Explanipedia

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

Mathilde Geysens, Erika Souche, Maria Chiara Baroni, Valérie Benoît, Tesse Beyltjens , et al. · 2025

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 rando…

Analytical Validation of a Genomic Newborn Screening Workflow Open

Kristine Hovhannesyan, Laura Helou, Benoît Charloteaux, Valérie Jacquemin, Flávia Piazzon , et al. · 2025

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 n…

P12.11.B MGMT METHYLATION STATUS IS STABLE AT PROGRESSION OF GLIOBLASTOMAS Open

Bin Deng, Youri Hoogstrate, K Draaisma, Ann Hoeben, Slávka Lukacova , et al. · 2025

BACKGROUND Promoter methylation of O6-methylguanine-DNA methyltransferase (MGMT) is associated with longer survival and with response to chemotherapy in newly diagnosed glioblastoma patients. As demethylation may form a means to treatment …

Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect Open

P. Bartoszek, François Boemer, Kristine Hovhannesyan, Valérie Jacquemin, Flávia Piazzon , et al. · 2025

Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associat…

Analytical Validation of a Genomic Newborn Screening Workflow Open

Kristine Hovhannesyan, Laura Helou, Benoît Charloteaux, Valérie Jacquemin, Flávia Piazzon , et al. · 2025

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 …

Assessing Random Forest self-reproducibility for optimal short biomarker signature discovery Open

Ahmed Debit, Christophe Poulet, Claire Josse, Guy Jérusalem, Chloé‐Agathe Azencott , et al. · 2025

Biomarker signature discovery remains the main path to developing clinical diagnostic tools when the biological knowledge on pathology is weak. Shortest signatures are often preferred to reduce the cost of the diagnostic. The ability to fi…

Response to neoadjuvant chemotherapy in early breast cancers is associated with epithelial–mesenchymal transition and tumor‐infiltrating lymphocytes Open

Françoise Derouane, Jérôme Ambroise, Cédric van Marcke, Mieke Van Bockstal, Martine Berlière , et al. · 2025

Epithelial–mesenchymal transition (EMT) and tumor‐infiltrating lymphocytes (TILs) play a central role in early‐stage breast cancer (BC) and are associated with chemoresistance, stemness, and invasion. The objective of this study was two fo…

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

François Boemer, Kristine Hovhannesyan, Flávia Piazzon, Frédéric Minner, Myriam Mni , et al. · 2025

Variants in<i>NR6A1</i>as a cause for congenital renal, vertebral and uterine anomalies Open

Adeline Jacquinet, Lydie Flasse, Manon Dohet, Romane Vanhaeren, Hélène Pendeville , et al. · 2025

The underlying cause for renal and uterine agenesis remains unknown in many cases, whereas recurrence in some families strongly suggests the involvement of genetic factors. Here, we identify 5 affected individuals from 3 families with phen…

Shprintzen – Goldberg syndrome without intellectual disability: A clinical report and review of literature Open

Camille Chatelain, Léna Kukor, Sophie Bailleux, Vincent Bours, Saskia Bulk , et al. · 2024

Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder caused by heterozygous mutations in the Sloan-Kettering Institute (SKI) gene. The clinical presentation is reminiscent of Marfan and Loeys-Dietz syndromes, making d…

Non-Immune-Mediated, p27-Associated, Growth Inhibition of Glioblastoma by Class-II-Transactivator (CIITA) Open

A. Katherine Tan, Aurélie Henry, Nicolas Goffart, Christophe Poulet, Jacqueline A. Sluijs , et al. · 2024

Background: Previous works have shown that the expression of Class-II-Transactivator (CIITA) in tumor cells reduces the growth of glioblastoma (GB) in animal models, but immune effects cannot solely explain this. Here, we searched for immu…

Genetic evaluation of patients with multiple primary cancers Open

M. Carral Freire, Romain Thissen, Marie Martin, Corinne Fasquelle, Laura Helou , et al. · 2024

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 …

Emergence of the B.1.214.2 SARS-CoV-2 lineage with an Omicron-like spike insertion and a unique upper airway immune signature Open

Andrew Holtz, Johan Van Weyenbergh, Samuel L. Hong, Lize Cuypers, Áine O’Toole , et al. · 2024

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

Olivier Hakizimana, Janvier Hitayezu, Jeanne P. Uyisenga, Hope Onohuean, Léonor Palmeira , et al. · 2024

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 bas…

Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients Open

V Freire, Marie Martin, Karin Segers, Edith Sépulchre, Natacha Leroi , et al. · 2024

Background/Objectives: BRCA1, BRCA2, ATM, and CHEK2 are known cancer predisposition genes (CPGs), but tumor risk in patients with simultaneous pathogenic variants (PVs) in CPGs remains largely unknown. In this study, we describe six patien…

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants Open

Richard Gallon, Carlijn Brekelmans, Marie Martin, Vincent Bours, Esther Schamschula , et al. · 2024

Emergence of the B.1.214.2 SARS-CoV-2 lineage with an Omicron-like spike insertion and a unique upper airway immune signature Open

