Valentin Ruault
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View article: ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format
ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format Open
Genomic medicine relies on precise phenotyping and global data sharing, particularly in the context of rare diseases. However, exchanging medical reports across language barriers remains a major challenge. Manual annotation with the Human …
View article: <i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
<i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current Open
The Na + leak channel NALCN regulates the resting membrane potential and consequently cell excitability of several cell types, including neurons. Studies of animal models demonstrated that NALCN is involved in fundamental physiological fun…
View article: AUTS2-related syndrome: Insights from a large European cohort
AUTS2-related syndrome: Insights from a large European cohort Open
View article: Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity, leads to neurodevelopmental disorder and obesity.
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity, leads to neurodevelopmental disorder and obesity. Open
RNA-binding proteins play a key role in post-transcriptional events, such as mRNA splicing, transport, stability, translation and decay. Dysregulation of RNA life can have dramatic consequences. CELF RNA-binding proteins appear to be essen…
View article: P828: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome
P828: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: Novel findings of DDX3X syndrome Open
GenIDA is an international participatory registry (https://genida.unistra.fr/) aimed at better characterizing the clinical manifestations and natural history of genetic forms of intellectual disability (ID) with or without autism spectrum …
View article: Lessons from two series by physicians and caregivers' self‐reported data in <i>DDX3X</i>‐related disorders
Lessons from two series by physicians and caregivers' self‐reported data in <i>DDX3X</i>‐related disorders Open
Introduction and Methods We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. Results These two series include several symptoms in common, with fairly sim…
View article: Growth charts in <scp>DYRK1A</scp> syndrome
Growth charts in <span>DYRK1A</span> syndrome Open
DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restr…
View article: Assessing feasibility and risk to translate, de-identify and summarize medical reports using deep learning
Assessing feasibility and risk to translate, de-identify and summarize medical reports using deep learning Open
Background Precision medicine requires accurate phenotyping and data sharing, particularly for rare diseases. However, sharing medical reports across language barriers is challenging. Alternatively, inconsistent and incomplete clinical sum…
View article: Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders
Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders Open
We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These two series include several symptoms in common, with fairly similar distribution, which suggests…
View article: O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome
O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome Open
View article: Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective Open
View article: Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis
Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis Open
Objective Osteoarthritis (OA) is the most common joint disease worldwide. The etiology of OA is varied, ranging from multifactorial to environmental to monogenic. In a condition called early‐onset OA, OA occurs at an earlier age than is ty…
View article: Role of the Tide on the Structure of the Amazon Plume: A Numerical Modeling Approach
Role of the Tide on the Structure of the Amazon Plume: A Numerical Modeling Approach Open
The dynamical balance on the Amazon shelf and its implication on the properties of the Amazon River plume is not fully understood and poorly represented in global‐ and basin‐scale ocean models. In this study, the sensitivity of the Amazon …
View article: Growth charts in Kabuki syndrome 1
Growth charts in Kabuki syndrome 1 Open
Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A . KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently repo…
View article: Modélisation hydro-sédimentaire du lac de Guerlédan
Modélisation hydro-sédimentaire du lac de Guerlédan Open
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