Developmental organization of sensory and sympathetic ganglia
Nature. 2026 Apr 1. doi: 10.1038/s41586-026-10313-0. Online ahead of print. ABSTRACT The neural crest generates a broad spectrum of cell types that migrate across the body plan to populate multiple tissues1. However, the relationship between lineages of neural crest derivatives remains unclear, and the extent to which neural crest cells delaminated from the neural tube […]
When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment
Trends Genet. 2026 Mar 31:S0168-9525(26)00038-7. doi: 10.1016/j.tig.2026.02.003. Online ahead of print. ABSTRACT The human ASXL gene family consists of ASXL1, ASXL2, and ASXL3, first described as the additional sex combs (Asx) in Drosophila. The encoded proteins scaffold BAP1-mediated histone H2A deubiquitination. ASXL genes are implicated in pre-cancerous, cancerous, and neurodevelopmental conditions. Truncating mutations predominate and […]
De novo mutations and environmental modifiers: lessons from neural tube defects
Trends Genet. 2026 Mar 18:S0168-9525(26)00030-2. doi: 10.1016/j.tig.2026.01.011. Online ahead of print. ABSTRACT Spina bifida is a clinically and etiologically heterogeneous group of neural tube defects (NTDs) that includes meningomyelocele. While folic acid (FA) supplementation has reduced the incidence by 30-50%, genetic contributors remain only partially understood. New trio sequencing technology has identified de novo mutations […]
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement
Genet Med. 2026 Mar 16:102551. doi: 10.1016/j.gim.2026.102551. Online ahead of print. ABSTRACT PURPOSE: Biallelic DIAPH1 pathogenic variants cause a neurodevelopmental syndrome occasionally associated with immunodeficiency. This study aims to define the clinical and immunological spectrum of DIAPH1-related neuroimmunological syndrome and explore the gene’s developmental role using vertebrate models. METHODS: 53 individuals with biallelic DIAPH1 variants, […]
Genetic Variation in Clinical Cohorts
N Engl J Med. 2026 Mar 12;394(11):1142. doi: 10.1056/NEJMc2518638. NO ABSTRACT PMID:41812208 | DOI:10.1056/NEJMc2518638
Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants
Eur J Pediatr. 2026 Mar 11;185(4):175. doi: 10.1007/s00431-026-06801-0. ABSTRACT Alazami syndrome is a neurodevelopmental disorder characterized by postnatal growth retardation, moderate to severe intellectual disability, and facial dysmorphology. It is caused by biallelic variants in the transcriptional regulator La ribonucleoprotein 7 (LARP7), where frameshift variants accounted for the majority of cases. The current study presents […]
Detecting Extrachromosomal DNA from Routine Histopathology
bioRxiv [Preprint]. 2026 Mar 2:2026.02.27.708546. doi: 10.64898/2026.02.27.708546. ABSTRACT Extrachromosomal DNA (ecDNA) is a major driver of oncogene amplification, tumour heterogeneity and poor clinical outcomes [1-3], yet its detection relies on specialised genomic assays that are not integrated into routine diagnostics. Here, we show that ecDNA status can be inferred directly from standard haematoxylin and eosin-stained […]
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing
Genet Med. 2026 Jan;28(1):101618. doi: 10.1016/j.gim.2025.101618. Epub 2025 Oct 24. ABSTRACT PURPOSE: For decades, the selection of disorders included in newborn screening (NBS) programs has been guided by principles published by Wilson and Jungner in 1968. As research explores the expansion of conditions included in NBS through genomic sequencing, there is a critical need for […]
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders
Am J Hum Genet. 2026 Jan 15:S0002-9297(25)00482-3. doi: 10.1016/j.ajhg.2025.12.011. Online ahead of print. ABSTRACT ASTN1 encodes astrotactin 1, a neuronal-glial ligand in the developing brain that promotes neuronal migration along radial glia in brain structures with laminar organization, such as the cerebral cortex, hippocampus, and cerebellum. In mouse models, disruption of Astn1 results in neuronal […]
Systematic review and meta-analysis of humoral immunity proteins and mortality in sepsis
Crit Care. 2025 Dec 22. doi: 10.1186/s13054-025-05758-0. Online ahead of print. ABSTRACT PURPOSE: Humoral immunity proteins-immunoglobulins, complement proteins, and antimicrobial peptides-have key antimicrobial and immunomodulatory functions in sepsis. We hypothesised that their circulating levels are lower in non-survivors, potentially resulting in impaired bacterial clearance and persistent or recurrent infections. METHODS: We performed a systematic review […]