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Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families
(Public Library of Science (PLoS), 2022-01-27)
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 ...
Exome sequencing of multiple-sclerosis patients and their unaffected first-degree relatives
(BioMed Central, 2017)
Abstract
Objectives
The understanding of complex multifactorial diseases requires the availability of a variety of data for a large-number of affected individuals. In this ...
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 ...
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 ...
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 ...
Identification of predisposition genes involved in thyroid and breast carcinomas in patients with family history of these tumors by whole exome sequencing
(Amer Assoc Cancer Research, 2015-08-01)
Tracking genomic alterations in young patients with head and neck carcinomas using whole-exome sequencing
(Amer Assoc Cancer Research, 2015-08-01)
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 ...