Speech, language and communication phenotyping in rare genetic syndromes: Commentary on Speech and language deficits are central to SETBP1 haploinsufficiency disorder
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://www.nature.com/articles/s41431-021-00942-6.pdf
Reference17 articles.
1. Stojanovik V. Genetic syndromes and communication disorders. The handbook of language and speech disorders. eds. Damico JS, Müller N, Ball MJ. 2021. p. 95–109. USA: Wiley-Blackwell.
2. Mefford HC. Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” era. Genet Med. 2009;11:836–42.
3. Stessman HA, Bernier R, Eichler EE. A genotype-first approach to defining the subtypes of a complex disease. Cell. 2014;156:872–7.
4. Chawner SJ, Doherty JL, Anney RJ, Antshel KM, Bearden CE, Bernier R, et al. A genetics-first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants. Am J Psychiatry. 2021;178:77–86.
5. Di Nuovo S, Buono S. Behavioral phenotypes of genetic syndromes with intellectual disability: comparison of adaptive profiles. Psychiatry Res. 2011;189:440–5.
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