Pharmacogenomics in the era of next generation sequencing – from byte to bedside
Sign Up to like & getrecommendations! Published in 2021 at "Drug Metabolism Reviews"
DOI: 10.1080/03602532.2021.1909613
Abstract: Abstract Pharmacogenetic research has resulted in the identification of a multitude of genetic variants that impact drug response or toxicity. These polymorphisms are mostly common and have been included as actionable information in the labels… read more here.
Keywords: sequencing byte; era next; pharmacogenomics era; next generation ... See more keywords
An Investigation of the Etiologies of Non-Immune Hydrops Fetalis in the Era of Next-Generation Sequence—A Single Center Experience
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13122231
Abstract: (1) Background: Numerous etiologies may lead to non-immune hydrops fetalis (NIHF). However, the causes remain unclear in half of NIHF cases following current standard assessment. The application of prenatal chromosomal microarray analysis (CMA) and exome… read more here.
Keywords: nihf cases; non immune; immune hydrops; era next ... See more keywords
Metabolic Myopathies in the Era of Next-Generation Sequencing
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14050954
Abstract: Metabolic myopathies are rare inherited disorders that deserve more attention from neurologists and pediatricians. Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common diseases are… read more here.
Keywords: era next; metabolic myopathies; myopathies era; next generation ... See more keywords