The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index; none of the 26 sources its claims cite is checked for support yet.
Low load for disruptive mutations in autism genes and their biased transmission
Open accessAbstract
Significance: Gene targets of de novo mutation in autistic children have a lighter load of rare disruptive variation than typical human genes. This finding suggests such mutations are under negative selection and autism genes are highly vulnerable to mutation. Disruptive variants in these genes have biased transmission: They are more frequently transmitted to affected children, and more often from mothers than from fathers. Targets of mutation in lower intelligence quotient (IQ) affected children have a lower load of disruptive mutations than targets of mutation in higher IQ affected children. Biased transmission is seen more frequently to affected children of lower IQ. These observations are consistent with a correlation between severity of mutations and phenotype, and based on them, we list candidate autism genes ordered by likelihood.
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37 Own result · 21 Not checked yet · 12 No basis given · 8 Own interpretation · 7 Own method
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In the paper
“Judging by this measure, DN target gene sets from affected children with lower IQ have significantly lower LGD ratios than DN targets from siblings (P = 0.0011).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
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In the paper
“After posterior probabilities are calculated, including adjustment for transmission, the scores of target genes in the various classes become bimodal (Fig. 2, Right).”
- Also stated in: § Discussion · boosted
“Moreover, we show a bimodal distribution in mutational load in the proportion predicted by theory for candidate autism genes and bystander target genes.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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- The authors state this as an assumption: Autism vulnerable genes and intolerant (protected) genes are treated as the same set.
- The authors state this as an assumption: DN and rare parental data are independent.
- The authors state this as an assumption: A protected gene has only 10% of typical share of UR LGD mutations.
- Also stated in: § Discussion · boosted
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In the paper
“By contrast, UR missense accumulation proportionately follows UR synonymous accumulation (Fig. 1B).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“An ascertainment differential is not seen for mutations that are not disruptive, such as synonymous variants.”
§ Low load for disruptive mutations in autism genes and their biased transmission > autism spectrum disorder | gene vulnerability | disruptive mutations | biased transmission | autism genes
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In the paper
“The load of UR LGD variants is not linear with the load of UR synonymous variants.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“We estimate that one in five individuals is burdened with one DN mutation that reduces fecundity.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
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- Rests on an assumption: The majority of LGD mutations, and the subset of nonsense mutations, are harmful.
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In the paper
“We separately calculate the P value of the signal from both sources, and observe great significance only from the longer genes.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“We confirm this hypothesis in an explicit test by measuring the load of disruptive mutations in wholeexome sequence databases from two cohorts.”
- Also stated in: § autism spectrum disorder | gene vulnerability | disruptive mutations | biased transmission | autism genes · plain
“Gene targets of de novo mutation in autistic children have a lighter load of rare disruptive variation than typical human genes.”
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- Also stated in: § autism spectrum disorder | gene vulnerability | disruptive mutations | biased transmission | autism genes · plain
In the paper
“We also find a strong signal for biased transmission in the functional categories of genes previously associated with ASD (10).”
§ Low load for disruptive mutations in autism genes and their biased transmission > autism spectrum disorder | gene vulnerability | disruptive mutations | biased transmission | autism genes
What the sources say
- Not checked yetcites [10] source
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In the paper
“On the other hand, the lower LGD ratio of the DN targets of higher IQ males does not reach standard statistical significance (P = 0.1066).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
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- It may state two separate claims as one. 28
- Probably not a substantial claim. 13
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In the paper
“Almost as striking is the decomposition by affected IQ: A differential of 70 comes from precisely half of the families with an affected child of lower IQ, and 30 come from families with an affected child of higher IQ (P = 0.0071 and P = 0.1489, respectively).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“The ascertainment differential of transmission of UR LGD variants in the genes with a single LGD variant is 101, contributing to diagnosis in perhaps 5.4% of families from the SSC.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“The embryonically expressed category shows a surprising differential transmission of UR LGD variants to affected children over siblings.With 298 opportunities, 31 more are transmitted only to the affected child rather than to the unaffected sibling among quad families (P = 0.0073 by permutation test).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“All gene classes enriched for autism targets show a decreased load of UR LGD variants, especially the FMRP-associated class, as previously noted (10).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
What the sources say
- Not checked yetcites [10] source
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In the paper
“We observe differential transmission of 76 from the mother compared with 25 from the father with P = 0.0031 and P = 0.1890, respectively.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“The total number of UR synonymous variants is similar, as are the ratios of missense, synonymous, nonsense, and LGD mutations, as well as the ratios of transition and transversion UR variants.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
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In the paper
“The estimates of the causal class vulnerability for the true autism genes based on the rec in aut, autL, and aut values are close (0.17, 0.19 and 0.15, respectively) and quite low.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“The indices are 1.0 for unaffected siblings, by definition, and 0.15 for affected children.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
plain- Asserted: passes — The authors put it forward as true.
