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Matthew Edwards

university of washington
H指数:48
被引数:7,167

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Navigating from cellular phenotypic screen to clinical candidate: selective targeting of the NLRP3 inflammasome
2024-12-090
PRE
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
2022-09-014
OAAI
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

使用临床可获得的标本进行RNA诊断的标准化实践重新分类了推定的剪接变体的75%

2022-01-0157
PRE
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020-11-010
PRE
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
2020-10-1550
OAAI
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020-06-23161
OAAI
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
2019-12-0932
OAAI
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation
2018-10-0162
OAAI
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
2018-08-3012
OAAI
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
2017-12-0193
OAAI
A Comprehensive Evaluation of Nasal and Bronchial Cytokines and Chemokines Following Experimental Rhinovirus Infection in Allergic Asthma: Increased Interferons (IFN-γ and IFN-λ) and Type 2 Inflammation (IL-5 and IL-13)
2017-05-01105
OAAI