Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability-Reference-Cited by-同舟云学术

Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability

Published:2022-03-23 Issue:8 Volume:30 Page:938-945
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Brea-Fernández Alejandro J.^ORCID,Álvarez-Barona Miriam,Amigo Jorge^ORCID,Tubío-Fungueiriño María,Caamaño Pilar,Fernández-Prieto Montserrat,Barros Francisco,De Rubeis Silvia^ORCID,Buxbaum Joseph,Carracedo Ángel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01087-w.pdf

Reference50 articles.

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3. Casanova EL, Sharp JL, Chakraborty H, Sumi NS, Casanova MF. Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression. Mol Autism. 2016;7:18.

4. Darvish H, Azcona LJ, Tafakhori A, Mesias R, Ahmadifard A, Sanchez E, et al. Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes. Sci Rep. 2020;10:968.

5. Ellison JW, Rosenfeld JA, Shaffer LG. Genetic basis of intellectual disability. Annu Rev Med. 2013;64:441–50.

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