Léonor Palmeira

Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder

Olivier Hakizimana, Janvier Hitayezu, Jeanne P. Uyisenga, Norbert Dukuze et autres

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental condition with substantial genetic and phenotypic heterogeneity. However, populations of African ancestry remain underrepresented in genomic studies, limiting understanding of ASD genetic architecture. This study aimed to characterize rare, clinically relevant genetic variants in …

Rwanda, be (code pays fourni par la source)

Long Read Sequencing of Filaggrin identifies extensive copy number variation in exon 3 and detects rare loss of function variants

Victor Grentzinger, Maria Artesi, Léonor Palmeira, Nathalie Renotte et autres

Loss of function (LOF) variants of the Filaggrin gene ( FLG ) are risk factors for atopic dermatitis (AD). However, due to the repetitive nature of exon 3 these variants are difficult to characterize. We sought to determine whether the use of …

be, gb, ie, Rwanda (code pays fourni par la source)

Monogenic etiologies among individuals with early‑onset obesity: findings from a real‑world Belgian cohort

Julie Harvengt, Muriel Hannon, Léonor Palmeira, Marie-Christine Lebrethon et autres

peer reviewed

A combined genomic and functional approach to One-Carbon Metabolism disorders in a population-based newborn screening

Émeline Gernez, Kristine Hovhannesyan, Valérie Jacquemin, Laura HELOU et autres

fr, be (code pays fourni par la source)

A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care

Mathilde Geysens, Erika L. Souche, Valérie Benoît, Wouter Bossuyt et autres

ABSTRACT Background exome (ES) or genome (GS) sequencing are recommended as first- or second-tier molecular tests for patients with developmental disorders (DD), but the clinical utility of GS continues to be debated. Methods This prospective randomized trial involving all Belgian Human Genetics …

us, be (code pays fourni par la source)

Analytical Validation of a Genomic Newborn Screening Workflow

Kristine Hovhannesyan, Laura Helou, Benoît Charloteaux, Valérie Jacquemin et autres

Newborn screening (NBS) has evolved significantly since its inception, yet many treatable rare diseases remain unscreened due to technical limitations. The BabyDetect study used gene panel sequencing to expand NBS to treatable conditions not covered by conventional biochemical screening. We present here …

be, gb (code pays fourni par la source)

Monogenic etiologies in a cohort of early onset obesity: a real-world experience from Belgium

Julie Harvengt, Léonor Palmeira, Marie-Christine Lebrethon, Vinciane Dideberg et autres

Introduction: Obesity is a major global health issue with multifactorial etiologies. Among them, recent advances in the comprehension of eating and energy regulation showed that around 60 genes involved in the hypothalamic leptin/melanocortin pathway contribute to the development of rare monogenic or …

be (code pays fourni par la source)

Analytical Validation of a Genomic Newborn Screening Workflow

Kristine Hovhannesyan, Laura Helou, Benoît Charloteaux, Valérie Jacquemin et autres

Newborn Screening (NBS) has evolved significantly since its inception, yet many treatable rare diseases remain unscreened due to technical limitations. The BabyDetect study used a targeted next-generation sequencing (tNGS) panel to expand NBS to treatable conditions not covered by conventional screening. We …

be, gb (code pays fourni par la source)

Population-based, first-tier genomic newborn screening in the maternity ward

François Boemer, Kristine Hovhannesyan, Flávia Balbo Piazzon, Frédéric Minner et autres

The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of …

be, gb (code pays fourni par la source)

Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature

Prince Makay, Corinne Fasquelle, Gerrye Mubungu, Esther Maboso Ekolo et autres

To date, nearly 200 patients with GCPS have been reported (Kozma et al., 2021), including twenty-seven patients referred to as GCPS-CGS (Kozma et al., 2021;Zung et al., 2011).None of the reported patients are from Sub-Saharan Africa, where multiple overshadowing conditions such as …

République démocratique du Congo, us, be (code pays fourni par la source)

Genetic evaluation of patients with multiple primary cancers

M. Carral Freire, Romain Thissen, Marie Martin, Corinne Fasquelle et autres

Regarding inherited cancer predisposition, single gene carriers of pathogenic variants (PVs) have been extensively reported on in the literature, whereas the oligogenic coinheritance of heterozygous PVs in cancer-related genes is a poorly studied event. Currently, due to the increased number of cancer …

be (code pays fourni par la source)

Genetic etiology of autism spectrum disorder in the African population: a scoping review

Olivier Hakizimana, Janvier Hitayezu, Jeanne P. Uyisenga, Hope Onohuean et autres

Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by significant impairments in social, communicative, and behavioral abilities. However, only a limited number of studies address the genetic basis of ASD in the African population. This study aims to document …

be, Rwanda, Ouganda (code pays fourni par la source)