Mendelian gene identification through mouse embryo viability screening
Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz‐Fuentes, Chih‐Wei Hsu, Ignatia B. Van den Veyver, Ann Marie Flenniken, Colin McKerlie, Stephen A. Murray, Lydia Teboul, Jason D. Heaney, K. C. Kent Lloyd, Louise Lanoue, , John Pullinger
The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.
Genome Medicine · Oct 13, 2022Peer-reviewedGenetic & Genomic Medicine