Genetic architecture of laterality defects revealed by whole exome sequencing.

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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
Volume27
Issue4
Pagination563-573
Date Published2019 Apr
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) /