Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0102-x.pdf
Reference51 articles.
1. Bijlsma E, Gijsbers A, Schuurs-Hoeijmakers J, et al. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet. 2009;52:77–87.
2. Fedorenko E, Morgan A, Murray E, et al. A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. Eur J Hum Genet. 2016;24:302–6.
3. Rosenfeld J, Coppinger J, Bejjani B, et al. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord. 2010;2:26–38.
4. Shinawi M, Liu P, Kang SHL, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010;47:332–41.
5. Hanson E, Bernier R, Porche K, et al. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol Psychiatry. 2015;77:785–93.
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