Gueneau L et al. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. Am J Hum Genet. 2018;102(1):116-132. PMID: 29290337.
Alazami AM et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10(2):148-61. PMID: 25558065.
Nagase T et al. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 1998;5(6):355-64. PMID: 10048485.