Author

V. Shashi

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Open access Sep 2026

The uneven landscape of cognitive domains in 22q11.2 deletion syndrome: A large consortium study

Abstract Background 22q11.2 deletion syndrome (22q11DS) is strongly associated with aberrant neurodevelopment, including decreased cognitive functioning and schizophrenia spectrum disorders (SSDs). While the different core domains of IQ have distinct clinical ramifications, their collective profile has not been well-ch...

A. Fiksinski, Rielle Wierenga, D. McDonald-McGinn et al. · Psychological Medicine · 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

Open access Aug 2026

A high-resolution human pangenome structural variant resource for improved disease association

This work describes the full spectrum of genetic variation and shows that while 99% of the variants between any two genomes are single base-pair substitutions, 88% of the euchromatic variant base pairs are SVs, including insertions, deletions, duplications, and inversions.

J. Lin, J. Gustafson, J. Wertz et al. · medRxiv · 0 citations