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
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“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
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“(1 and 2) genes from SFARI Gene database; vulnerable ASD genes (105);”
Heritability of autism spectrum disorders: a meta-analysis of twin studies
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“There is evidence for the contribution of both common variants and rare mutations (Gaugler et al., 2014; Iossifov et al., 2015) and at this point it is simply not possible to definitively decide on one model over the other.”
BackgroundHippocampal GABAergic Inhibitory Interneurons
Pelkey, K. A., Chittajallu, R., Craig, M. T., Tricoire, L., Wester, J. C., & McBain, C. J. (2017) · Physiological Reviews · doi:10.1152/physrev.00007.2017 · Cited by 889
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“Variants in these genes are not under negative selective pressure and are frequently transmitted in families for generations [2,14].”
BackgroundEmerging Roles for the Gut Microbiome in Autism Spectrum Disorder
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“It is estimated that the de novo mutations, common variants, and short nucleotide polymorphisms identified across numerous ASD cases altogether account for approximately 50% of the disorder (14,15).”
BackgroundStessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics · doi:10.1038/ng.3792 · Cited by 559
“Of interest are the 13 genes without DN mutation significance (SMARCC2, CTNND2, SIN3A, SCN1A, NFIA, CDKL5, DNAJC6, IQSEC2, IQGAP3, ADGRL2, ERBIN, NAV2, and AGPA2; Table 2) suggesting potential inherited risk factors 13,31,52 .”
New insights into the generation and role of de novo mutations in health and disease
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“For these milder phenotypes that have less impact on fitness, the exact contribution of de novo mutations to the disease burden is not yet firmly established, and inherited variation is likely to be at least as important in the expression of the phenotype [120–122].”
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ResultA comprehensive transcriptional map of primate brain development
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“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) Thus, a portion of the genetic architecture consists of rare coding variants with incomplete penetrance that are inherited fromparentswho do notm…”
BackgroundPaternally inherited cis-regulatory structural variants are associated with autism
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“Four missense variations (R212C, R902W, W962C and A1874V) were identified in a study of 461 probands with ASD and 480 ethnically matched individuals by targeted sequencing of the CACNA1H genomic region [254,255].”
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“However, the de novo mutations, common variants, and short nucleotide polymorphisms identified across numerous ASD cases altogether only account for approximately 50% of the cases.(5,6) As such, many studies highlight the possibility of environmental risk factors and associated medical co-morbidities that may contribu…”
BackgroundThe Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
Turner, T. N., & Eichler, E. E. (2018) · Trends in Neurosciences · doi:10.1016/j.tins.2018.11.002 · Cited by 74
TBR1 regulates autism risk genes in the developing neocortex
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“www.genome.org A recent study showed that LoF variants in KATNAL2 were passed from an unaffected mother to their unaffected male child, reinforcing this point (Iossifov et al. 2015).”
BackgroundDamaging de novo mutations diminish motor skills in children on the autism spectrum
Buja, A., Volfovsky, N., Krieger, A. M., Lord, C., Lash, A. E., Wigler, M., & Iossifov, I. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1715427115 · Cited by 64
“Nevertheless, in a previous study we still found that affected children in the SSC with dn LGDs in highly vulnerable genes had significantly lower IQ than in affected children with LGDs in less vulnerable genes (7).”
Self-citationGuo, D., Yang, X., & Shi, L. (2020) · Cells · doi:10.3390/cells9040835 · Cited by 73
Prediction of response to drug therapy in psychiatric disorders
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Dendritic spine actin cytoskeleton in autism spectrum disorder
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Increased burden of deleterious variants in essential genes in autism spectrum disorder
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“Several groups reported an enrichment of de novo and rare inherited single-nucleotide loss-of-function variants in ASD probands (8, 26), although there is a depletion of damaging mutations in ASD risk genes in population controls (12, 27, 28).”
