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Genetic Basis of Developmental Disabilities

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Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

Nara Sobreira, Elizabeth T. Cirulli, D. Avramopoulos, et al. (2010). PLoS Genetics. Cited 219 times. https://doi.org/10.1371/journal.pgen.1000991

Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior

M. Shirley, L. Frelin, José Soria López, et al. (2016). PLoS ONE. Cited 6 times. https://doi.org/10.1371/journal.pone.0149646