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In the paper
“Adjusting for recurrently hit genes (Methods), we estimate that 44% of the gene set for lower IQ affected individuals and 30% for higher IQ individuals are causal targets.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
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In the paper
“Target classes from affected children show a markedly lower load for UR LGD variants than the class from siblings, although this difference is not significant for the affected children of higher IQ.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“For four of these genes, the transmissions are mainly from the mother, but for one, the histone methyltransferase KMT2C, each of the four transmissions is from the father (Fig. S2).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
plaincorrelational- Asserted: passes — The authors put it forward as true.
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In the paper
“Despite this even split, nearly all the signal in differential transmission comes from the longer genes: the differential is 93 in the longer genes and 8 in the shorter genes.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
plaincorrelational- Asserted: passes — The authors put it forward as true.
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In the paper
“Moreover, the proportion of genes with a reduced load matches expectations based on the ascertainment differential in DN mutation frequency between affected and unaffected siblings, with target genes falling into two classes: those genes with reduced mutational load and those genes without (Fig. 2).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
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In the paper
“Recently published findings using the RVIS (16) present evidence for maternal transmission within the SSC of “private” LGD mutations for the lower half of RVIS-tolerant genes, and our result on maternal transmission based purely on genes with UR LGD mutations is very similar (statistically significant with a P = 0.003 for all, and P > 0.0005 for the more vulnerable long genes).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
What the sources say
- Not checked yetcites [16] source
plaincorrelational- Asserted: passes — The authors put it forward as true.
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In the paper
“Similarly, we computed the proportion of causal genes in the targets of DN LGD mutations in affected children with lower (44%) and higher (30%) nonverbal IQs.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Dataset.
plaincorrelational- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
- The authors state this as an assumption: Noncontributory DN LGD mutations in affected children occur at same rate as DN LGD mutations in unaffected individuals, and their target genes have similar UR LGD loads.
- The authors state this as an assumption: Vulnerability of noncausal genes is 1, i.e., they have same load as targets of DN LGD mutation in unaffected siblings.
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In the paper
“The LOWESS fit agrees closely with the square root model for the number of UR LGD mutations as a function of the number of UR synonymous variants, but it aligns better with the linear fit for the number of UR missense as a function of UR synonymous variants.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Heuristic Prioritization Score.
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In the paper
“These two target classes were discovered on the same sequencing platforms, sequenced to the same depth, and processed through identical informatics pipelines, and they arise in children matched for germ-line background by being full siblings.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
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In the paper
“We determined significance by permuting”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“Because individuals with ASD have drastically reduced fecundity (11), the net prediction is that these target genes should be under severe purifying selection, and hence have a reduced load of disruptive variants in the human gene pool.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
What the sources say
- Not checked yetcites [11] source
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In the paper
“There are 39 such targets (10,18), and we previously estimated that ∼90% of these targets are true causal targets.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“We previously computed that genes with de novo (DN) likely gene-disruptive (LGD) mutations in children with autism spectrum disorders (ASD) have high vulnerability: disruptive mutations in many of these genes, the vulnerable autism genes, will have a high likelihood of resulting in ASD.”
What the sources say
- Not checked yetcites [10] source
hedgeddirect- Asserted: passes — The authors put it forward as true.
