Drutman SB, Mansouri D, Mahdaviani SAlireza, Neehus A-L, Hum D, Bryk R, Hernandez N, Belkaya S, Rapaport F, Bigio B et al..  2020.  Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency.. N Engl J Med. 382(5):437-445.

Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan W-M, Andrews C, Chew S, Jamieson RV et al..  2012.  An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.. Hum Mol Genet. 21(26):5484-99.

Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TRJ, McMullin MFrances, Lee FS.  2008.  A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.. N Engl J Med. 358(2):162-8.