De novo substitutions of TRPM3 cause intellectual disability and epilepsy-Reference-Cited by-同舟云学术

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

Published:2019-07-05 Issue:10 Volume:27 Page:1611-1618
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Dyment David A.,Terhal Paulien A.,Rustad Cecilie F.^ORCID,Tveten Kristian^ORCID,Griffith Christopher,Jayakar Parul,Shinawi Marwan^ORCID,Ellingwood Sara,Smith Rosemarie,van Gassen Koen,McWalter Kirsty,Innes A. Micheil^ORCID,Lines Matthew A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0462-x.pdf

Reference25 articles.

1. Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, et al. Genomic diagnosis for children with intellectual disability and/or developmental delay. Genome Med. 2017;9:43.

2. Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, et al. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies. Am J Hum Genet. 2017;101:664–85.

3. Martínez F, Caro-Llopis A, Roselló M, Oltra S, Mayo S, Monfort S, et al. High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. J Med Genet. 2016;54:87–92.

4. Clapham DE. TRP channels as cellular sensors. Nature. 2003;426:517–24.

5. Nilius B. TRP channels in disease. Biochim Biophys Acta. 2007;1772:805–12.

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