Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly
Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré, Charlotte Mouden, Houda Hamdi‐Rozé, Hélène Guyodo, Jérôme Le Douce, Emmanuelle Génin, Dominique Campion, Jean‐François Dartigues, Jean‐François Deleuze, Jean‐Charles Lambert, Richard Redon, Thomas E Ludwig, , Tania Attié‐Bitach
This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.
Brain · Oct 29, 2018Peer-reviewedGenetics