Andrew Holtz, Johan Van Weyenbergh, Samuel L. Hong, Lize Cuypers, Áine O’Toole , et al. · 2024

We investigate the emergence, mutation profile, and dissemination of SARS-CoV-2 lineage B.1.214.2, first identified in Belgium in January 2021. This variant, featuring a 3-amino acid insertion in the spike protein similar to the Omicron va…

Intrahost evolution leading to distinct lineages in the upper and lower respiratory tracts during SARS-CoV-2 prolonged infection Open

Majdouline El Moussaoui, Sébastien Bontems, Cécile Meex, Marie‐Pierre Hayette, Marie Lejeune , et al. · 2024

Accumulating evidence points to persistent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections in immunocompromised individuals as a source of genetically divergent, novel lineages, generally characterised by increased …

Population-Based, First-Tier Genomic Newborn Screening in a Single Maternity Ward in Belgium: Results of Babydetect Project Open

François Boemer, Kristine Hovhannesyan, Flávia Piazzon, Frédéric Minner, Myriam Mni , et al. · 2024

Intrahost evolution leading to distinct lineages in the upper and lower respiratory tracts during SARS-CoV-2 prolonged infection Open

Majdouline El Moussaoui, Sébastien Bontems, Cécile Meex, Marie‐Pierre Hayette, Marie Lejeune , et al. · 2024

Accumulating evidence points to persistent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections in immunocompromised individuals as a source of novel lineages. While intrahost evolution of the virus in chronically infect…

Limited Effects of Class II Transactivator-Based Immunotherapy in Murine and Human Glioblastoma Open

A. Katherine Tan, Aurélie Henry, Nicolas Goffart, Sofie van Logtestijn, Vincent Bours , et al. · 2023

Background: The major histocompatibility complex type II is downregulated in glioblastoma (GB) due to the silencing of the major transcriptional regulator class II transactivator (CIITA). We investigated the pro-immunogenic potential of CI…

296P Identification of metabolism-related therapeutic targets to improve response to neoadjuvant chemotherapy in early breast cancers Open

Françoise Derouane, Cédric van Marcke, Jérôme Ambroise, Martine Berlière, Mieke Van Bockstal , et al. · 2023

Shprintzen-Goldberg Syndrome: A Case Report and Review of Literature Open

Camille Chatelain, Saskia Bulk, Vincent Bours, Elisa Docampo · 2023

Background: Shprintzen-Goldberg syndrome (SGS) is a rare systemic connective tissue disorder with a clinical presentation reminiscent of both Marfan syndrome (MF) and Loeys-Dietz syndrome (LDS). This makes differential diagnosis challengin…

Reconstruction of SARS-CoV-2 outbreaks in a primary school using epidemiological and genomic data Open

Cécile Kremer, Andrea Torneri, Pieter Libin, Cécile Meex, Marie‐Pierre Hayette , et al. · 2023

Immunovirological and environmental screening reveals actionable risk factors for fatal COVID-19 during post-vaccination nursing home outbreaks Open

Lize Cuypers, Els Keyaerts, Samuel L. Hong, Sarah Gorissen, Soraya Maria Menezes , et al. · 2023

Newborn screening for sickle cell disease in Kisangani, Democratic Republic of the Congo: an update Open

Emmanuel Tebandite Kasaï, Béatrice Gulbis, Justin Kadima Ntukamunda, Vincent Bours, Salomon Batina Agasa , et al. · 2023

The prevalence of homozygote form has doubled compared to the 0.96% reported in 2010. Setting up a neonatal screening program and an awareness unit is necessary to assess the need for care services correctly.

Assessment of the normal cell contamination impact on tumour sample analysed with SNP arrays: The signal confusion nightmare Open

Christophe Poulet, James T. Swingland, Vincent Botta, Pierre A. Robe, Christian Herens , et al. · 2023

Recent advances in high-throughput technologies enable a more comprehensive interpretation of the tumour evolution through the study of the intra-tumour heterogeneity. Several algorithms, however, often relies on the use of models that des…

Assessing Random Forest self-reproducibility for optimal short biomarker signature discovery Open

Christophe Poulet, Ahmed Debit, Claire Josse, Guy Jérusalem, Chloé‐Agathe Azencott , et al. · 2023

Biomarker signature discovery remains the main path to develop clinical diagnostic tools when the biological knowledge on a pathology is weak. Shortest signatures are often preferred to reduce the cost of the diagnostic. The ability to fin…

Transcriptome analysis reveals tumor microenvironment changes in glioblastoma Open

Youri Hoogstrate, Kaspar Draaisma, Santoesha A. Ghisai, Levi van Hijfte, Nastaran Barin , et al. · 2023

Diagnostic Performance of Immunohistochemistry Compared to Molecular Techniques for Microsatellite Instability and p53 Mutation Detection in Endometrial Cancer Open

Sylvie Streel, Alixe Salmon, Adriane Dheur, Vincent Bours, Natacha Leroi , et al. · 2023

Molecular algorithms may estimate the risk of recurrence and death for patients with endometrial cancer (EC) and may impact treatment decisions. To detect microsatellite instabilities (MSI) and p53 mutations, immunohistochemistry (IHC) and…

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