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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
The SPARK Consortium
Clinical Behavioral Neuroscience (Pediatrics)
Psychiatry & Behavioral Sciences
Occupational Therapy
Educational Psychology
Research output
:
Contribution to journal
›
Article
›
peer-review
254
Scopus citations
Overview
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Dive into the research topics of 'Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes'. Together they form a unique fingerprint.
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Keyphrases
Autism
100%
Inherited Variants
100%
Moderate-risk Genes
100%
Gain-of-function mutation
75%
NAV3
75%
ITSN1
50%
SCAF1
50%
Cognitive Impairment
25%
Moderating Effect
25%
Risk Genes
25%
Relative Risk
25%
Penetrant
25%
Genetic Risk
25%
New Risks
25%
Power Calculation
25%
Exome
25%
FOXP1
25%
SCN2A
25%
Autism Risk
25%
SHANK3
25%
MARK2
25%
Two-stage Analysis
25%
CHD8
25%
Coding Variants
25%
Biochemistry, Genetics and Molecular Biology
Exome
100%
SHANK3
100%
CHD8
100%
Genetic Risk
100%
FOXP1
100%
MARK2
100%
Medicine and Dentistry
Autism
100%
Cognitive Defect
20%
Genetic Risk
20%
Exome
20%
Neuroscience
Autism
100%
Cognitive Disorders
20%
FOXP1
20%
MARK2
20%