Learning, talking and behaviour: what the saved stories say

_This page was written by the computer from 30 findings about “Learning, talking and behaviour”. It rewrites itself every time it reads the stories again, and every claim links back to where it came from._

• Someone reported something new: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp… - A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel de novo splicing variant, c.1496 +”
• Someone reported something new: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy… - A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”
• Someone reported something new: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in … - A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”
• Someone reported something new: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10… - A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”
• Someone reported something new: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND… - A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”
• Someone reported something new: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat… - A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”
• Someone reported something new: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le… - A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions, both novel and previously reported, were significantly enriched for dosage-sensitive genes previously associated with risk for ASD and”
• Someone reported something new: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other … - A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a critical gene for this region.”
• The gene HNF1B shows up in 78 stories together with learning, talking and behaviour - We read 78 stories that talk about both the gene HNF1B and learning, talking and behaviour. That does not prove one causes the other, but they keep showing up together.
• 7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% - A source reports “70%” in the context of neurodevelopment: “7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% of the carriers in our study cohort had a known family history of epilepsy.”
• Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significanc - A source reports “5%” in the context of neurodevelopment: “Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significance, 37 and rare variant associations in autism spectrum disorder (ASD) 22 and schizophrenia (SCZ) 38 have implicated 185 and 32 genes at a fa”
• Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 indiv - A source reports “075 individuals” in the context of neurodevelopment: “Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.”
• At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly - A source reports “3.0%” in the context of neurodevelopment: “At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly.”
• The gene LHX1 shows up in 22 stories together with learning, talking and behaviour - We read 22 stories that talk about both the gene LHX1 and learning, talking and behaviour. That does not prove one causes the other, but they keep showing up together.

The kinds of things we found

• Something new reported: 24
• A number from a study: 4
• Gene + body-part link: 2

What the newest stories say

Someone reported something new: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel de novo splicing variant, c.1496 +”

“Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a…”

_{found in 1 stories · we are 97% sure · updated 2026-11-14 · read it}

Someone reported something new: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”

“This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”

_{found in 1 stories · we are 97% sure · updated 2026-11-14 · read it}

Someone reported something new: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”

“This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”

_{found in 1 stories · we are 97% sure · updated 2026-11-14 · read it}

Someone reported something new: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”

“22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”

_{found in 1 stories · we are 97% sure · updated 2026-11-14 · read it}

Someone reported something new: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”

“Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals…”

_{found in 1 stories · we are 97% sure · updated 2026-11-14 · read it}

Someone reported something new: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”

“Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from…”

_{found in 1 stories · we are 97% sure · updated 2026-11-14 · read it}

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This entry is version 13. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 97% · last updated 2026-11-14 16:44