| Title | Genetic architecture of laterality defects revealed by whole exome sequencing. |
| Publication Type | Journal Article |
| Year of Publication | 2019 |
| Authors | Li, 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 |
| Journal | Eur J Hum Genet |
| Volume | 27 |
| Issue | 4 |
| Pagination | 563-573 |
| Date Published | 2019 04 |
| ISSN | 1476-5438 |
| Keywords | Animals, Body Patterning, Embryonic Development, Female, Genetic Association Studies, Genome, Human, Genomics, GTP Phosphohydrolases, Heart Defects, Congenital, Heterotaxy Syndrome, Humans, Male, Peroxidases, Whole Exome Sequencing, 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 |
| DOI | 10.1038/s41431-018-0307-z |
| Alternate Journal | Eur J Hum Genet |
| PubMed ID | 30622330 |
| PubMed Central ID | PMC6460585 |
| Grant List | U54 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 |