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, H, Hu, J, Dinh, H, Jayaseelan, J, Muzny, DM, 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
KeywordsAnimals, Body Patterning, Embryonic Development, Exome Sequencing, Female, Genetic Association Studies, Genome, Human, Genomics, GTP Phosphohydrolases, Heart Defects, Congenital, Heterotaxy Syndrome, Humans, Male, Peroxidases, Zebrafish, Zebrafish Proteins
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
PubMed Central IDPMC6460585
Grant ListU54 HD083092 / HD / NICHD NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States
K08 HG008986 / HG / NHGRI NIH HHS / United States
R01 HD039056 / HD / NICHD NIH HHS / United States
K23 HL127164 / HL / NHLBI NIH HHS / United States
R01 HL091771 / HL / NHLBI NIH HHS / United States
R01 HL090506 / HL / NHLBI NIH HHS / United States
P01 HL134599 / HL / NHLBI NIH HHS / United States

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