BackgroundResultKinzina, E., Podolskiy, D. I., Dmitriev, S. E., & Gladyshev, V. N. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.11.091 · Cited by 57
Lin, Y., Afshar, S., Rajadhyaksha, A. M., Potash, J. B., & Han, S. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.500064 · Cited by 61
“In addition to having functional relationships, ASD genes affected by de novo mutations tend to be intolerant of variations (Samocha et al., 2014; Iossifov et al., 2015).”
BackgroundGozes, I., Patterson, M. C., Dijck, A. V., Kooy, R. F., Peeden, J., Eichenberger, J. A., Zawacki-Downing, A., & Bedrosian‐Sermone, S. (2017) · Frontiers in Endocrinology · doi:10.3389/fendo.2017.00107 · Cited by 50
A systematic variant annotation approach for ranking genes associated with autism spectrum disorders
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“corresponding posterior probabilities [23] (Fig.”
ResultLeveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders
Searles, V. B., Wang, B., & State, M. W. (2020) · Neuropsychopharmacology · doi:10.1038/s41386-020-0768-y · Cited by 53
Rates of contributory de novo mutation in high and low-risk autism families
Yoon, S. C., Muñoz, A., Yamrom, B., Lee, Y.-H., Andrews, P., Marks, S., Wang, Z., Reeves, C., Winterkorn, L. H., Krieger, A. Μ., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02533-z · Cited by 44
Self-citationThe Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability
Chaste, P., Roeder, K., & Devlin, B. (2017) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022647 · Cited by 54
“Still, given the results from analysis of data from WES and from microarrays for CNV detection, some have concluded that de novo variation, possibly then inherited for a few generations, is the fundamental genetic driver of ASD liability (67, 68, 116).”
BackgroundThe chemistry of gut microbiome in health and diseases
Lau, A., Tan, L. T., Mutalib, N. A., Wong, S. H., Letchumanan, V., & Lee, L. (2021) · Progress In Microbes & Molecular Biology · doi:10.36877/pmmb.a0000175 · Cited by 55
“The exact cause of autism spectrum disorder is still unknown despite strong genetic evidence([231,232])and environmental factors.”
BackgroundMunz, M., Bharioke, A., Kosche, G., Moreno‐Juan, V., Brignall, A. C., Rodrigues, T. M., Graff-Meyer, A., Ulmer, T., Haeuselmann, S., Pavlinić, D., et al. (2023) · Cell · doi:10.1016/j.cell.2023.03.025 · Cited by 52
Chau, K. K., Zhang, P., Urresti, J., Amar, M., Pramod, A. B., Chen, J., Thomas, A. E., Corominas, R., Lin, G. N., & Iakoucheva, L. M. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.109631 · Cited by 42
“For example, two LoF-affected isoforms of KMT2C histone lysine methyltransferase, a high-confidence ASD risk gene (De Rubeis et al., 2014; Iossifov et al., 2015; O’Roak et al., 2011) were highly expressed prenatally and had opposing temporal trajectories compared with non-affected isoforms that…”
Gupta, C., Chandrashekar, P. B., Jin, T., He, C., Khullar, S., Chang, Q., & Wang, D. (2022) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-022-09438-w · Cited by 66
“Furthermore, IDDs may involve changes in multiple genes, each conferring a small risk, and hundreds of autism risk genes have been cataloged through genomic assays [52–55].”
BackgroundBrown, E., Lautz, J. D., Davis, T. R., Gniffke, E. P., VanSchoiack, A., Neier, S. C., Tashbook, N., Nicolini, C., Fahnestock, M. L., Schrum, A. G., et al. (2018) · Molecular Autism · doi:10.1186/s13229-018-0229-1 · Cited by 42
The link between autism spectrum disorder and gut microbiota: A scoping review
Nitschke, A. S., Deonandan, R., & Konkle, A. T. M. (2020) · Autism · doi:10.1177/1362361320913364 · Cited by 46
“It is estimated that de novo mutations, common variants, and single nucleotide polymorphisms are overall responsible for approximately 50% of the disorder (Gaugler et al., 2014; Iossifov et al., 2015).”
