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Rare Mendelian Disease in Old Order Amish and Mennonite Patients

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Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

E. Puffenberger, R. N. Jinks, C. Sougnez, et al. (2012). PLoS ONE. Cited 308 times. https://doi.org/10.1371/journal.pone.0028936

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

E. Puffenberger, R. N. Jinks, Heng Wang, et al. (2012). Human Mutation. Cited 110 times. https://doi.org/10.1002/humu.22237