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In the paper
“From recurrence and overlap analysis of DN LGD targets, we estimate ∼500 causative ASD target genes in the affected individuals with lower intelligence quotients (IQ), and these targets are enriched in certain functional classes (10).”
§ Low load for disruptive mutations in autism genes and their biased transmission > autism spectrum disorder | gene vulnerability | disruptive mutations | biased transmission | autism genes
What the sources say
- Not checked yetcites [10] source
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In the paper
“Because individuals with ASD have lower fecundity, such mutations in autism genes would be under strong negative selection pressure.”
- Also stated in: § autism spectrum disorder | gene vulnerability | disruptive mutations | biased transmission | autism genes · boosted
“Because people with ASD have lower fecundity than the general population, a disruptive mutation in an autism gene will be under strong purifying selection and quickly eliminated from the population (11).”
What the sources say
- Not checked yetcites [11] source
boosteddirect- Asserted: passes — The authors put it forward as true.
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- Also stated in: § autism spectrum disorder | gene vulnerability | disruptive mutations | biased transmission | autism genes · boosted
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In the paper
“Obviously, some of these parents may be carriers of variation contributing to ASD, so statistics extracted from these families may overestimate the rare variation seen in candidate autism genes.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
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In the paper
“It is possible that some SSC parents carry UR LGD mutations that have been ascertained because they caused autism in their affected children upon transmission.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
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In the paper
“Because the great majority of missense mutations will be under weak to neutral selection, we expect accumulation of missense will be proportional to synonymous mutation (Fig. 1B).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
plaincorrelational- Asserted: passes — The authors put it forward as true.
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Probably not a substantial claim. The paper may give no reason why it holds. It may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“To determine if these lower ratios were significant, we performed 10,000 permutations, randomly swapping genes between sets while keeping the size of sets fixed, and computed the LGD ratio.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
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In the paper
“for example, that there is a fourfold greater concordance in half siblings sharing the maternal rather than paternal germ-line (17).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
What the sources say
- Not checked yetcites [17] source
plaincorrelational- Asserted: passes — The authors put it forward as true.
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In the paper
“The advantage of using the SSC is that the WES data were obtained with similar capture and sequencing platforms and were subject to a uniform analysis pipeline, and the coverage is known for every nucleotide position in every gene in every person within the targeted regions.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
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In the paper
“The association of load with causation provides us with a tool by which we can study transmission of causative factors.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
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In the paper
“The power of using gene tolerance for disruptive mutation should be of general value in the analysis of genetic disorders that reduce fecundity.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
plain- Asserted: passes — The authors put it forward as true.
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In the paper
“Our results strengthen this finding with somewhat stronger statistics by using a larger set of target genes divided by severity, by using a larger control population to hone the tolerance score, or both.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
hedged- Asserted: passes — The authors put it forward as true.
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None of the sources cited for this claim have been checked yet.
In the paper
“Earlier population studies have indicated the importance of a shared maternal bloodline in sibling risk (19,20).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
hedgedcorrelational- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“We have relied solely on LGD variants because, unlike missense variants that are hard to interpret, their presence in the interior of a well-annotated gene (Fig. S1) will almost certainly cause disruption of gene function.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
boosteddirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. It may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“By this theory, UR variants of vulnerable genes would be short-lived in the population, and therefore not detectable by population association studies.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
hedgeddirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“Such a score should not be treated as absolute probability for a gene to be an autism gene.It is a heuristic that allows us to prioritize genes and has several useful properties.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Heuristic Prioritization Score.
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
- The authors state this as an assumption: Autism vulnerable genes and intolerant (protected) genes are treated as the same set.
- The authors state this as an assumption: DN and rare parental data are independent.
- The authors state this as an assumption: A protected gene has only 10% of typical share of UR LGD mutations.
None of the sources cited for this claim have been checked yet.
In the paper
“That autism candidate genes have a reduced load of damaging mutation has been reported earlier by others using different methods for measuring tolerance of mutation based largely on missense mutation and/or overlapping autism sample sets (13,14,16).”
