@article{5c1f5eef947240f7995c39658995e4ea,
title = "Essential genetic findings in neurodevelopmental disorders",
abstract = "Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a remarkably complex architecture that embraces genetic mutations of distinct types (chromosomal rearrangements, copy number variants, small indels, and nucleotide substitutions) with distinct frequencies in the population (common, rare, de novo). Such a network of interacting players creates difficulties in establishing rigorous genotype-phenotype correlations. Furthermore, individual lifestyles may also contribute to the severity of the symptoms fueling a large spectrum of gene-environment interactions that have a key role on the relationships between genotypes and phenotypes.Herein, a review of the genetic discoveries related to NDDs is presented with the aim to provide useful general information for the medical community.",
keywords = "Brain-related genes, De novo mutations, Deleterious mutations, Gene interaction, Neurodevelopmental disorders, Polymorphisms, Risk alleles",
author = "Cardoso, {Ana R.} and M{\'o}nica Lopes-Marques and Silva, {Raquel M.} and Catarina Serrano and Ant{\'o}nio Amorim and Prata, {Maria J.} and Lu{\'i}sa Azevedo",
note = "Funding Information: This work was financed by FEDER - Fundo Europeu de Desenvolvimento Regional funds through the COMPETE 2020 - Operacional Programme for Competitiveness and Internationalization (POCI), Portugal 2020, and by Portuguese funds through FCT - Funda{\c c}{\~a}o para a Ci{\^e}ncia e a Tecnologia, in the framework of the project POCI-01-0145-FEDER-007274 to i3S and UID/ BIM/04501/2013 and UID/BIM/04501/2019 to iBiMED, as well as by national funds (OE), through FCT, in the scope of the framework contract foreseen in the numbers 4, 5, and 6 of the article 23, of the Decree-Law 57/2016, of August 29, changed by Law 57/2017, of July 19 to RMS, and by FCT research project POCI-01-0145-FEDER-29723. ARC and CS hold FCT PhD fellowships (SFRH/BD/141702/2018-ARC and SFRH/BD/137925/2018-CS). Funders had no role in the design, collection, analysis, interpretation of the data, and writing of the manuscript.",
year = "2019",
month = jul,
day = "9",
doi = "10.1186/s40246-019-0216-4",
language = "English",
volume = "13",
pages = "1--7",
journal = "Human Genomics",
issn = "1473-9542",
publisher = "BioMed Central Ltd.",
number = "1",
}