OBJECTIVE: Carbamazepine is the first line treatment for patients affected by KCNQ2 developmental and epileptic encephalopathy. It is efficient to reduce or stop seizures in this context. However,...
Epilepsia Open - issue: - volume: - pages: .

Pathogenic variants in γ-aminobutyric acid type A (GABA(A)) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding...
Epilepsia - issue: - volume: - pages: .

The fibroblast growth factor 12 (FGF12) gene encodes a protein interacting with voltage-gated sodium channels. Two variants, p.(Arg52His) and p.(Gly50Ser), have repeatedly been associated with...
Epilepsia - issue: - volume: - pages: .

PURPOSE: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant...
Genet Med - issue: 4 - volume: 27 - pages: 101251.

Forty first-trimester human hearts were studied to lay groundwork for further studies of principles underlying congenital heart defects. We first sampled 49,227 cardiac nuclei from three fetuses at...
Development - issue: 152 - volume: 5 - pages: DEV204555.

Integrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patients....
Lancet Reg Health Eur - issue: - volume: 50 - pages: 101183.

Background Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation, muscle degeneration and mitochondrial dysfunction. We aimed to...
Orphanet J Rare Dis - issue: 1 - volume: 20 - pages: 27.

Sci Rep - issue: 1 - volume: 15 - pages: 1412.

Anterior Hox genes are required for genetic identity and anterior posterior patterning of the second heart field (SHF), which contributes to the formation of the embryonic heart in vertebrates....
Methods Mol Biol - issue: - volume: 2889 - pages: 121-137.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase...
Am J Hum Genet - issue: 1 - volume: 112 - pages: 75-86.

Background:  Biological networks have proven invaluable ability for representing biological knowledge. Multilayer networks, which gather different types of nodes and edges in multiplex, heterogeneous...
BMC Bioinformatics - issue: - volume: - pages: .

- issue: - volume: - pages: .

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied...
Eur J Hum Genet - issue: - volume: - pages: Online ahead of print.

Herpes simplex virus 1 (HSV-1) latently infected neurons display diverse patterns in the distribution of the viral genomes within the nucleus. A key pattern involves quiescent HSV-1 genomes...
Proc Natl Acad Sci USA - issue: 49 - volume: 129 - pages: e2412258121.

Cardiopharyngeal mesoderm contributes to the formation of the heart and head muscles. However, the mechanisms governing cardiopharyngeal mesoderm specification remain unclear. Here, we reproduce...
Nat Commun - issue: 1 - volume: 15 - pages: 10172.

Abstract Cardiopharyngeal mesoderm contributes to the formation of the heart and head muscles. However, the mechanisms governing cardiopharyngeal mesoderm specification remain unclear....
Nat Commun - issue: 1 - volume: 15 - pages: 10172.

Introduction: Circulating cell-free DNA (cfDNA) is emerging as a non-invasive biomarker in solid organ transplantation (SOT) monitoring and data on its diagnostic potential have been increasing in...
Front Transplant - issue: - volume: - pages: eCollection 2024.

Congenital heart defects (CHDs), the most common congenital anomalies, are considered to have a significant genetic component. However, despite considerable efforts to identify pathogenic genes in...
Dis Model Mech - issue: 11 - volume: 17 - pages: dmm050913.

Background: Approximately half of hypertrophic cardiomyopathy (HCM) patients lack a precise genetic diagnosis. The likelihood of identifying clinically relevant variants increased over time. ...
Front Med - issue: - volume: 11 - pages: 1480947.

Rubinstein-Taybi syndrome (RTS) is a rare and severe genetic developmental disorder characterized by multiple congenital anomalies and intellectual disability. CREBBP and EP300, the two genes known to...
Commun Biol - issue: 1 - volume: 7 - pages: 1331.