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
What the sources say
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim.
The paper relies on this without support.
The majority of LGD mutations, and the subset of nonsense mutations, are harmful.
“The majority of LGD mutations (and the subset of nonsense) will be harmful, but this scenario is not so for missense mutations.”
The authors state this as an assumption.
Noncontributory DN LGD mutations in affected children occur at same rate as DN LGD mutations in unaffected individuals, and their target genes have similar UR LGD loads.
“The rate of noncontributory DN LGD mutations per affected individual should match the rate of DN LGD mutations in unaffected individuals; moreover, the genes targeted by noncontributory DN LGD mutations in affected and unaffected siblings should have similar loads of UR LGD mutations.”
The authors state this as an assumption.
Vulnerability of noncausal genes is 1, i.e., they have same load as targets of DN LGD mutation in unaffected siblings.
“where the vulnerability of noncausal genes is set to 1, reflecting the assumption that they have the same load as the targets of DN LGD mutation in unaffected siblings.”
The authors state this as an assumption.
Autism vulnerable genes and intolerant (protected) genes are treated as the same set.
“We developed a simple heuristic gene score based on the naive assumption that the set of autism vulnerable genes and the set of intolerant (protected) genes are the same.”
The authors state this as an assumption.
DN and rare parental data are independent.
“Using the Bayes rule, and further assuming that the DN and rare parental data are independent, we can rewrite this conditional probability as:”
The authors state this as an assumption.
A protected gene has only 10% of typical share of UR LGD mutations.
“To define pðRjAÞ, we assume that a protected gene has only 10% of the typical share of UR LGD mutations:”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Evidence for the contribution of inherited protein truncating variants to ASD has also been found by exome sequencing of families (Iossifov et al., 2015; Krumm et al., 2015)”
From Getting to the cores of autism (2019) · cites this paper as Iossifov et al., 2015
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
“A differential of 70 comes from precisely half of the families with an affected child of lower IQ, and 30 come from families with an affected child of higher IQ”
§ Low load for disruptive mutations in autism genes and their biased transmission > Heuristic Prioritization Score.
“| Higher IQ | 1,528 | 1,528 | 374 | 403 | 391 | 360 | 31 | 0.1489 |”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ Low load for disruptive mutations in autism genes and their biased transmission > Discussion
“P > 0.0005 for the more vulnerable long genes”
§ Low load for disruptive mutations in autism genes and their biased transmission > Heuristic Prioritization Score.
“| Long | 1,557 | 1,557 | 384 | 412 | 427 | 334 | 93 | 0.0005 |”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
“Eleven DN LGD targets are "demoted" by virtue of having LGD variants, including RIMS1 and KDM5B.”
§ Low load for disruptive mutations in autism genes and their biased transmission > Differential Transmission of Alleles from Vulnerable Genes.
“On the other hand, five of these 12 genes (KMT2C, KATNAL2, ADNP, DIP2A, and PTEN) are "promoted" to be causal”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
§ Low load for disruptive mutations in autism genes and their biased transmission > Sources of Human Sequence Variation from Whole-Exome Sequence
“0.16 over all affected individuals”
§ Low load for disruptive mutations in autism genes and their biased transmission > Heuristic Prioritization Score.
“| aut | 509 | 0.36 | 24,758 | 2,062 | 0.08 | 0.0009 | 2,959 | 0.70 | 0.15 |”
Citations
Cites
Synaptic, transcriptional and chromatin genes disrupted in autism
Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature · doi:10.1038/nature13772 · Cited by 2,746
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585
Self-citationSporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · cited 1×
“They apply their particular tolerance score on targets from a subset of the Simons Simplex Collection (SSC), a collection of simplex autism families (5, 7, 8, 15).”
BackgroundDe novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.06.013 · Cited by 2,072
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734
De Novo Gene Disruptions in Children on the Autistic Spectrum
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446
Self-citationSanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263
Sandin, S., Lichtenstein, P., Kuja-Halkola, R., Larsson, H., Hultman, C. M., & Reichenberg, A. (2014) · JAMA · doi:10.1001/jama.2014.4144 · Cited by 1,073 · cited 1×
“Earlier population studies have indicated the importance of a shared maternal bloodline in sibling risk (19, 20).”
