1q42.2CNV Type: Deletion-Duplication
Largest CNV size: 2070000 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
DISC1 duplication in two brothers with autism and mild mental retardation.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
Unrelated Tourette syndrome (TS) patients recruited through the Herlev Tourette Clinic (Denmark)
188
Tourette syndrome (TS) with additional comorbidities, including ADHD, OCD, and ASD
N/A
81.91% Male
102000
0
1
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
8078
0
2
2
crepel_10_ASD_discovery_cases
Affected siblings of unrelated parents
2
Autism with mild mental retardation (MR)
Range, 5 yr 8 mo-7 yr 10 mo
100% Male
2070000
0
2
2
crepel_10_ASD_replication_cases
Belgian ASD patients
260
Non-syndromic autism, IQ between 57-116
2070000
0
0
0
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
103730
0
8
8
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
60649
2
0
2
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
101154
1
0
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
113000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
106745
2
0
2
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
101646
0
1
1
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
40270
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
134634
2
0
2
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
208702
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
102682
0
2
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
8781
1
1
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
79723
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
216012
4
3
7
wisniowiecka-kowalnik_12_ASD_discovery_cases
ASD patients from 132 simplex and 13 multiplex families of Polish descent
145
Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
Range, 3-26 yrs.
84.83% Male
750000
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
3239
1
0
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
25931
0
1
1
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
69000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
crepel_10_ASD_discovery_controls
Control cohort including patients with mental handicap, congenital malformations, and parents of patients (Belgium)
1577
Autism control cohort
2070000
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
105720
2
17
19
gai_11_ASD_discovery_controls
Samples recruited from visits conducted within CHOP healthcare network
1775
Controls: patients screened for having no chronic illness/health issues as well as autism
Range, 3-18 yrs.
N/A
2
gai_11_ASD_replication_controls
Healthy individuals comprising the CHOP CNV resource
2026
Controls
N/A
5
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
605081
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
85688
0
1
1
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
40270
0
10
10
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
162157
0
1
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
27138
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
32439
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
8781
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
88671
0
2
2
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
3239
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
Danish
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan HD
Affymetrix ChAS
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
crepel_10_ASD_discovery_cases
Belgian
aCGH
BACs aCGH
qBASE
qPCR
crepel_10_ASD_replication_cases
Belgian
qPCR
Roche LightCycler 480
qBASE
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wisniowiecka-kowalnik_12_ASD_discovery_cases
Polish
aCGH
OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
BCM web-based software, custom-designed IMiD-web2py software
FISH
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
crepel_10_ASD_discovery_controls
Belgian
aCGH
BACs aCGH
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_controls
1005 European descent, 723 African descent, 47 Asian descent
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_controls
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient3
N/A
M
Tourette syndrome, ADHD, and ASD
Symptoms: TS, ADHD, ASD (Asperger syndrome). Family history: both mother and father were unaffected.
N/A
231575658
231678608
102951
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11178
NA
M
ASD
NA
NA
231529203
231537281
8079
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11426
NA
M
ASD
NA
NA
231351233
231351354
122
GRCh38
Duplication
No
crepel_10_ASD_discovery_cases-patient1
7 yr 10 mo
M
Autism with mild MR
Psychomotor development delay and severe behavioral difficulties at 2. Diagnosed with autism with mild MR and ADHD at 5. Impaired social reciprocity. Impaired communicative skills. Anxiety. Perseverations. Obsession for turning objects. Sensory hypersensitivity. Hyperactive behavior. Attention deficits. Mild periventricular leucomalacia observed on MRI. Affected by d-TGA. Sibling of crepel_10_ASD_discovery_cases-patient2.
Full scale IQ 62 (by means of WISC-III)
231596540
233664719
2068180
GRCh38
Duplication
Yes
crepel_10_ASD_discovery_cases-patient2
5 yr 8 mo
M
Autism with mild MR
Referred to dept. of child psychiatry at age of 4.5 due to speech delay and behavioral difficulties. Marked impairment of social reciprocity (active-but-odd social behavior). Poor language pragmatics. Very poor non-verbal communication. Fascination with minor visual and auditive details. Often absorbed by own interests. Did not reach diagnosic criteria for ADHD. Sibling of crepel_10_ASD_discovery_cases-patient1.
