Article
Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study.
The lancet. Psychiatry - 1 Jul 2018
Olsen Line, Sparsø Thomas, Weinsheimer Shantel M, Dos Santos Marcelo Bertalan Quintanilha, Mazin Wiktor, Rosengren Anders, Sanchez Xabier Calle, Hoeffding Louise K, Schmock Henriette, Baekvad-Hansen Marie, Bybjerg-Grauholm Jonas, Daly Mark J, Neale Benjamin M, Pedersen Marianne G, Agerbo Esben, Mors Ole, Børglum Anders, Nordentoft Merete, Hougaard David M, Mortensen Preben Bo, Geschwind Daniel H, Pedersen Carsten, Thompson Wesley K, Werge Thomas
Abstract excerpt
BACKGROUND: Although the pathogenic nature of copy number variants (CNVs) on chromosome 22q11.2 has been recognised for decades, unbiased estimates of their population prevalence, mortality, disease risks, and diagnostic trajectories are absent. We aimed to provide the true population prevalence of 22q11.2 CNVs and associated trajectory of disease risk and mortality by use of the unbiased, representative Danish...
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