BackgroundA framework for the interpretation of de novo mutation in human disease
Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics · doi:10.1038/ng.3050 · Cited by 979
Cited by
Sorted by citations
Items 101–173 of 173
The Autism Palette: Combinations of Impairments Explain the Heterogeneity in ASD
Fóthi, Á., Lörincz, A., & Soorya, L. V. (2020) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2020.503462 · Cited by 9
Whole-genome deep learning analysis reveals causal role of noncoding mutations in autismPreprint
Zhou, J., Park, C. Y., Theesfeld, C. L., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/319681 · Cited by 7
Toraman, B., Bilginer, Ç., Hesapçıoğlu, S. T., Göker, Z., Soykam, H. O., Ergüner, B., Dinçer, T., Yıldız, G., Ünsal, S., Kasap, B. K., et al. (2021) · The Journal of Gene Medicine · doi:10.1002/jgm.3322 · Cited by 5
Shiota, Y., Nishiyama, T., Yokoyama, S., Yoshimura, Y., Hasegawa, C., Tanaka, S., Iwasaki, S., & Kikuchi, M. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1352480 · Cited by 7
Epigenetic Epidemiology of Autism and Other Neurodevelopmental Disorders
Wang, S. E., & Jiang, Y. (2022) · Springer eBooks · doi:10.1007/978-3-030-94475-9_17 · Cited by 8
Vilela, J. E. R., Martiniano, H., Marques, A. R., Santos, J. X., Asif, M., Rasga, C., Oliveira, G., & Vicente, A. M. (2023) · Biomedicines · doi:10.3390/biomedicines11112971 · Cited by 7
Orrù, S., Papoulidis, I., Siomou, E., Papadimitriou, D. T., Sotiriou, S., Nikolaidis, P., Eleftheriades, M. I., Papanikolaou, E., Thomaidis, L., & Manolakos, E. (2019) · Biomedical Reports · doi:10.3892/br.2019.1210 · Cited by 6
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan
Perfilyeva, A. V., Беспалова, К., Perfilyeva, Y. V., Skvortsova, L., Musralina, L., Zhunussova, G., Khussainova, E., Iskakova, U., Bekmanov, B., & Djansugurova, L. (2022) · Disease Markers · doi:10.1155/2022/1509994 · Cited by 6
Autism spectrum disorder and Coffin–Siris syndrome—Case report
Milutinovic, L., Grujičić, R., Mandić-Maravić, V., Joksić, I., Ljubomirovic, N., & Pejovic-Milovancevic, M. M. (2023) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1199710 · Cited by 5
Chen, C., Wang, L., Chern, S., et al. (2021) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2020.11.024 · Cited by 5
Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genesPreprint
Feliciano, P., Feliciano, P., Zhou, X., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/516625 · Cited by 5
Sharing parental genomes by siblings concordant or discordant for autism
Wroten, M., Yoon, S. C., Andrews, P., Yamrom, B., Ronemus, M., Buja, A., Krieger, A. Μ., Levy, D., Ye, K. Q., Wigler, M. H., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100319 · Cited by 4
Self-citationGenome-wide characterization of genetic and functional dysregulation in autism spectrum disorderPreprint
Krishnan, A., Zhang, R., Yao, V., et al. (2016) · bioRxiv · doi:10.1101/057828 · Cited by 4
Tesner, P., Drabova, J., Stolfa, M., et al. (2018) · Molecular Cytogenetics · doi:10.1186/s13039-018-0377-1 · Cited by 3
Mai, T., Chen, C.-Y., Chiang, T.-W., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-155043/v1 · Cited by 3
De novo indels within introns contribute to ASD incidencePreprint
Muñoz, A., Yamrom, B., Lee, Y.-H., Andrews, P., Marks, S., Lin, K., Wang, Z., Krainer, A. R., Darnell, R. B., Wigler, M. H., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/137471 · Cited by 3
Self-citationArta, R. K., Watanabe, Y., Egawa, J., Lemmon, V., & Someya, T. (2025) · Psychiatry and Clinical Neurosciences · doi:10.1111/pcn.13847 · Cited by 4
