Figure S8. Multiple-hit model for ASD excluding DNM cases. Shown are comparisons of autism probands and unaffected siblings with one or more DNM. Logistic histograms compare residual DNM counts (DNM number residuals, note: after correction, a residual of 0 does not represent a count of 0) adjusted for the father’s age at birth and gender, and the probability of being a proband or unaffected sibling. This analysis demonstrates an increased burden of multiple hits among affected individuals (OR = 1.15, p = 0.0278) (a). When samples are stratified by genetic sex, we observe a slight increase but no significant effect among males (OR = 1.09, p = 0.6) (b), while females demonstrate a stronger (OR = 1.3, p = 0.037) (c) effect than the grouped ana...
To explore the interplay between new mutation, transmission, and gender bias in genetic disease requ...
International audienceUNLABELLED: ABSTRACT: BACKGROUND: The inheritance pattern in most cases of aut...
International audienceUNLABELLED: ABSTRACT: BACKGROUND: The inheritance pattern in most cases of aut...
Figure S4. Distribution of DNMs for SCN2A and CHD8. LGD (red) and missense (blue) DNMs with respect ...
Figure S9. Parent carriers of CHD8 LGD mutations show autistic traits. The density plots are based o...
Figure S3. Fraction of target based on >â8-fold sequence coverage by gene. Box and whisker plots s...
Figure S5. Distribution of missense mutations in SCN2A and CHD8. a. Missense DNMs in SCN2A are mainl...
Figure S2. QC of MIPs cohort. QC analysis of the percentage of MIPs with at least eight reads per sa...
Autism symptom levels ( M + 95 % CI) in non-ASD siblings (male and female siblings combined) from f...
Data 5. Summary of clinical information for some patients with DNMs. (XLSX 19 kb
Main effects examining SRS total raw score by family incidence type and family sex type in ASD-affec...
Main effect and interaction tests examining SRS total raw score by family incidence type and family ...
Frequency distributions of SRS total raw scores in non-ASD and ASD-affected children from single and...
Main effect and interaction tests examining SRS total raw score by family incidence type and diagnos...
Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separat...
To explore the interplay between new mutation, transmission, and gender bias in genetic disease requ...
International audienceUNLABELLED: ABSTRACT: BACKGROUND: The inheritance pattern in most cases of aut...
International audienceUNLABELLED: ABSTRACT: BACKGROUND: The inheritance pattern in most cases of aut...
Figure S4. Distribution of DNMs for SCN2A and CHD8. LGD (red) and missense (blue) DNMs with respect ...
Figure S9. Parent carriers of CHD8 LGD mutations show autistic traits. The density plots are based o...
Figure S3. Fraction of target based on >â8-fold sequence coverage by gene. Box and whisker plots s...
Figure S5. Distribution of missense mutations in SCN2A and CHD8. a. Missense DNMs in SCN2A are mainl...
Figure S2. QC of MIPs cohort. QC analysis of the percentage of MIPs with at least eight reads per sa...
Autism symptom levels ( M + 95 % CI) in non-ASD siblings (male and female siblings combined) from f...
Data 5. Summary of clinical information for some patients with DNMs. (XLSX 19 kb
Main effects examining SRS total raw score by family incidence type and family sex type in ASD-affec...
Main effect and interaction tests examining SRS total raw score by family incidence type and family ...
Frequency distributions of SRS total raw scores in non-ASD and ASD-affected children from single and...
Main effect and interaction tests examining SRS total raw score by family incidence type and diagnos...
Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separat...
To explore the interplay between new mutation, transmission, and gender bias in genetic disease requ...
International audienceUNLABELLED: ABSTRACT: BACKGROUND: The inheritance pattern in most cases of aut...
International audienceUNLABELLED: ABSTRACT: BACKGROUND: The inheritance pattern in most cases of aut...