Full scale IQ 62 (by means of WISC-III)
231596540
233664719
2068180
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case13133_1503
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
231775265
231813075
37811
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14380_4930
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
231573658
231677388
103731
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4143_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4239_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
231575743
231677388
101646
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4291_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5115_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6270_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
231574707
231672536
97830
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6310_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
231574707
231677388
102682
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU1102301
Autism
229966327
230026975
60649
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU1102303
Autism
229966327
230026975
60649
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-11712.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
231696275
231797429
101155
GRCh38
Deletion
Yes
hnoonual_17_ASD_discovery_cases-caseAR44-3
N/A
M
ASD
Macrocephaly
231627750
231741327
113578
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001611
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
230693760
230780212
86453
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003850
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
231950293
232057038
106746
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1869
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
231711489
231813134
101646
Unknown
Duplication
No
kousoulidou_13_ASD_discovery_cases-patient2
N/A
M
ASD
ASD. Speech impairment, communication difficulties, poor eye contact, behavioral problems, and hyperactivity. Family history: unremarkable.
231783130
231823408
40279
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11712.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
231693825
231795296
101472
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12960.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
232955556
233090190
134635
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0208
34 yrs.
M
ASD, ID
Behavioral/psychiatric evaluation: sensory hypersensitivity. Congenital and developmental phenotypes: low birth weight. Family history: negative.
Mild intellectual disability
231740970
231949671
208702
GRCh38
Deletion
N/A
pinto_10_ASD_discovery_cases-case13133_1503
NA
M
Autism
Nonverbal, normal physical exam, no epilepsy
Moderate/severe MR
231775265
231813075
37811
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5115_3
NA
M
ASD
NA
NA
231574707
231677388
102682
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case100678L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
229240104
229245106
5003
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case93914
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
231831259
231840039
8781
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: possible diagnosis. Seizures: N/A.
Developmental delay: yes. Intellectual disability: Possibly mild.
231589122
231668844
79723
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11144.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
232576138
232715670
139533
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11357.p1
9.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
231574707
231677388
102682
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11712.p1
5.5
M
ASD
NA
Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
231692626
231805091
112466
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12339.p1
15.5
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
231575743
231677388
101646
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
232709570
232722834
13265
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12690.p1
11.6
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
233552495
233565550
13056
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12960.p1
6.6
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
232884822
233100834
216013
GRCh38
Deletion
No
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient7
6
M
Autism
Autism
Intellectual disability (ID)
232464214
233217986
753773
GRCh38
Duplication
Yes
yin_16_ASD_discovery_cases-case49
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
231625148
231628386
3239
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0137-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
231780353
231806283
25931
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU021603
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
231749876
231819294
69419
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036015154_
N/A
N/A
Control
No previous psychiatric history
231584298
231677388
93091
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036020436_
N/A
N/A
Control
No previous psychiatric history
231575743
231677388
101646
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036020865_
N/A
N/A
Control
No previous psychiatric history
231575743
231677388
101646
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB277883_0067942601
N/A
N/A
Control
No previous psychiatric history
