Genetic architecture of laterality defects revealed by whole exome sequencing

• Published in: European journal of human genetics : EJHG Vol. 27; no. 4; pp. 563 - 573
• Main Authors: Li, Alexander H., Hanchard, Neil A., Azamian, Mahshid, D’Alessandro, Lisa C. A., Coban-Akdemir, Zeynep, Lopez, Keila N., Hall, Nancy J., Dickerson, Heather, Nicosia, Annarita, Fernbach, Susan, Boone, Philip M., Gambin, Tomaz, Karaca, Ender, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Doddapaneni, HarshaVardhan, Hu, Jianhong, Dinh, Huyen, Jayaseelan, Joy, Muzny, Donna, Lalani, Seema, Towbin, Jeffrey, Penny, Daniel, Fraser, Charles, Martin, James, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Ware, Stephanie M., Belmont, John W.
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.04.2019; Springer International Publishing
• Subjects: Congenital defects; Defects; Embryogenesis; Islet-1 protein; Phenotypes; Primary ciliary dyskinesia; Smad2 protein; Whole genome sequencing

Aberrant left-right patterning in the developing human embryo can lead to a broad spectrum of congenital malformations. The causes of most laterality defects are not known, with variants in established genes accounting for <20% of cases. We sought to characterize the genetic spectrum of these con...