BackgroundStructural insights into the human NuA4/TIP60 acetyltransferase and chromatin remodeling complex
Yang, Z., Mameri, A., Cattoglio, C., Lachance, C., Ariza, A. J. F., Luo, J., Humbert, J., Sudarshan, D., Banerjea, A., Galloy, M., et al. (2024) · Science · doi:10.1126/science.adl5816 · Cited by 46
Unified inference of missense variant effects and gene constraints in the human genome
Huang, Y.-F. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008922 · Cited by 32
Zhao, G., Walsh, K., Long, J., Gui, W., & Denisova, K. (2018) · PLoS ONE · doi:10.1371/journal.pone.0196964 · Cited by 34
Rhine, C. L., Neil, C. R., Wang, J., Maguire, S., Buerer, L., Salomon, M., Meremikwu, I. C., Kim, J. E., Strande, N. T., & Fairbrother, W. G. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1009884 · Cited by 30
Thongkorn, S., Kanlayaprasit, S., Kasitipradit, K., Lertpeerapan, P., Panjabud, P., Hu, V. W., Jindatip, D., & Sarachana, T. (2023) · Biology of Sex Differences · doi:10.1186/s13293-023-00496-w · Cited by 33
Non-complicit: Revisiting Hans Asperger’s Career in Nazi-era Vienna
Falk, D. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-019-03981-7 · Cited by 30
Southwell, D. G., Seifikar, H., Malik, R., Lavi, K., Vogt, D. L., Rubenstein, J. L. R., & Sohal, V. S. (2020) · Journal of Neuroscience · doi:10.1523/jneurosci.1063-19.2019 · Cited by 24
“1-Cre; Pten conditional knock-out mice (hereafter also referred to as “Pten mice”), disruption of Pten, a phosphatase implicated in human ASD (Roak et al., 2012; De Rubeis et al., 2014; Iossifov et al., 2015; Geisheker et al., 2017), alters the subtype composition of interneurons derived from the medial ganglionic emi…”
BackgroundMethodInfluentialSchmeißer, K., Fardghassemi, Y., & Parker, J. A. (2017) · Experimental Neurology · doi:10.1016/j.expneurol.2017.03.022 · Cited by 23
“Its human orthologue, GRIN2B, has been strongly associated with ASD and other neurological disorders (Iossifov et al., 2015; Myers et al., 2011; O'Roak et al., 2011; Yoo et al., 2012).”
Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric DisordersPreprint
Andrade, A., Brennecke, A., Mallat, S., et al. (2019) · Preprints.org · doi:10.20944/preprints201906.0192.v1 · Cited by 27
Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor sema 3A
Creighton, B. A., Afriyie, S., Ajit, D., Casingal, C. R., Voos, K. M., Reger, J., Burch, A. M., Dyne, E. D., Bay, J., Huang, J. K., et al. (2021) · eLife · doi:10.7554/elife.69815 · Cited by 23
A Whole-Exome Sequencing Study of Tourette Disorder in a Chinese Population
Zhao, X., Wang, S., Hao, J., Zhu, P., Zhang, X., & Wu, M. (2019) · DNA and Cell Biology · doi:10.1089/dna.2019.4746 · Cited by 21
“For example, Iossifov et al. showed that LGD variants occur at significantly higher rates in ASD probands compared to their unaffected siblings (Iossifov et al. , 2014, 2015).”
