Genomic imbalances defining novel intellectual disability associated loci-Reference-Cited by-同舟云学术

Genomic imbalances defining novel intellectual disability associated loci

Published:2019-07-05 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Lopes Fátima,Torres Fátima,Soares Gabriela,Barbosa Mafalda,Silva João,Duque Frederico,Rocha Miguel,Sá Joaquim,Oliveira Guiomar,Sá Maria João,Temudo Teresa,Sousa Susana,Marques Carla,Lopes Sofia,Gomes Catarina,Barros Gisela,Jorge Arminda,Rocha Felisbela,Martins Cecília,Mesquita Sandra,Loureiro Susana,Cardoso Elisa Maria,Cálix Maria José,Dias Andreia,Martins Cristina,Mota Céu R.,Antunes Diana,Dupont Juliette,Figueiredo Sara,Figueiroa Sónia,Gama-de-Sousa Susana,Cruz Sara,Sampaio Adriana,Eijk Paul,Weiss Marjan M.,Ylstra Bauke,Rendeiro Paula,Tavares Purificação,Reis-Lima Margarida,Pinto-Basto Jorge,Fortuna Ana Maria,Maciel Patrícia^ORCID

Funder

FEDER Competitiveness Factors Operational Programme

Northern Portugal Regional Operational Programme

Foundation for Science and Technology

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1135-0.pdf

Reference52 articles.

1. Reichenberg A, Cederlöf M, McMillan A, Trzaskowski M, Kapra O, Fruchter E, et al. Discontinuity in the genetic and environmental causes of the intellectual disability spectrum. Proc Natl Acad Sci. 2015;113(4):1098–103.

2. Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet Part C Semin Med Genet. 2012;160 C(2):118–29.

3. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749–64.

4. Mannik K, Magi R, Macé A, Cole B, Guyatt AL, Shihab HA, et al. Copy number variations and cognitive phenotypes in unselected populations. JAMA. 2015;313(20):2044–54.

5. Lopes F, Torres F, Soares G, van Karnebeek CD, Martins C, Antunes D, et al. The role of AKT3 copy number changes in brain abnormalities and neurodevelopmental disorders: four new cases and literature review. Front Genet. 2019;10(February):1–8.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis;Russian Journal of Genetics;2024-05

2. Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries Syndrome;2023-07-08

3. Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids;Genome Biology and Evolution;2023-03-17

4. Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association;Human Genetics;2022-12-05