Author

M. Nyegaard

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Review Open access Sep 2026

Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications.

BACKGROUND In 1999, Dr Susan Treloar and colleagues conducted a landmark twin study in Australia and reported their estimate of 51% for the heritability of endometriosis. This important result led several groups to begin mapping genetic factors contributing to increased endometriosis risk. Despite early challenges, adv...

G. Montgomery, Isabelle M. McGrath, Michael Toft Overgaard et al. · Human Reproduction Update · 0 citations

Open access Jul 2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

This work provides mechanistic evidence that a position effect at the SOX3 locus can cause hereditary spastic paraplegia and identifies a 3D regulatory rewiring of SOX3 and transcriptional dysregulation of SOX3 targets in iPSC-derived neurons.

T. Terkelsen, V. Yumiceba, Joshua Kim et al. · American Journal of Human Ge... · 0 citations