intellectual disability phenotype
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Mentioned in (46)
Papers in which this entity is mentioned.
- Single cell and spatial alternative splicing analysis with Nanopore long read sequencing. (2025)
- Gastrulation-stage alcohol exposure induces similar rates of craniofacial malformations in male and female C57BL/6J mice. (2024)
- Reduction of APOE accounts for neurobehavioral deficits in fetal alcohol spectrum disorders. (2024)
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
- A global multicohort study to map subcortical brain development and cognition in infancy and early childhood. (2024)
- Adverse childhood experiences in children with fetal alcohol spectrum disorders and their effects on behavior. (2023)
- Spiral drawing deficits in children with prenatal alcohol exposure. (2023)
- Genetic Influences on the Developing Young Brain and Risk for Neuropsychiatric Disorders. (2023)
- mutations, genetic mosaicism and human disease. (2022)
- The effects of gestational choline supplementation on cerebellar Purkinje cell number in the sheep model of binge alcohol exposure during the first trimester-equivalent. (2022)
- Fetal Alcohol Spectrum Disorders: Awareness to Insight in Just 50 Years. (2022)
- Validity and Reliability of Executive Function Measures in Children With Heavy Prenatal Alcohol Exposure: Correspondence Between Multiple Raters and Laboratory Measures. (2021)
- Nanopore sequencing technology, bioinformatics and applications. (2021)
- Prenatal Adversity Alters the Epigenetic Profile of the Prefrontal Cortex: Sexually Dimorphic Effects of Prenatal Alcohol Exposure and Food-Related Stress. (2021)
- Alternative splicing: Human disease and quantitative analysis from high-throughput sequencing. (2021)
- Effects of Prenatal Alcohol Exposure on the Volumes of the Lateral and Medial Walls of the Intraparietal Sulcus. (2021)
- Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
- Best practices for variant calling in clinical sequencing. (2020)
- Kcnn2 blockade reverses learning deficits in a mouse model of fetal alcohol spectrum disorders. (2020)
- Neurodevelopment in adolescents and adults with fetal alcohol spectrum disorders (FASD): A magnetic resonance region of interest analysis. (2020)
- The mutational constraint spectrum quantified from variation in 141,456 humans. (2020)
- The Relationship Between Socioeconomic Status and Brain Volume in Children and Adolescents With Prenatal Alcohol Exposure. (2020)
- Long-term spatial tracking of cells affected by environmental insults. (2020)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
- Structural variant calling: the long and the short of it. (2019)
- Implications of altered maternal cytokine concentrations on infant outcomes in children with prenatal alcohol exposure. (2018)
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. (2017)
- Mapping and phasing of structural variation in patient genomes using nanopore sequencing. (2017)
- Fetal Alcohol Spectrum Disorders: A Case Study. (2017)
- Longitudinal changes in pubertal maturation and white matter microstructure. (2017)
- Prefrontal cortical responses in children with prenatal alcohol-related neurodevelopmental impairment: A functional near-infrared spectroscopy study. (2017)
- New insights into the generation and role of de novo mutations in health and disease. (2016)
- Fetal alcohol spectrum disorders: Clinical phenotype among a high-risk group of children and adolescents in Korea. (2016)
- Plasma miRNA Profiles in Pregnant Women Predict Infant Outcomes following Prenatal Alcohol Exposure. (2016)
- Atypical cortical gyrification in adolescents with histories of heavy prenatal alcohol exposure. (2015)
- Aberrant development of post-movement beta rebound in adolescents and young adults with fetal alcohol spectrum disorders. (2015)
- Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE): Review of Evidence and Guidelines for Assessment. (2015)
- The clinical utility and specificity of parent report of executive function among children with prenatal alcohol exposure. (2014)
- Diminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genome. (2014)
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
- Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
- Adaptive behaviour in children and adolescents with foetal alcohol spectrum disorders: a comparison with specific learning disability and typical development. (2012)
- White matter microstructural alterations in children with prenatal methamphetamine/polydrug exposure. (2012)
- A longitudinal study of the long-term consequences of drinking during pregnancy: heavy in utero alcohol exposure disrupts the normal processes of brain development. (2012)
- Fetal alcohol spectrum disorders: neuropsychological and behavioral features. (2011)
- Mapping white matter integrity and neurobehavioral correlates in children with fetal alcohol spectrum disorders. (2008)
Merged raw entities (7)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| intellectual disability | phenotype | 157 | 292 |
| icd-10 f7 | phenotype | — | — |
| icd-8 311-315 | phenotype | — | — |
| icd-9 317-319 | phenotype | — | — |
| non-familial id | phenotype | — | — |
| non-syndromic intellectual disability | phenotype | — | — |
| syndromic intellectual disability | phenotype | — | — |