Genetic architecture of laterality defects revealed by whole exome sequencing.

TitleGenetic architecture of laterality defects revealed by whole exome sequencing.
Publication TypeJournal Article
Year of Publication2019
AuthorsLi, AH, Hanchard, NA, Azamian, M, D'Alessandro, LCA, Coban-Akdemir, Z, Lopez, KN, Hall, NJ, Dickerson, H, Nicosia, A, Fernbach, S, Boone, PM, Gambin, T, Karaca, E, Gu, S, Yuan, B, Jhangiani, SN, Doddapaneni, HV, Hu, J, Dinh, H, Jayaseelan, J, Muzny, D, Lalani, S, Towbin, J, Penny, D, Fraser, C, Martin, J, Lupski, JR, Gibbs, RA, Boerwinkle, E, Ware, SM, Belmont, JW
JournalEur J Hum Genet
Date Published2019 Jan 08
ISSN1476-5438
Abstract

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

DOI10.1038/s41431-018-0307-z
Alternate JournalEur. J. Hum. Genet.
PubMed ID30622330
Grant List1U54 HD083092 / / U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) /
5RO1 HL090506 / / U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) /
2013096 / / Doris Duke Charitable Foundation (DDCF) /
UM1HG006542 / / U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) /