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Author

Bernice E. Morrow

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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. · 0 citations
Open access Aug 2026

Reduced dosage of Kmt2d modifies Tbx1 haploinsufficiency toward phenotypes of 22q11.2DS

Results indicate that reduced dosage of Kmt2d perturbs the developmental landscape of the Tbx1 heterozygote, eliciting phenotypes that are shared between 22q11.2DS and Kabuki syndrome, suggesting that Tbx1 and Kmt2d developmentally converge upon essential biological processes.

Daniella Miller, Kevyn Jackson, T. C. Cox et al. · 0 citations

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