Alain Verloès
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View article: Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review Open
Background Data on clinical manifestations of neurofibromatosis-Noonan syndrome (NF-NS) remain heterogeneous, with limited validated descriptions. Methods This study aims to better define the clinical and molecular features of NF-NS and co…
View article: De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder
De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder Open
Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo variants in KDM2A , a lysine demethylase crucial for embryonic dev…
View article: Further phenotypical delineation of DLG3-related neurodevelopmental disorders
Further phenotypical delineation of DLG3-related neurodevelopmental disorders Open
SAP102, a member of the membrane-associated guanylate kinase proteins family, is a scaffolding protein encoded by the DLG3 gene whose hemizygous variants with loss-of-function effect are associated with X-linked Intellectual developmental …
View article: Genomic and biological panoramas of non-muscle actinopathies
Genomic and biological panoramas of non-muscle actinopathies Open
Background Cytoskeletal non-muscle actin isoforms are the most abundant intracellular proteins and extensively interact with other molecules. Biological consequences and genotype-phenotype correlations of the variants in genes encoding the…
View article: Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee Open
The International Rare Diseases Research Consortium (IRDiRC) Diagnostic Scientific Committee (DSC) is charged with discussion and contribution to progress on diagnostic aspects of the IRDiRC core mission. Specifically, IRDiRC goals include…
View article: Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 <scp><i>HRAS</i></scp>‐positive variant patients
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 <span><i>HRAS</i></span>‐positive variant patients Open
Background Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. Objectives To describe the dermatological manifestations of CS; compare them with the literature findings; a…
View article: Cerebral dural arteriovenous fistulas in patients with <scp> <i>PTEN</i> </scp> ‐related hamartoma tumor syndrome
Cerebral dural arteriovenous fistulas in patients with <span> <i>PTEN</i> </span> ‐related hamartoma tumor syndrome Open
Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN ‐related hamartoma tumor syndrome (PHTS). However, PHTS‐associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we stud…
View article: Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder Open
Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We pr…
View article: <scp><i>PACS2</i></scp> pathogenic variant associated with malformation of cortical development and epilepsy
<span><i>PACS2</i></span> pathogenic variant associated with malformation of cortical development and epilepsy Open
PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. However, no malformation of cortical developm…
View article: Together4RD position statement on collaboration between European reference networks and industry
Together4RD position statement on collaboration between European reference networks and industry Open
Notwithstanding two decades of policy and legislation in Europe, aimed to foster research and development in rare conditions, only 5–6% of rare diseases have dedicated treatments. Given with the huge number of conditions classed as rare (w…
View article: Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions Open
The present study shows that across the globe there was a raise in anxiety levels for both parents and their children with NDCs because of COVID-19 and that country-level factors had little or no impact on explaining differences in this in…
View article: Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting Open
Background With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To hel…
View article: Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis Open
Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but po…
View article: Table of Contents, Volume 193, Number 1, March 2023
Table of Contents, Volume 193, Number 1, March 2023 Open
MEDICAL GENETICS is published in 4 issues per year.Ins� tu� onal subscrip� on prices for 2023 are: Print & Online: US$29,231 (US), US$29,231 (Rest of World), €18,860 (Europe), £14,921 (UK).Prices are exclusive of tax.Asia-Paci c GST,
View article: Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome Open
Copy number variations (CNVs) are associated with psychiatric and neurodevelopmental disorders (NDDs), and most, including the recurrent 15q13.3 microdeletion disorder, have unknown disease mechanisms. We used a heterozygous 15q13.3 microd…
View article: Table of Contents, Volume 190, Number 4, December 2022
Table of Contents, Volume 190, Number 4, December 2022 Open
MEDICAL GENETICS is published in 4 issues per year.Ins� tu� onal subscrip� on prices for 2022 are: Print & Online: US$29,231 (US), US$29,231 (Rest of World), €18,860 (Europe), £14,921 (UK).Prices are exclusive of tax.Asia-Paci c GST,