231571668
231677388
105721
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB412301_1007874436
N/A
N/A
Control
No previous psychiatric history
234356313
234390194
33882
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB534737_1007852659
N/A
N/A
Control
No previous psychiatric history
231573658
231677388
103731
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB553658_1007850198
N/A
N/A
Control
No previous psychiatric history
231573658
231677388
103731
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB566863_1007875835
N/A
N/A
Control
No previous psychiatric history
233372818
233419107
46290
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB719092_1007853947
N/A
N/A
Control
No previous psychiatric history
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB719140_1007853740
N/A
N/A
Control
No previous psychiatric history
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB903773_0067949271
N/A
N/A
Control
No previous psychiatric history
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB948702_1007854260
N/A
N/A
Control
No previous psychiatric history
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB962764_1007843925
N/A
N/A
Control
No previous psychiatric history
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB981601_1007842471
N/A
N/A
Control
No previous psychiatric history
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900292_900292
N/A
N/A
Control
No previous psychiatric history
231573658
231677388
103731
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900514_900514
N/A
N/A
Control
No previous psychiatric history
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900883_900883
N/A
N/A
Control
No previous psychiatric history
231575743
231677388
101646
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901224_901224
N/A
N/A
Control
No previous psychiatric history
231574707
231677388
102682
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902605_902605
N/A
N/A
Control
No previous psychiatric history
231575743
231677388
101646
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_257
NA
NA
Control
NA
NA
232587190
233192271
605082
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split545
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
231727447
231813134
85688
Unknown
Duplication
No
kousoulidou_13_ASD_discovery_controls-control1
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
kousoulidou_13_ASD_discovery_controls-control10
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
kousoulidou_13_ASD_discovery_controls-control2
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
kousoulidou_13_ASD_discovery_controls-control3
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
kousoulidou_13_ASD_discovery_controls-control4
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
kousoulidou_13_ASD_discovery_controls-control5
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
kousoulidou_13_ASD_discovery_controls-control6
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
kousoulidou_13_ASD_discovery_controls-control7
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
kousoulidou_13_ASD_discovery_controls-control8
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
kousoulidou_13_ASD_discovery_controls-control9
N/A
N/A
Control
231783130
231823408
40279
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13737.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
234309100
234471257
162158
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0202
26 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
232005273
232032410
27138
GRCh38
Deletion
N/A
levy_11_ASD_discovery_controls-11809.s1
NA
F
Control
NA
NA
233054484
233086922
32439
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11615.s1
10.7
F
Control (matched sibling)
NA
NA
231584298
231672969
88672
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11809.s1
8.4
F
Control (matched sibling)
NA
NA
233065121
233081664
16544
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient3
Paternal
Unknown
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
celestino-soper_11_ASD_discovery_cases-11178
Unknown
Simplex
NA
TSNAX,TSNAX-DISC1
celestino-soper_11_ASD_discovery_cases-11426
Unknown
Simplex
NA
SPRTN
crepel_10_ASD_discovery_cases-patient1
qPCR
Paternal
Multiplex
Segregated
RNU5A-5P,RN7SL299P,RNU6-1211P,MAP10,RNU1-74P,RPS7P3,RNU4-77P,MIR4427,DISC1-IT1,LINC01745,LINC01744,NTPCR,MAP3K21,KCNK1,LINC00582,SIPA1L2,PCNX2,TSNAX-DISC1,DISC1
crepel_10_ASD_discovery_cases-patient2
qPCR
Paternal
Multiplex
Segregated
RNU5A-5P,RN7SL299P,RNU6-1211P,MAP10,RNU1-74P,RPS7P3,RNU4-77P,MIR4427,DISC1-IT1,LINC01745,LINC01744,NTPCR,MAP3K21,KCNK1,LINC00582,SIPA1L2,PCNX2,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_cases-case13133_1503
Unknown
TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_cases-case14380_4930
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_cases-case4143_1
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_cases-case4239_1
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_cases-case4291_1
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_cases-case5115_3
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_cases-case6270_3
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_cases-case6310_3
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
gai_11_ASD_replication_cases-AU1102301
Inherited
TSNAX-DISC1, DISC1, DISC2
gai_11_ASD_replication_cases-AU1102303