Pizzo, L., Lasser, M. C., Yusuff, T., Jensen, M., Ingraham, P., Huber, E., Singh, M. D., Monahan, C., Iyer, J. S., Desai, I., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009112 · Cited by 25
“2 genes were enriched for genes intolerant to functional variation (Fig 7E and 7G), such 499 as ASH1L, a histone methyltransferase activator and autism candidate gene (75), and CAMK2B, a 500”
BackgroundStrain differences in behaviour and immunity in aged mice: Relevance to Autism
O’Connor, R., van de Wouw, M., Moloney, G. M., Ventura‐Silva, A. P., O’Riordan, K. J., Golubeva, A. V., Dinan, T. G., Schellekens, H., & Cryan, J. F. (2020) · Behavioural Brain Research · doi:10.1016/j.bbr.2020.113020 · Cited by 25
Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism
Hudac, C. M., Stessman, H. A. F., DesChamps, T. D., Kresse, A., Faja, S., Neuhaus, E., Webb, S. J., Eichler, E. E., & Bernier, R. (2017) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-017-9199-4 · Cited by 23
“Although this study is limited by a small sample size and thus should be considered exploratory, the analysis of neural social phenotypes based on functional clustering offers a promising approach for narrowing in on convergent pathways that may reflect shared phenotypes and provide insight for targeted treatment [5,…”
BackgroundMethodInfluentialBio-collections in autism research
Reilly, J., Gallagher, L., Chen, J. L., Leader, G., & Shen, S. (2017) · Molecular Autism · doi:10.1186/s13229-017-0154-8 · Cited by 23
Meili, F., Wei, W., Sin, W., Meyers, W. M., Dascalu, I., Callaghan, D. B., Rogić, S., Pavlidis, P., & Haas, K. Z. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.11.011 · Cited by 23
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum DisorderPreprint
Krupp, D. R., Barnard, R., Duffourd, Y., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/083428 · Cited by 23
“Moreover, we found missense PMMs in some of the highest-confidence ASD risk genes identified in the SSC or other combined studies, for example: CHD2, CTNNB1, KMT2C, SCN2A, and SYNGAP1 (Table 4).(30,32,33,67) Interestingly, small de novo deletions targeting CHD2, SYNGAP1, CTNNB1, and KMT2C have been reported in the SSC…”
BackgroundInfluentialGenetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome
Codina‐Solà, M., Costa‐Roger, M., Pérez-García, D., Flores, R., Palacios-Verdú, M. G., Cuscó, I., & Jurado, L. A. P. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106080 · Cited by 22
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
Seabra, C. M., Aneichyk, T., Erdin, S., Tai, D. J. C., de Esch, C. E. F., Razaz, P., An, Y., Manavalan, P., Ragavendran, A., Stortchevoi, A., et al. (2020) · Molecular Autism · doi:10.1186/s13229-020-00354-1 · Cited by 20
Jaini, R., Wolf, M. R., Yu, Q., King, A. T., Frazier, T. W., & Eng, C. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01472-x · Cited by 21
Ritchie, F. D., & Lizarraga, S. B. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.989109 · Cited by 22
Enhanced LTP of population spikes in the dentate gyrus of mice haploinsufficient for neurobeachin
Muellerleile, J., Blistein, A., Rohlmann, A., Scheiwe, F., Missler, M., Schwarzacher, S. W., & Jedlička, P. (2020) · Scientific Reports · doi:10.1038/s41598-020-72925-4 · Cited by 18
Guerreiro, S. R., & Maciel, P. (2023) · Cells · doi:10.3390/cells12040538 · Cited by 20
“Mutations in one of these genes are rare but are associated with high disease risk and penetrance, likely inducing a disease phenotype even in the absence of additional mutations and therefore leading to monogenic NDDs; often resulting from de novo mutational events, they are therefore associated with sporadic cases o…”
BackgroundBeversdorf, D. Q., Shah, A., Jhin, A., Noel‐MacDonnell, J., Hecht, P. M., Ferguson, B. J., Bruce, D., Tilley, M. R., & Talebizadeh, Z. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2021.668577 · Cited by 19
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
Viggiano, M., D’Andrea, T., Cameli, C., Posar, A., Visconti, P., Scaduto, M. C., Colucci, R., Rochat, M. J., Ceroni, F., Milazzo, G., et al. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.858238 · Cited by 15
Tang, W., Beckley, J. T., Zhang, J., Song, R., Xu, Y., Kim, S., Quirk, M. C., Robichaud, A. J., Diaz, E. S., Myers, S. J., et al. (2023) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-022-04667-7 · Cited by 17
Recent ultra-rare inherited mutations identify novel autism candidate risk genesPreprint
Wilfert, A. B., Turner, T. N., Murali, S. C., Hsieh, P., Sulovari, A., Wang, T., Coe, B. P., Guo, H., Hoekzema, K., Bakken, T. E., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.10.932327 · Cited by 14
“This estimate is in line with other 5 studies (3, 26) and suggests that this understudied class of mutation may confer almost as much risk as de novo SNVs and indels (6-9% of cases using the same population attributable risk estimator)(2, 3).”
