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J. Deleuze

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Open access Aug 2026

Deep molecular profiling of lung neuroendocrine tumours and supra-carcinoids

Lung neuroendocrine tumours (NETs, also known as carcinoids) are rapidly rising in incidence worldwide but have unknown aetiology and limited therapeutic options beyond surgery. The current WHO classification, based on mitotic count and presence or absence of necrosis, divides lung NETs into grade-1 typical, and grade-...

A. Sexton-Oates, É. Mathian, N. Candeli et al. · 1 citation
Open access Aug 2026

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

It is concluded that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 duplication as a strong AD-risk-decreasing factor increase AD risk and Conversely, 22q11.21 duplication as a strong AD-risk-decreasing factor is identified.

O. Quenez, Catherine Schramm, K. Cassinari et al. · 1 citation
Open access Aug 2026

EXTL3 dysfunction identified as a driver of aberrant bone development in severe familial ankylosing spondylitis.

This study identifies EXTL3 as a genetic modifier of structural severity in AS and reveals a previously unrecognised role for HS metabolism in pathological ossification, which supports a model in which HLA-B27 primarily confers disease susceptibility, whereas rare variants such as EXTL3 contribute to structural progres...

S. Hilliquin, Olivier Fogel, Mathilde Tissier et al. · 0 citations
Open access Jul 2026

Placental DNA methylation captures shared and trait-specific genetic susceptibility across complex health conditions

A high-resolution placental mQTL resource is constructed and systematically investigated how placental DNAm relates to early- and later-life traits, and to shared vulnerability and complex interactions among them.

A. Cilleros-Portet, Itziar González-Moro, Hachem Sadikki et al. · 0 citations

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