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Timely diagnosis of Wilson's disease using whole exome sequencing
(Elsevier, 2015-11)
Wilson's disease (WD) is a rare inborn error of copper metabolism caused by mutations in ATP7B gene. Although there is no genetic heterogeneity in WD etiology, the widespread clinical presentation of WD makes its diagnosis ...
A latent genetic subtype of major depression identified by whole-exome genotyping data in a Mexican-American cohort
(2017)
Identifying data-driven subtypes of major depressive disorder (MDD) is an important topic of psychiatric research. Currently, MDD subtypes are based on clinically defined depression symptom patterns. Although a few data-driven ...
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.
(2022)
Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and ...
Diagnóstico genético de duas famílias com casos de Acidose tubularrenal distal por meio de Whole-Exome Sequencing
(Universidade Federal de Minas GeraisUFMG, 2014-01-10)
renal tubular acidosis (RTA) or distal ATR type 1 comprises a heterogeneous group of disorders arising from dysfunction of the distal tubules, which can lead to a growth deficit, nephrocalcinosis, rickets and rarely chronic ...
Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort
(Pergamon-Elsevier Science Ltd, 2018-12)
Dystrophinopathies are neuromuscular X-linked recessive diseases caused by mutations in the DMD gene. This study aimed to identify DMD gene small mutations by Whole Exome Sequencing (WES), in order to confirm clinical ...
Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Objectives: To rescue medical genetics concepts that are necessary to understand the advances
in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation ...
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome
(2022)
Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and ...
A global reference for human genetic variation
(Springer Nature, 2015)
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report ...