Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome
Author:
Funder
National Institutes of Health
National Institute of Mental Health
National Institute of Child Health and Human Development
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference10 articles.
1. 16p11.2 deletion syndrome;Chung;Curr Opin Genet Dev,2021
2. Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities;D’Angelo;JAMA Psychiatry,2016
3. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions;Moreno-De-Luca;JAMA Psychiatry,2015
4. Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders;Oetjens;Nat Commun,2019
5. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus;Jacquemont;Nature,2011
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1. Association of behavioural and social–communicative profiles in children with 16p11.2 copy number variants: a multi‐site study;Journal of Intellectual Disability Research;2024-04-24
2. Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders;Heliyon;2023-09
3. 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?;Genes;2023-08-03
4. Wrestling with Social and Behavioral Genomics: Risks, Potential Benefits, and Ethical Responsibility;Hastings Center Report;2023-03
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