A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability-Reference-Cited by-同舟云学术

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Published:2020-04-01 Issue:8 Volume:28 Page:1066-1077
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Benson Katherine A.,White Maire,Allen Nicholas M.,Byrne Susan,Carton Robert,Comerford Elizabeth,Costello Daniel,Doherty Colin,Dunleavey Brendan,El-Naggar Hany,Gangadharan Nisha,Heavin Sinéad,Kearney Hugh,Lench Nicholas J.,Lynch John,McCormack Mark,Regan Mary O’,Podesta Karl,Power Kevin,Rogers Anthony S.,Steward Charles A.^ORCID,Sweeney Brian,Webb David^ORCID,Fitzsimons Mary,Greally Marie,Delanty Norman,Cavalleri Gianpiero L.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-020-0610-3.pdf

Reference51 articles.

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3. Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217–21.

4. Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, et al. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur J Hum Genet. 2017;25:669–79.

5. Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, Van Kogelenberg M, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015;385:1305–14.

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