DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
K Rooney, L van der Laan, S Trajkova… - Genetics in …, 2023 - Elsevier
Purpose HNRNPU haploinsufficiency is associated with developmental and epileptic
encephalopathy 54. This neurodevelopmental disorder is characterized by developmental …
encephalopathy 54. This neurodevelopmental disorder is characterized by developmental …
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
M Aerden, AS Denommé-Pichon, D Bonneau… - European Journal of …, 2023 - nature.com
Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by
intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic …
intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic …
Identification of the DNA methylation signature of Mowat-Wilson syndrome
SG Caraffi, L van der Laan, K Rooney… - European Journal of …, 2024 - nature.com
Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency
of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is …
of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is …
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
J Kerkhof, C Rastin, MA Levy, R Relator… - Genetics in …, 2024 - Elsevier
Purpose This study aims to assess the diagnostic utility and provide reporting
recommendations for clinical DNA methylation episignature testing based on the cohort of …
recommendations for clinical DNA methylation episignature testing based on the cohort of …
[HTML][HTML] Molecular Signatures in Mendelian Neurodevelopment: A Focus on Ubiquitination driven DNA Methylation aberrations
L van der Laan, N ten Voorde, MM Mannens… - Frontiers in Molecular …, 2024 - frontiersin.org
Mendelian disorders, arising from pathogenic variations within single genetic loci, often
manifest as neurodevelopmental disorders (NDDs), affecting a significant portion of the …
manifest as neurodevelopmental disorders (NDDs), affecting a significant portion of the …
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
Abstract Purpose Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder
caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay …
caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay …
Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype
C Sarli, L van der Laan, J Reilly… - American Journal of …, 2024 - Wiley Online Library
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct
from Nicolaides‐Baraister syndrome that presents with distinct facial features of …
from Nicolaides‐Baraister syndrome that presents with distinct facial features of …
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic
variants in TCF4, leading to intellectual disability, specific morphological features, and …
variants in TCF4, leading to intellectual disability, specific morphological features, and …
The intrinsically disordered region of the E3 ubiquitin ligase TRIP12 induces the formation of chromatin condensates and interferes with DNA damage response.
C Vargas, M Brunet, A Ricard, D Varry, F Muzzopappa… - bioRxiv, 2023 - biorxiv.org
Chromatin compaction is crucial for the faithful expression and integrity of the genome.
Although largely studied, proteins and mechanisms that control the chromatin compaction …
Although largely studied, proteins and mechanisms that control the chromatin compaction …
[PDF][PDF] DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
ABSTRACT Purpose: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder
caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay …
caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay …