| People | Locations | Statistics |
|---|---|---|
| Naji, M. |
| |
| Motta, Antonella |
| |
| Aletan, Dirar |
| |
| Mohamed, Tarek |
| |
| Ertürk, Emre |
| |
| Taccardi, Nicola |
| |
| Kononenko, Denys |
| |
| Petrov, R. H. | Madrid |
|
| Alshaaer, Mazen | Brussels |
|
| Bih, L. |
| |
| Casati, R. |
| |
| Muller, Hermance |
| |
| Kočí, Jan | Prague |
|
| Šuljagić, Marija |
| |
| Kalteremidou, Kalliopi-Artemi | Brussels |
|
| Azam, Siraj |
| |
| Ospanova, Alyiya |
| |
| Blanpain, Bart |
| |
| Ali, M. A. |
| |
| Popa, V. |
| |
| Rančić, M. |
| |
| Ollier, Nadège |
| |
| Azevedo, Nuno Monteiro |
| |
| Landes, Michael |
| |
| Rignanese, Gian-Marco |
|
Zhang, Jing
King's College London
in Cooperation with on an Cooperation-Score of 37%
Topics
Publications (11/11 displayed)
- 2024A Scalable Microfluidic Platform for Nanoparticle Formulation:For Exploratory- and Industrial-Level Scalescitations
- 2023Evaluating the clinical validity of genes related to hemostasis and thrombosis using the ClinGen gene curation frameworkcitations
- 2021Conventional Glass-ionomer Cements: A Guide for Practitionerscitations
- 2021Investigation of electrical properties of peald-deposited Ti/Al<sub>2</sub>O<sub>3</sub>/Al/Si MIM capacitorscitations
- 2021Super-resolved optical mapping of reactive sulfur-vacancy in 2D transition metal dichalcogenidescitations
- 2019In vitro compressive strength and edge stability testing of directly repaired glass-ionomer cementscitations
- 2018In-vitro subsurface remineralisation of artificial enamel white spot lesions pre-treated with chitosan
- 2018Remineralisation of enamel white spot lesions pre-treated with chitosan in the presence of salivary pelliclecitations
- 2016Efficient hydrogen evolution in transition metal dichalcogenides via a simple one-step hydrazine reactioncitations
- 2009Complexity of shear localization in a Zr-based bulk metallic glasscitations
- 2007Structural and Morphological Characterization of Cerium Oxide Nanocrystals Prepared by Hydrothermal Synthesiscitations
Places of action
| Organizations | Location | People |
|---|
article
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the ClinGen gene curation framework
Abstract
Background: Inherited bleeding, thrombotic, and platelet disorders (BTPDs) are a heterogeneous set ofdiseases, many of which are globally very rare. Over the past five decades, the genetic basis ofsome of these disorders has been identified, and recently, high-throughput sequencing hasbecome the primary means of identifying disease-causing genetic variants.<br/><br/>Objectives: Knowledge of the clinical validity of a gene-disease relationship is essential to both providing anaccurate diagnosis based on results of diagnostic gene panel tests and informing theconstruction of such panels. The Scientific and Standardization Committee for Genetics inThrombosis and Haemostasis undertook a curation process for selecting 96 TIER1 genes forBTPDs. The purpose was to evaluate the evidence supporting each gene-disease relationshipand provide an expert-reviewed classification for the clinical validity of genes associated withBTPDs. Methods The ClinGen Hemostasis/Thrombosis Gene Curation Expert Panel (HT GCEP) assessed thestrength of evidence for TIER1 genes using the semi-quantitative ClinGen gene disease clinicalvalidity framework. ClinGen lumping and splitting guidelines were used to determine theappropriate disease entity, or entities, for each gene and 101 gene-disease relationships wereidentified for curation. <br/><br/>Results: The final outcome included 68 Definitive (67%), 26 Moderate (26%), and seven Limited (7%)classifications. The summary of each curation is available on the ClinGen website. <br/><br/>Conclusions: Expert-reviewed assignment of gene-disease relationships by the HT GCEP facilitates accuratemolecular diagnoses for BTPDs by clinicians and diagnostic laboratories. These curation effortscan allow genetic testing to focus on genes with a validated role in disease.<br/>