications increase risk of schizophrenia	18668038	10.1038/nature07239	Cited
Neale, BM et al., Nature, 2012, Patterns and rates of exonic de novo mutations in autism spectrum disorders	22495311	10.1038/nature11011	Cited
O’Roak, BJ et al., Nature Genetics, 2011, Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations	21572417	10.1038/ng.835	Cited
O’Roak, BJ et al., Nature, 2012, Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations	22495309	10.1038/nature10989	Cited
Pinto, D et al., Nature, 2010, Functional impact of global rare copy number variation in autism spectrum disorders	20531469	10.1038/nature09146	Primary
Pober, BR, The New England journal of medicine, 2010, Williams-Beuren syndrome	20089974	10.1056/NEJMra0903074	Cited
Rosenfeld, JA et al., Genetics in Medicine, 2010, Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders	20808228	10.1097/GIM.0b013e3181f0c5f3	Cited
Rosenfeld, JA et al., J Neurodev Disord Mar, 2010, Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications	21731881	10.1007/s11689-009-9037-4	Cited
Rujescu, D et al., Hum Mol Genet, 2009, Disruption of the neurexin 1 gene is associated with schizophrenia	18945720	10.1093/hmg/ddn351	Cited
Sanders, SJ et al., Nature, 2012, De novo mutations revealed by whole-exome sequencing are strongly associated with autism	22495306	10.1038/nature10945	Cited
Sanders, SJ et al., Neuron, 2011, Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism	21658581	10.1016/j.neuron.2011.05.002	Cited
Sato, D et al., Am J Hum Genet, 2012, SHANK1 Deletions in Males with Autism Spectrum Disorder	22503632	10.1016/j.ajhg.2012.03.017	Cited
Sebat, J et al., Science, 2004, Large-scale copy number polymorphism in the human genome	15273396	10.1126/science.1098918	Cited
Sebat, J et al., Science, 2007, Strong association of de novo copy number mutations with autism	17363630	10.1126/science.1138659	Cited
Sebat, J et al., Trends in Genetics, 2009, Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders	19883952	10.1016/j.tig.2009.10.004	Cited
Sebat, J, Nature genetics, 2007, Major changes in our DNA lead to major changes in our thinking	17597778	10.1038/ng2095	Cited
Sharp, AJ et al., Nature genetics Mar, 2008, A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures	18278044	10.1038/ng.93	Cited
Sisodiya, SM et al., Current Opinion in Neurology, 2011, Genetic contribution to common epilepsies	21252662	10.1097/WCO.0b013e328344062f	Cited
Stata Statistical Software: Release 11, 2009	—	—	—
State, MW, Neuron, 2010, The genetics of child psychiatric disorders: focus on autism and Tourette syndrome	20955933	10.1016/j.neuron.2010.10.004	Cited
Stefansson, H et al., Nature, 2008, Large recurrent microdeletions associated with schizophrenia	18668039	10.1038/nature07229	Cited
Vacic, V et al., Nature, 2011, Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia	21346763	10.1038/nature09884	Cited
Weiss, LA et al., The New England journal of medicine, 2008, Association between microdeletion and microduplication at 16p11.2 and autism	18184952	10.1056/NEJMoa075974	Cited
Williams, NM et al., American Journal of Psychiatry, 2012, Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13. 3	22420048	10.1176/appi.ajp.2011.11060822	Cited
Williams, NM et al., Lancet, 2010, Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis	20888040	10.1016/S0140-6736(10)61109-9	Cited
Xu, B et al., Nature genetics, 2008, Strong association of de novo copy number mutations with sporadic schizophrenia	18511947	10.1038/ng.162	Cited
Yan, WL et al., American Journal of Medical Genetics, 1998, Chromosome 22q11. 2 interstitial deletions among childhood-onset schizophrenics and “multidimensionally impaired”	9514586	—	Cited
Zhang, D et al., Molecular Psychiatry, 2008, Singleton deletions throughout the genome increase risk of bipolar disorder	19114987	10.1038/mp.2008.144	Cited
Zhao, Q et al., Schizophrenia bulletin, 2012, Rare CNVs and Tag SNPs at 15q11.2 Are Associated With Schizophrenia in the Han Chinese Population [published online February 8, 2012]	22317777	10.1093/schbul/sbr197	Cited

In this knowledge base

Title	Year	PMID
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.	2018	29325848
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.	2014	25062598

External

Title	Authors	Journal	Year	Link
Impaired cognitive function and altered dendritic morphology of hippocampal neurons in a mouse model of fetal alcohol spectrum disorder.	Cai Y et al.	—	2025	→
Schizophrenia Biomarkers: Blood Transcriptome Suggests Two Molecular Subtypes.	Dor H et al.	—	2024	→
MED13L and its disease-associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain.	Hamada N et al.	—	2023	→
17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.	Warren EB et al.	—	2022	→
Patterns of Convergence and Divergence Between Bipolar Disorder Type I and Type II: Evidence From Integrative Genomic Analyses.	Huang Y et al.	—	2022	→
Comprehensive Gene Expression Analysis Detects Global Reduction of Proteasome Subunits in Schizophrenia.	Hertzberg L et al.	—	2021	→
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.	Verbitsky M et al.	—	2021	→
Patterns of convergence and divergence between bipolar disorder type I and type II: evidence from integrative genomic analyses	Huang Y et al.	—	2021	—
Identification, Evaluation, and Management of Children With Autism Spectrum Disorder.	Hyman SL et al.	—	2020	→
A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.	Pacault M et al.	—	2019	→
A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.	Martin J et al.	—	2018	→
Assessing the evidence for shared genetic risks across psychiatric disorders and traits.	Martin J et al.	—	2018	→
Rare gene deletions in genetic generalized and Rolandic epilepsies.	Jabbari K et al.	—	2018	→
The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.	Tebbenkamp ATN et al.	—	2018	→
Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.	Bouwkamp CG et al.	—	2017	→
Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia.	Witt SH et al.	—	2017	→
Pathway-wide association study identifies five shared pathways associated with schizophrenia in three ancestral distinct populations.	Liu C et al.	—	2017	→
Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.	Homs A et al.	—	2016	→
Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape.	Finucane B et al.	—	2016	→
Delivery of epilepsy care to adults with intellectual and developmental disabilities.	Devinsky O et al.	—	2015	→
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms.	Gamsiz ED et al.	—	2015	→
Genomic imbalances in pediatric patients with chronic kidney disease.	Verbitsky M et al.	—	2015	→
Parent-rated emotional-behavioral and executive functioning in childhood epilepsy.	Kavanaugh BC et al.	—	2015	→
Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.	McGrath LM et al.	—	2014	→
Familial risk of epilepsy: a population-based study.	Peljto AL et al.	—	2014	→