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Benjamin J. Landis

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Open access Aug 2026

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers.

Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader-Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified. Four highly conserved genes in the region (NIPA1, NIPA2, CYFIP1...

M. Wright, Maria B Padua, Lindsey R Helvaty et al. · 0 citations

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