Ruben Gur, Carrie Bearden, Sébastien Jacquemont, Khadije Jizi, Therese Amelsvoort van, Marianne van den Bree, Jacob Vorstman, Jonathan Sebat, Kosha Ruparel, Robert Gallagher, Ann Swillen, Emily McClellan, Lauren White, Terrence Crowley, Victoria Giunta, Leila Kushan, Kathleen O'Hora, Jente Verbesselt, Ans Vandensande, Claudia Vingerhoets, Mieke van Haelst, Jessica Hall, Janet Harwood, Samuel Chawner, Nishi Patel, Katrina Palad, Oanh Hong, James Guevara, Charles-Olivier Martin, Anne-Marie Bélanger, Stephen Scherer, Anne Bassett, Donna McDonald-McGinn, Raquel Gur
Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11.2 and 16p11.2 are among the most common rare genetic disorders associated with significant risk for neuropsychiatric disorders across the lifespan. Microdeletions and duplications in these loci are associated with neurocognitive deficits, yet there are few studies comparing these groups using the same measures. We address this gap in a prospective international collaboration applying the same computerized neurocognitive assessment. The Penn Computerized Neurocognitive Battery (CNB) was administered in a multi-site study on rare genomic disorders: 22q11...
December 29, 2023: Research Square