Edwin Reyniers
YOU?
Author Swipe
View article: Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes and establishment of LEO1 as a novel disease gene
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes and establishment of LEO1 as a novel disease gene Open
This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale de novo burden analysis studies to enhance a virtual gene panel used in a diagnostic setting. We re-analyzed histor…
View article: The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study Open
View article: Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example
Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example Open
Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by co-morbidities such as intellectual disability, epilepsy, visual and hearing impairment and speech and language d…
View article: Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene Open
View article: A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome
A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome Open
View article: Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism
Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism Open
View article: Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability Open
View article: Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature Open
View article: Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections Open
In conclusion, BGN gene defects in humans cause an X-linked syndromic form of severe TAAD that is associated with preservation of elastic fibers and increased TGF-β signaling.Genet Med 19 4, 386-395.
View article: Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome Open