CNRGH

Aline Zarea et al.
Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios
Molecular Psychiatry 2026
doi: 10.1038/s41380-026-03665-6

Grégoire Blavier et al.
Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing
Molecular Cytogenetics 2025, vol. 19, issue 1
doi: 10.1186/s13039-025-00740-5

Amandine Billaud et al.
Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer
The Breast 2025, vol. 85
doi: 10.1016/j.breast.2025.104619

M

Salima El Chehadeh et al.
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
Genome Medicine 2025, vol. 17, issue 1
doi: 10.1186/s13073-025-01527-4

Mallek Mziou-Sallami et al.
GNNenrich: a novel method for pathway enrichment analysis based on graph neural network
Bioinformatics 2025, vol. 41, issue 9
doi: 10.1093/bioinformatics/btaf478

Alison S. Devonshire et al.
Interlaboratory evaluation of high molecular weight DNA extraction methods for long-read sequencing and structural variant analysis
BMC Genomics 2025, vol. 26, issue 1
doi: 10.1186/s12864-025-11792-7

Emmanuel Tubacher et al.
MSI expresso: a software for determining MSI status and detecting MSI-related transcription events from RNA sequencing data
Frontiers in Genetics 2025, vol. 16
doi: 10.3389/fgene.2025.1523278

Marie-Sophie C. Ogloblinsky et al.
Benchmark of computational methods to detect digenism in sequencing data
European Journal of Human Genetics 2025
doi: 10.1038/s41431-025-01834-9

François Lecoquierre et al.
Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling
PLOS Genetics 2025, vol. 21, issue 3
doi: 10.1371/journal.pgen.1011651

Maximiliano Ribeiro-Guerra et al.
Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes
Cancers 2025, vol. 17, issue 7
doi: 10.3390/cancers17071062

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