Cornejo, K. G., Venegas, A., Sono, M. H., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.12.30.573688 · Cited by 3
Molecular diagnosis of autism spectrum disorder through whole exome sequencing
de Almeida, T. F. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2019.tde-04022019-092804 · Cited by 2
Spielman, B. P., Bagnall-Moreau, C., Chen, F., Balvuena, C., Cruz, C., Carrión, J., Vo, A., Arazi, A., & Brimberg, L. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03298-1 · Cited by 4
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disordersPreprint
Pizzo, L., Jensen, M., Polyak, A., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/257758 · Cited by 2
Jiao, C., Wang, J. M., Kuang, H., Wu, Z., & Liu, T. (2022) · PubMed · doi:10.19723/j.issn.1671-167x.2022.02.002 · Cited by 2
Aberrant mRNA splicing and impaired hippocampal neurogenesis in Grin2b mutant mice
Farsi, Z., Nicolella, A. A., Simmons, S., Shin, W., Kang, M., Lee, G., Kwon, M. J., Brenner, K. S., Picard, I., Shepard, N., et al. (2026) · iScience · doi:10.1016/j.isci.2026.114700 · Cited by 2
Unified inference of missense variant effects and gene constraints in the human genomePreprint
Huang, Y.-F. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/757468 · Cited by 2
Epigenetic Mechanisms of Autism Spectrum Disorders
Yan, Z. (2025) · Springer eBooks · doi:10.1007/978-3-031-73368-0_103 · Cited by 2
Risk for Autism Across Generations
Reichenberg, A., Schendel, D., Gissler, M., Bresnahan, M. A., Francis, R. W., Levine, S. Z., Sourander, A., Parner, E. T., Windham, G. C., Yip, B. H. K., et al. (2026) · Biological Psychiatry · doi:10.1016/j.biopsych.2026.04.023 · Cited by 3
Agarwala, S., Veerappa, A. M., & Ramachandra, N. B. (2020) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-020-00091-3 · Cited by 2
Ma, K., McDaniel, K., Zhang, D., Webb, M., & Qin, L. (2024) · Genes · doi:10.3390/genes15121619 · Cited by 2
Dapas, M., Sisk, R. K., Legro, R. S., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/460972 · Cited by 2
Chorbadjiev, L., Cokol, M., Weinstein, Z., Shi, K. Y., Fleisch, C., Dimitrov, N., Mladenov, S., Todorov, I., Ivanov, I., Xu, S., et al. (2025) · Genome Research · doi:10.1101/gr.280356.124 · Cited by 2
Self-citationThe Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARIPreprint
Chorbadjiev, L., Cokol, M., Weinstein, Z., Shi, K. Y., Fleisch, C., Dimitrov, N., Mladenov, S., Xu, S., Hall, J., Ford, S., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.08.579330 · Cited by 1
Self-citationGermline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsyPreprint
Mehinovic, E., Gray, T., Campbell, M. C., et al. (2021) · medRxiv · doi:10.1101/2021.12.06.21264306 · Cited by 1
Can machine learning aid in identifying disease genes? The case of autism spectrum disorderPreprint
Gunning, M., & Pavlidis, P. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.11.26.394676 · Cited by 1
Pervasive epistasis modulates neurodevelopmental defects of the autism-associated 16p11.2 deletionPreprint
Iyer, J. S., Singh, M. D., Jensen, M., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/185355 · Cited by 1
Synaptic protein mutations in autism
Sauer, A. K., Walsh, J. A., Curran, D., Zohourian, N., Stanton, J. E., Zabetakis, I., Brown, J. A. L., & Grabrucker, A. M. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107365 · Cited by 4
Intracellular Pathways Associated with the Etiology of Autism
Russo, A. J. (2017) · InTech eBooks · doi:10.5772/67206
Wang, X., Ling, Z., Luo, T., Zhou, Q., Zhao, G., Li, B., Xia, K., & Li, J. (2022) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-022-05824-4 · Cited by 1
