Targeted sequencing approach and its clinical applications for the molecular diagnosis of human diseases
The outbreak of COVID-19 has positively impacted the NGS market recently. Targeted
sequencing (TS) has become an important routine technique in both clinical and research …
sequencing (TS) has become an important routine technique in both clinical and research …
Whole-genome sequencing of patients with rare diseases in a national health system
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered …
variants and causative genes for more than half such disorders remain to be discovered …
Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development
R Thompson, S Spendiff, A Roos, PR Bourque… - The Lancet …, 2020 - thelancet.com
Advances in DNA sequencing technologies have resulted in a near doubling, in under 10
years, of the number of causal genes identified for inherited neuromuscular disorders …
years, of the number of causal genes identified for inherited neuromuscular disorders …
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening
infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic …
infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic …
WASP family proteins: Molecular mechanisms and implications in human disease
Abstract Proteins of the Wiskott-Aldrich syndrome protein (WASP) family play a central role
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …
in regulating actin cytoskeletal dynamics in a wide range of cellular processes. Genetic …
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
A Sanchis-Juan, K Megy, J Stephens… - The American Journal of …, 2023 - cell.com
Despite significant progress in unraveling the genetic causes of neurodevelopmental
disorders (NDDs), a substantial proportion of individuals with NDDs remain without a …
disorders (NDDs), a substantial proportion of individuals with NDDs remain without a …
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin …
Purpose A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2
(CYFIP2) gene have recently been described as a novel cause of severe intellectual …
(CYFIP2) gene have recently been described as a novel cause of severe intellectual …
[HTML][HTML] Branching out in different directions: Emerging cellular functions for the Arp2/3 complex and WASP-family actin nucleation factors
KG Campellone, NM Lebek, VL King - European journal of cell biology, 2023 - Elsevier
The actin cytoskeleton impacts practically every function of a eukaryotic cell. Historically, the
best-characterized cytoskeletal activities are in cell morphogenesis, motility, and division …
best-characterized cytoskeletal activities are in cell morphogenesis, motility, and division …
Genomic data sharing for novel mendelian disease gene discovery: the matchmaker exchange
DR Azzariti, A Hamosh - Annual Review of Genomics and …, 2020 - annualreviews.org
In the last decade, exome and/or genome sequencing has become a common test in the
diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this …
diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this …
Rho GTPase regulators and effectors in autism spectrum disorders: animal models and insights for therapeutics
D Guo, X Yang, L Shi - Cells, 2020 - mdpi.com
The Rho family GTPases are small G proteins that act as molecular switches shuttling
between active and inactive forms. Rho GTPases are regulated by two classes of regulatory …
between active and inactive forms. Rho GTPases are regulated by two classes of regulatory …