Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
H Thomas, T Alix, É Renard, M Renaud… - Journal of Medical …, 2024 - jmg.bmj.com
Background Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA
methyltransferase 3 alpha (DNMT3A)-overgrowth syndrome (DOS), was first described by …
methyltransferase 3 alpha (DNMT3A)-overgrowth syndrome (DOS), was first described by …
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Z Awamleh, S Choufani, W Wu, D Rots… - European Journal of …, 2024 - nature.com
Pathogenic variants in KANSL1 and 17q21. 31 microdeletions are causative of Koolen-de
Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial …
Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial …
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
M Geysens, B Huremagic, E Souche, J Breckpot… - Genome Medicine, 2025 - Springer
Background A subset of developmental disorders (DD) is characterized by disease-specific
genome-wide methylation changes. These episignatures inform on the underlying …
genome-wide methylation changes. These episignatures inform on the underlying …
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
C Nava, B Cogne, A Santini, E Leitão, F Lecoquierre… - medRxiv, 2024 - medrxiv.org
Variants in RNU4-2, encoding the small nuclear RNA (snRNA) U4, were recently identified
as a major cause of neurodevelopmental disorders (ReNU syndrome). Here, we …
as a major cause of neurodevelopmental disorders (ReNU syndrome). Here, we …
Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool
GF da Silva Carvalho, CM de Gusmão, BM Wolff… - Clinical …, 2024 - Springer
Background/objectives KMT2B-related dystonia (DYT28, OMIM# 617284) is a progressive
neurological condition characterized by early onset movement disorders with autosomal …
neurological condition characterized by early onset movement disorders with autosomal …
Les maladies génétiques de la machinerie épigénétique
M de Dieuleveult, G Velasco - médecine/sciences, 2024 - medecinesciences.org
Le développement des technologies de séquençage et leur accessibilité accrue dans les
services hospitaliers et les laboratoires de génétique a considérablement accéléré …
services hospitaliers et les laboratoires de génétique a considérablement accéléré …
2023 in the European Journal of Human Genetics
A McNeill - European Journal of Human Genetics, 2024 - nature.com
Let us open 2024 with a review of what was published in the European Journal of Human
Genetics in the calendar year 2023. Our impact factor remained stable at 5.2, while the …
Genetics in the calendar year 2023. Our impact factor remained stable at 5.2, while the …
Using exomes better
A McNeill - European Journal of Human Genetics, 2024 - nature.com
Biochemical newborn screening for treatable metabolic disorders is well established. Many
countries are now exploring the use of genome sequencing to identify a broader range of …
countries are now exploring the use of genome sequencing to identify a broader range of …
Nanopore sequencing-based episignature detection
M Geysens, B Huremagic, E Souche, J Breckpot… - medRxiv, 2024 - medrxiv.org
Background: A subset of developmental disorders (DD) is characterized by disease-specific
genome-wide methylation changes. These episignatures inform about underlying …
genome-wide methylation changes. These episignatures inform about underlying …
Klinička vrijednost analize epigenetičkog potpisa u neurorazvojnim poremećajima
M Dobrošević - 2024 - repozitorij.mef.unizg.hr
Sažetak Neurorazvojni poremećaji skupina su poremećaja s teškoćama u osobnom,
socijalnom, akademskom i/ili okupacijskom funkcioniranju, a za sve više njih se otkriva …
socijalnom, akademskom i/ili okupacijskom funkcioniranju, a za sve više njih se otkriva …