Buja, A., Volfovsky, N., Krieger, A. Μ., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/141200 · Cited by 1
Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor Sema 3APreprint
Creighton, B. A., Ajit, D., Afriyie, S., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.05.03.442401 · Cited by 1
Pizzo, L., Lasser, M. C., Yusuff, T., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.09.14.295923 · Cited by 1
Risque d’autisme : une architecture complexe
Chaste, P. (2018) · Enfances & Psy · doi:10.3917/ep.080.0103 · Cited by 1
Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes
Tan, S., Lyu, Y., Sun, X., Guo, R., Zhang, X., Song, Z., Chen, K., Li, C., Zheng, Y., Jiang, C., et al. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03754-6 · Cited by 1
Full-length isoform transcriptome of developing human brain provides new insights into autismPreprint
Chau, K., Zhang, P., Urresti, J., Amar, M., Pramod, A. B., Chen, J., Thomas, A., Corominas, R., Lin, G. N., & Iakoucheva, L. M. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.27.175489 · Cited by 2
Detecting genomic regions enriched for reciprocal recombination in autism spectrum disorderPreprint
Mahoney, C. F., Salter‐Townshend, M., Fitzpatrick, D. J., & Shields, D. C. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.26.727863
Expanding the Genetic and Mutation Spectrum of ASPM-associated Neurodevelopmental Disorders
Afsar, T., Khan, S., Nayab, A., Waqas, A., Mahmood, A., Umair, M., & Razak, S. (2023) · Journal of Disability Research · doi:10.57197/jdr-2023-0032
An analysis of genetic variants associated with autism spectrum disorder
Callaghan, D. B. (2018) · cIRcle (University of British Columbia) · doi:10.14288/1.0362156
Silva, A. L. T. E. (2020) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.41.2020.tde-30112020-001426
A Novel Variant of the CHD8 Gene in a Patient with Autism Spectrum Disorder
Falcone, E., Bauleo, A., Stefano, L. D., Brando, R., Maietta, S., Tabolacci, E., Montesanto, A., Pace, V., Apa, R., Puntorieri, D., et al. (2026) · Genes · doi:10.3390/genes17060599
魏, 善. (2025) · Advances in Clinical Medicine · doi:10.12677/acm.2025.15102858
Lu, L., Sarkar, A. K., Dao, L., Liu, Y., Ma, C., Thwin, P. H., Chang, X., Yoshida, G., Li, A., Wang, C., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.10.14.618205
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Reis, V. N. D. S. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2019.tde-23082019-163447
Ankyrin B Promotes Developmental Spine Regulation in the Mouse Prefrontal CortexPreprint
Murphy, K. E., Duncan, B. W., Sperringer, J. E., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.07.11.548527
Introduction to Neurogenetic Disability
Malviya, R., & Rajput, S. (2026) · SpringerBriefs in modern perspectives on disability research. · doi:10.1007/978-981-95-9223-4_1
Uncovering the complexity of structural variants in four individuals with autism spectrum disorder
Dada, S., Dixon, K., Akbari, V., et al. (2024) · Genome · doi:10.1139/gen-2024-0121
Hudac, C. M., Kurtz‐Nelson, E. C., Rutter, T. M., Peterson, J. L., Hoekzema, K., Beighley, J. S., Kelly, M., Wallace, A. S., Gerdts, J. A., Eichler, E. E., et al. (2020) · doi:10.21203/rs.3.rs-76658/v1
Rôle du zinc dans la transmission synaptique normale et pathologique
Serraz, B. (2019) · theses.fr (ABES) · doi:10.70675/c9307d17zdbe8z495dz8561z8136a8c5dbb7
Ranking and combining latent structured predictive scores without labeled data
Afshar, S., Chen, Y., Han, S., & Lin, Y. (2024) · IISE Transactions · doi:10.1080/24725854.2024.2417258 · Cited by 1
