Back to search

Article

Genotype–phenotype correlations and novel molecular insights into the <i>DHX30</i>-associated neurodevelopmental disorders

2020-09-25

Abstract excerpt

<h4>Background</h4> We aimed to define the clinical and mutational spectrum, and to provide novel molecular insights into DHX30 -associated neurodevelopmental disorder. <h4>Methods</h4> Clinical and genetic data from affected individuals were collected through family support group, GeneMatcher and our network of collaborators. We investigated the impact of novel missense variants with respect to ATPase and helicas...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
9e4eb3ab-c5b8-5297-8836-f2e920378866
DOI
10.1101/2020.09.24.20196097
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Genotype–phenotype correlations and novel molecular insights into the <i>DHX30</i>-associated neurodevelopmental disordersDOI 10.1101/2020.09.24.20196097
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.Semantic proximity
Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms.Semantic proximity
Monoallelic variation in<i>DHX9</i>, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseSemantic proximity
Pathogenic <i>DDX3X</i> mutations impair RNA metabolism and neurogenesis during fetal cortical developmentSemantic proximity
Monoallelic<i>de novo</i>variants in<i>DDX17</i>cause a novel neurodevelopmental disorderSemantic proximity
DHX16-Associated Neuromuscular Oculoauditory Syndrome: A Novel Case.Semantic proximity
<i>De novo</i>and inherited variants in<i>DDX39B</i>cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital HypotoniaSemantic proximity
<i>CHD8</i> haploinsufficiency alters the developmental trajectories of human excitatory and inhibitory neurons linking autism phenotypes with transient cellular defectsSemantic proximity
Systematic comparison of pathogenic variants of the RNA exosome gene <i>EXOSC3/RRP40</i> in <i>Saccharomyces cerevisiae</i> reveals variant-specific functional consequencesSemantic proximity
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.Semantic proximity
Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau Syndrome.Semantic proximity
DEAH-box helicase 37 ( <i>DHX37</i> ) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrumSemantic proximity
Select a neighboring publication to make it the new centre.