MethodResultIntegrating genomic and resting State fMRI for efficient autism spectrum disorder classification
Lu, P., Li, X., Hu, L., & Lu, L. J. (2021) · Multimedia Tools and Applications · doi:10.1007/s11042-020-10473-9 · Cited by 17
Neuronal knockdown of Cullin3 as a Drosophila model of autism spectrum disorder
Tener, S. J., Lin, Z., Park, S. J., Oraedu, K., Ulgherait, M., van Beek, E., Martínez-Muñiz, A., Pantalia, M., Gatto, J. A., Volpi, J., et al. (2024) · Scientific Reports · doi:10.1038/s41598-024-51657-9 · Cited by 14
Neurodevelopmental functions of CHD8: new insights and questions
Basson, M. A. (2024) · Biochemical Society Transactions · doi:10.1042/bst20220926 · Cited by 18
Jiménez-Romero, M. S., Salas, P. C., & Benítez‐Burraco, A. (2018) · Molecular Syndromology · doi:10.1159/000485638 · Cited by 14
“We found that MED13L is a candidate for ASD [Iossifov et al., 2012, 2014, 2015], a condition characterized by a distinctive abnormal language profile [for review, see Benítez-Burraco and Murphy, 2016].”
BackgroundThiffault, I., Cadieux‐Dion, M., Farrow, E., Caylor, R. C., Miller, N., Soden, S. E., & Saunders, C. (2018) · Human Mutation · doi:10.1002/humu.23646 · Cited by 13
Mehinovic, E., Gray, T., Campbell, M. C., Ekholm, J. M., Wenger, A. M., Rowell, W. J., Grudo, A., Grimwood, J., Korlach, J., Gurnett, C. A., et al. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62743 · Cited by 14
“Several other types of rare genetic variants have been implicated in autism including rare inherited variants (Iossifov et al., 2015; Krumm et al., 2015; Wilfert et al., 2021), recessive variants (Doan et al.”
BackgroundHuang, H., Cheng, S., Ding, M., Wen, Y. F., Ma, M., Zhang, L., Li, P., Cheng, B., Liang, X., Liu, L., et al. (2018) · Autism Research · doi:10.1002/aur.2048 · Cited by 14
“suggested that ANK2 was a strong candidate risk gene to ASD [Iossifov et al., 2015].”
