Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Next generation sequencing methods for diagnosis of epilepsy syndromes
Epilepsy is a neurological disorder characterized by an increased predisposition for
seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses …
seizures. Although this definition suggests that it is a single disorder, epilepsy encompasses …
Genomic medicine for kidney disease
Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
As test costs decline, whole-exome sequencing (WES) has become increasingly used for
clinical diagnosis, and now represents the primary alternative to gene panel testing for …
clinical diagnosis, and now represents the primary alternative to gene panel testing for …
[HTML][HTML] Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies
EJ Ashton, A Legrand, V Benoit, I Roncelin… - Kidney international, 2018 - Elsevier
The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare
and characterized by significant phenotypic variability. Advances in sequencing …
and characterized by significant phenotypic variability. Advances in sequencing …
Whole exome sequencing in neurogenetic odysseys: an effective, cost-and time-saving diagnostic approach
M Córdoba, SA Rodriguez-Quiroga, PA Vega… - PloS one, 2018 - journals.plos.org
Background Diagnostic trajectories for neurogenetic disorders frequently require the use of
considerable time and resources, exposing patients and families to so-called “diagnostic …
considerable time and resources, exposing patients and families to so-called “diagnostic …
Treatable inherited rare movement disorders
There are many rare movement disorders, and new ones are described every year. Because
they are not well recognized, they often go undiagnosed for long periods of time. However …
they are not well recognized, they often go undiagnosed for long periods of time. However …
[HTML][HTML] Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities
Purpose Infants admitted to a level IV neonatal intensive care unit (NICU) who do not survive
early childhood are a population that is probably enriched for rare genetic disease; we …
early childhood are a population that is probably enriched for rare genetic disease; we …
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum …
D Galatolo, A Tessa, A Filla, FM Santorelli - Neurogenetics, 2018 - Springer
One of the hardest challenges in medical genetics is to reach a molecular diagnosis in the
presence of rare brain disorders. Hereditary spinocerebellar ataxia (HA), characterized by …
presence of rare brain disorders. Hereditary spinocerebellar ataxia (HA), characterized by …
[HTML][HTML] Value-based genomics
Advancements in next-generation sequencing have greatly enhanced the development of
biomarker-driven cancer therapies. The affordability and availability of next-generation …
biomarker-driven cancer therapies. The affordability and availability of next-generation …