Ma, K., Webb, M., Newton, S. S., Lee, F. S., & Qin, L. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1864866
Jantheang, T., Kanlayaprasit, S., Songsritaya, K., Panjabud, P., Lertpeerapan, P., Kasitipradit, K., Thongkorn, S., Jindatip, D., Hu, V. W., Saeliw, T., et al. (2026) · Biology of Sex Differences · doi:10.1186/s13293-026-00941-6
Herrera, R. J., & Garcia‐Bertrand, R. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-28919-4.00005-2
Epigenetic Mechanisms of Autism Spectrum Disorders
Yan, Z. (2024) · Springer eBooks · doi:10.1007/978-3-031-32035-4_103-1
Hayot, G. (2020) · theses.fr (ABES) · doi:10.70675/68f97142z0b02z402czaf1az7158eb30dd29
The Autism Palette: Combinations of Impairments Explain the Heterogeneity in ASDPreprint
Fóthi, Á., Lörincz, A., & Soorya, L. V. (2020) · Preprints.org · doi:10.20944/preprints202001.0210.v1
Stankiewicz, P. (2018) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.733081240.793545433
Biederer, T. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.734900260.793555848
Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study
Reale, C., Tessarollo, V., Bulgheroni, S., Annunziata, S., Legati, A., Riva, D., Pantaleoni, C., Garavaglia, B., & D’Arrigo, S. (2021) · Applied Sciences · doi:10.3390/app11178096 · Cited by 2
Costa, C. I. S. (2024) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2024.tde-22082024-180122
Characterisation of neuronal and autism-associated microRNAs through systems-based analysis
Williams, S. (2017) · The University of Queensland · doi:10.14264/uql.2017.438
Muellerleile, J. (2022) · Publication Server of Goethe University Frankfurt am Main (Goethe University Frankfurt) · doi:10.21248/gups.68693
The m6A-mediated epi-transcriptomic dysregulation drives synaptic dysfunction in fragile X syndrome
Lu, L., Sarkar, A. K., Dao, L., Liu, Y., Ma, C., Thwin, P. H., Chang, X., Yoshida, G., Li, A., Wang, C., et al. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03800-3
研究活動報告 : 日本工業所有権法学会レポート : 2005年6月中国武漢出張リポート
石上, 千., 青木, 博., & 劉, 曉. (2005) · Hokkaido University Collection of Scholarly and Academic Papers (Hokkaido University)
Metadata
- Authors
- Iossifov, I., Levy, D., Allen, J., Ye, K., Ronemus, M., Lee, Y.-H., Yamrom, B., & Wigler, M.
- Affiliations
- Cold Spring Harbor Laboratory (US)
- Albert Einstein College of Medicine (US)
- Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724;
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2015-09-23
- Volume
- 112
- Issue
- 41
- Pages
- E5600-7
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC4611648
- OpenAlex
- W1961487924
- Semantic Scholar
- 72f81b98f4b3861f39ce50b51ba3e5ca838b57a4
- Cited by
- 156
- References
- 21
- Citations by year
- 2026: 11 · 2025: 7 · 2024: 13 · 2023: 11 · 2022: 11 · 2021: 18 · 2020: 23 · 2019: 18 · 2018: 16 · 2017: 14 · 2016: 11 · 2015: 2
- FWCI
- 8.52
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- Funders
- SFARI (SF235988, SF362665)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, de novo mutations, mutational load, mother-to-child transmission, fecundity, intelligence quotient, exome sequencing
- MeSH terms
- Autistic Disorder, Child, Child, Preschool, Female, Gene Pool, Humans, Male, Models, Genetic, Mutation, Databases, Genetic, Exome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
A language model drew the claims from the paper on 2026-10-06, under version 3 of the claim definition (model deepseek-v4.1-flash, prompt extract-v3).
A second model labelled each claim on 2026-10-06 (model jev-1.13-20260917, definition revision gold-guideline-v0.2).
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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