mTOR at the nexus of nutrition, growth, ageing and disease
GY Liu, DM Sabatini - Nature reviews Molecular cell biology, 2020 - nature.com
The mTOR pathway integrates a diverse set of environmental cues, such as growth factor
signals and nutritional status, to direct eukaryotic cell growth. Over the past two and a half …
signals and nutritional status, to direct eukaryotic cell growth. Over the past two and a half …
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology …
Abstract The 2017 International League Against Epilepsy classification has defined a three‐
tier system with epilepsy syndrome identification at the third level. Although a syndrome …
tier system with epilepsy syndrome identification at the third level. Although a syndrome …
The contributions of rare inherited and polygenic risk to ASD in multiplex families
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …
from both de novo and inherited variation. Few studies have been designed to address the …
[HTML][HTML] InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines
In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published updated standards and guidelines for …
Association for Molecular Pathology (AMP) published updated standards and guidelines for …
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …
Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …
Clinical application of whole-exome sequencing across clinical indications
Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …
Developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …