Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Functional analysis of mutations in TGIF associated with holoprosencephaly.
Molecular Genetics And Metabolism
El-Jaick, Kenia B KB; Powers, Shannon E SE; Bartholin, Laurent L; Myers, Kenneth R KR; Hahn, Jin J; Orioli, Ieda M IM; Ouspenskaia, Maia M; Lacbawan, Felicitas F; Roessler, Erich E; Wotton, David D; Muenke, Maximilian M