References for Specific Topics
Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. 2008;45:1–14.
Bertram L, Lill CM, Tanzi RE. The genetics of Alzheimer disease: back to the future. Neuron. 2010;68:270–281.
Concannon P, Rich SS, Nepom GT. Genetics of type 1A diabetes. N Engl J Med. 2009;360:1646–1664.
Emison ES, Garcia-Barcelo M, Grice EA, et al. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung Disease liability. Am J Hum Genet. 2010;87:60–74.
Malhotra D, McCarthy S, Michaelson JJ, et al. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron. 2011;72:951–963.
Segal JB, Brotman DJ, Necochea AJ, et al. Predictive value of Factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation. JAMA. 2009;301:2472–2485.
Trowsdale J, Knight JC. Major histocompatibility complex genomics and human disease. Annu Rev Genomics Hum Genet. 2013;14:301–323.