Anne-Marie Guerrot

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder

Pinella Failla, Valentina Muto, Antonella Lauri, Lucia Saccuzzo et autres

The G-protein-coupled receptor kinase-interacting protein 1, GIT1, is a multifunctional scaffold protein that plays key roles in the regulation of actin cytoskeletal dynamics, focal adhesion assembly, membrane trafficking, and intracellular signaling. In mice, loss of Git1 function causes a microcephaly-like phenotype characterized …

it, fr, cn (code pays fourni par la source)

Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing

Grégoire Blavier, François Lecoquierre, Anne-Marie Guerrot, Géraldine Joly Helas et autres

INTRODUCTION: Partial gene duplications are structural variants that are challenging to interpret, particularly in the context of neurodevelopmental disorders. The ASH1L gene, associated with autism spectrum disorders and cognitive impairment, exemplifies the complexity of such variants. This study explores the integration of …

fr (code pays fourni par la source)

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study

Salima El Chehadeh, Solveig Heide, Chloé Quēlin, Marlène Rio et autres

BACKGROUND: Intellectual disability (ID) is the leading cause of patient referral to medical genetic departments in French academic hospitals. Whole genome sequencing (WGS) as a first diagnostic approach is expected to achieve a higher diagnostic yield than the French national reference strategies …

fr (code pays fourni par la source)

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

Xiaoxia Peng, Xiangbin Jia, Hanying Wang, Jingjing Chen et autres

The Integrator complex plays essential roles in RNA polymerase II (RNAPII) transcription termination and RNA processing. Here, we identify INTS6, a subunit of the Integrator complex, as a novel gene associated with neurodevelopmental disorders (NDDs). Through analysis of large NDD cohorts and …

cn, de, us, fr, it, il, si, rs, pl, nl (code pays fourni par la source)

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Benjamin Cogné, Miriam Essid, Maria Athanasiadou et autres

Abstract Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, previously overlooked role for noncoding snRNAs in human disease. Here, we systematically analysed 200 …

de, fr, us, au, br, dk, gb, nz (code pays fourni par la source)

Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing

Grégoire Blavier, François Lecoquierre, Anne-Marie Guerrot, Géraldine Joly Helas et autres

fr (code pays fourni par la source)

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

Marissa J. Maroni, M. Kathryn Barton, Katherine A. Lynch, Ashish R. Deshwar et autres

Individuals with monoallelic gain-of-function variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of DOT1L remains unclear. Here, we sought to define the effects of partial DOT1L loss by applying …

us, ca, cu, cl, gb, dk, nl, au, fr, bg, es, de (code pays fourni par la source)

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterization of chromatinopathies.

Angelo Tognon, Anne-Claire Richard, Guillaume Velasco, Gilles Phan et autres

fr, ro, es, hr, nl, de, be (code pays fourni par la source)

Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features

Christel Thauvin‐Robinet, Aurore Garde, M Favier, Julian Delanne et autres

fr, Maroc (code pays fourni par la source)

PFMG2025–integrating genomic medicine into the national healthcare system in France

Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel et autres

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. France was one of the first countries to integrate genome sequencing into clinical practice at a nationwide …

The phenotypic spectrum of CEP250 gene variants

Cécile Courdier, Claire‐Marie Dhaenens, Olivier Grunewald, Anne-Marie Guerrot et autres

Introduction Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in CEP250 cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors dysfunction without vestibular …

fr, Maroc, us (code pays fourni par la source)

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder

Marissa J. Maroni, M. Kathryn Barton, Katherine A. Lynch, Ashish R. Deshwar et autres

Abstract Individuals with monoallelic gain-of-function variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of DOT1L remains unclear. Here, we sought to define the effects of partial DOT1L loss by …

us, ca, cl, gb, nl, dk, au, es, fr, bg, de, pl (code pays fourni par la source)