Author

Christina Fagerberg

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Review Open access Sep 2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

It is demonstrated that long-read sequencing can determine the allelic origin of de novo IGF2 variants using differentially methylated regions, eliminating the need for parental samples, and confirms long-read sequencing as a powerful tool for identifying de novo variant origins in imprinted genes like IGF2.

T. Juul, S. E. Boonen, K. V. Pedersen et al. · Clinical Genetics · 0 citations

Review Open access Jul 2026

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.

Sally Nijim, Mimi Kim, Melissa Denish et al. · Genetics in Medicine · 1 citation