BackgroundAnkyrin B promotes developmental spine regulation in the mouse prefrontal cortex
Murphy, K. E., Duncan, B. W., Sperringer, J. E., Zhang, E. Y., Haberman, V. A., Wyatt, E. V., & Maness, P. F. (2023) · Cerebral Cortex · doi:10.1093/cercor/bhad311 · Cited by 12
The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism
Hunt, A., & Jaeggi, A. V. (2025) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1111/brv.70010 · Cited by 15
Rethinking the fast-slow continuum of individual differencesPreprint
Giudice, M. D. (2019) · doi:10.31234/osf.io/4uhz8 · Cited by 92
“This distinction is consistent with the genetic evidence on the role of mutations in autism (Gardner et al., 2019; Iossifov et al., 2014, 2015; Ronemus et al., 2014), and is supported by convergent epidemiological data on paternal/maternal age, socioeconomic status, and so forth (details in Del…”
ResultCornejo, K. G., Venegas, A., Sono, M. H., Door, M., Gutierrez-Ruiz, B., Karabedian, L. B., Nandi, S. G., Hadisurya, M., Tao, W. A., Dykhuizen, E. C., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114877 · Cited by 19
Neurobiology of cognitive abilities in early childhood autism
Denisova, K. (2024) · JCPP Advances · doi:10.1002/jcv2.12214 · Cited by 14
“(Note, GABRB3 was identified by Iossifov and colleagues (Iossifov et al., 2015) to have a low LGD (likely gene disruptive) score of 0.08 ( < 0.1) (scores range between 0 and 1), indicating that a DN mutation on that gene is particularly likely; GABRB2 hasanLGDscoreof0.”
BackgroundInfluentialJURNAK, F. A. (2015) · Nutrition and Metabolic Insights · doi:10.4137/nmi.s29531 · Cited by 10
Enrichment of factors regulating canonical Wnt signaling among autism risk genes
Packer, A. I. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.228 · Cited by 9
Failure to attune to language predicts autism in high risk infants
Denisova, K. (2019) · Brain and Language · doi:10.1016/j.bandl.2019.04.002 · Cited by 9
“Guilt by association” is not competitive with genetic association for identifying autism risk genes
Gunning, M., & Pavlidis, P. (2021) · Scientific Reports · doi:10.1038/s41598-021-95321-y · Cited by 11
Measuring shared variants in cohorts of discordant siblings with applications to autism
Ye, K. Q., Iossifov, I. H., Levy, D., Yamrom, B., Buja, A., Krieger, A. Μ., & Wigler, M. H. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1700439114 · Cited by 10
“This hypothesis has statistical support from two recent analyses of the SSC (9, 10).”
BackgroundResultSelf-citationLin, Y., Rajadhyaksha, A. M., Potash, J. B., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/463547 · Cited by 10
Chen, L., Wang, W., Cai, W., Song, W., Qian, W., & Lin, G. N. (2021) · Scientific Reports · doi:10.1038/s41598-021-87632-x · Cited by 9
Developmental Gene Expression Differences between Humans and Mammalian ModelsPreprint
Cardoso-Moreira, M., Sarropoulos, I., Velten, B., et al. (2019) · bioRxiv · doi:10.1101/747782 · Cited by 76
“We also performed the analysis of genes associated with autism spectrum disorders using a larger dataset of autism associated genes (164 with dynamic temporal profiles out of 233; Iossifov et al., 2015) and obtained the same result (i.”
ResultPrediction of Response to Drug Therapy in Psychiatric Disorders
Stern, S., Linker, S. B., Vadodaria, K. C., Marchetto, M. C., & Gage, F. H. (2019) · FOCUS The Journal of Lifelong Learning in Psychiatry · doi:10.1176/appi.focus.17304 · Cited by 8
Zhang, P., Omanska, A., Ander, B. P., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.03.29.486259 · Cited by 8
“99 as reported by 378 the Exome Aggregation Consortium (28), mutationally constrained genes(27), vulnerable ASD 379 genes(79), CHD8 targets(29), FMRP targets (80), syndromic and highly ranked (1 and 2) genes 380 from SFARI Gene database.”
BackgroundThe Unique Evolutionary Signature of Genes Associated with Autism Spectrum Disorder
Tsur, E., Friger, M. D., & Menashe, I. (2016) · Behavior Genetics · doi:10.1007/s10519-016-9804-4 · Cited by 8
“During the past decade, genetic studies have suggested hundreds of ASDsusceptibility genes, but only a few of these genes have been robustly associated with the disorder (Abrahams et al. 2013; Iossifov et al. 2015; Sanders et al. 2015) and mutations in these genes can explain ASD in only a portion of affected individu…”
Background
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
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