Inherited
TSNAX-DISC1, DISC1, DISC2
girirajan_13a_ASD_discovery_cases-11712.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
TSNAX-DISC1,DISC1
hnoonual_17_ASD_discovery_cases-caseAR44-3
Unknown
RNU5A-5P,TSNAX-DISC1,DISC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001611
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AGT,CAPN9,COG2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003850
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DISC1
kanduri_15_ASD_discovery_cases-case1869
Maternal
Unknown
Unknown
DISC1
kousoulidou_13_ASD_discovery_cases-patient2
qPCR
De novo
Unknown
Possibly segregated
TSNAX-DISC1,DISC1
krumm_15_ASD_discovery_cases-case11712.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
TSNAX-DISC1,DISC1
krumm_15_ASD_discovery_cases-case12960.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
NTPCR,PCNX2
kushima_18_ASD_discovery_cases-caseASD0208
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Simplex
Unknown
DISC1-IT1,TSNAX-DISC1,DISC1
pinto_10_ASD_discovery_cases-case13133_1503
qPCR-Maternal
maternal
Simplex
NA
TSNAX-DISC1,DISC1
pinto_10_ASD_discovery_cases-case5115_3
Agilent1M
maternal
NA
NA
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
prasad_12_ASD_discovery_cases-case100678L
Unknown
Unknown
Unknown
FAM89A
prasad_12_ASD_discovery_cases-case93914
Unknown
Unknown
Unknown
KCNK1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
Not tested by qPCR
Unknown
Unknown
Unknown
LINC00582,TSNAX-DISC1,DISC1
sanders_11_ASD_discovery_cases-11144.p1
Paternal
Simplex (quad-proband matched)
Segregated
RNU6-1211P
sanders_11_ASD_discovery_cases-11357.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
sanders_11_ASD_discovery_cases-11712.p1
Maternal
Simplex (quad-proband matched)
Segregated
TSNAX-DISC1,DISC1
sanders_11_ASD_discovery_cases-12339.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
sanders_11_ASD_discovery_cases-12435.p1
Paternal
Simplex (quad-proband matched)
Segregated
LINC01745
sanders_11_ASD_discovery_cases-12690.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12960.p1
Paternal
Simplex (trio)
NA
NTPCR,PCNX2
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient7
FISH
Maternal
Unknown
Unknown
RNU6-1211P,MAP10,RNU1-74P,LINC01745,LINC01744,NTPCR,SIPA1L2,PCNX2
yin_16_ASD_discovery_cases-case49
Unknown
Unknown
Unknown
TSNAX-DISC1,DISC1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case5-0137-003
RT-qPCR or WGS
Unknown
TSNAX-DISC1,DISC1
null
zhou_19_ASD_discovery_cases-caseAU021603
qPCR
Maternal
TSNAX-DISC1,DISC1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015154_
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-control110036020436_
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-control110036020865_
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlB277883_0067942601
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlB412301_1007874436
Unknown
COA6
engchuan_15_ASD_discovery_controls-controlB534737_1007852659
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlB553658_1007850198
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlB566863_1007875835
Unknown
MAP3K21
engchuan_15_ASD_discovery_controls-controlB719092_1007853947
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlB719140_1007853740
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlB903773_0067949271
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlB948702_1007854260
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlB962764_1007843925
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlB981601_1007842471
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlHABC_900292_900292
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlHABC_900514_900514
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlHABC_900883_900883
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlHABC_901224_901224
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
engchuan_15_ASD_discovery_controls-controlHABC_902605_902605
Unknown
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
girirajan_11_ASD_discovery_controls-NIMH_257
Unknown
RNU6-1211P,MAP10,RNU1-74P,LINC01745,LINC01744,NTPCR,PCNX2
kanduri_15_ASD_discovery_controls-control_split545
Unknown
DISC1
kousoulidou_13_ASD_discovery_controls-control1
Unknown
TSNAX-DISC1,DISC1
kousoulidou_13_ASD_discovery_controls-control10
Unknown
TSNAX-DISC1,DISC1
kousoulidou_13_ASD_discovery_controls-control2
Unknown
TSNAX-DISC1,DISC1
kousoulidou_13_ASD_discovery_controls-control3
Unknown
TSNAX-DISC1,DISC1
kousoulidou_13_ASD_discovery_controls-control4
Unknown
TSNAX-DISC1,DISC1
kousoulidou_13_ASD_discovery_controls-control5
Unknown
TSNAX-DISC1,DISC1
kousoulidou_13_ASD_discovery_controls-control6
Unknown
TSNAX-DISC1,DISC1
kousoulidou_13_ASD_discovery_controls-control7
Unknown
TSNAX-DISC1,DISC1
kousoulidou_13_ASD_discovery_controls-control8
Unknown
TSNAX-DISC1,DISC1
kousoulidou_13_ASD_discovery_controls-control9
Unknown
TSNAX-DISC1,DISC1
krumm_15_ASD_discovery_controls-control13737.s1
Omni2.5-4v1
Paternal
COA6,TARBP1,SLC35F3
kushima_18_ASD/SCZ_discovery_controls-controlCON0202
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
DISC1
levy_11_ASD_discovery_controls-11809.s1
Maternal
Simplex
NA
PCNX2
sanders_11_ASD_discovery_controls-11615.s1
Maternal
Simplex (quad)
NA
RNU5A-5P,LINC00582,TSNAX-DISC1,DISC1
sanders_11_ASD_discovery_controls-11809.s1
Maternal
Simplex (quad)
NA
PCNX2
No Animal Model Data Available