Martin Broly
YOU?
Author Swipe
View article: A <i>WAS</i> promoter variant underlying Wiskott-Aldrich syndrome in two kindreds
A <i>WAS</i> promoter variant underlying Wiskott-Aldrich syndrome in two kindreds Open
We report the same ultra-rare pathogenic noncoding single-nucleotide variant in the promoter of WAS in four male patients from two unrelated kindreds with features of Wiskott-Aldrich syndrome.
View article: Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up Open
View article: Comparison of the ABC and ACMG systems for variant classification
Comparison of the ABC and ACMG systems for variant classification Open
View article: Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case–Control Study
Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case–Control Study Open
In order to assess the clinical and biological criteria that predict gene panel positivity in patients with a suspected inherited genetic autoinflammatory disease, we conducted a case–control study. These new selection criteria could repla…
View article: Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism
Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism Open
View article: THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder Open
View article: Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Open
View article: Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Open
Purpose We describe a novel neurobehavioral syndrome of autism spectrum disorder, intellectual disability, and attention deficit/hyperactivity disorder associated with de novo or inherited deleterious variants in members of the RFX family …
View article: Hidden intra-mandibular carcinoma cuniculatum appearing in a patient with metastatic prostate cancer: a case report
Hidden intra-mandibular carcinoma cuniculatum appearing in a patient with metastatic prostate cancer: a case report Open
View article: Rapid genetic and phenotypic changes in Pseudomonas aeruginosa clinical strains during ventilator-associated pneumonia
Rapid genetic and phenotypic changes in Pseudomonas aeruginosa clinical strains during ventilator-associated pneumonia Open