Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

od Peng, Yanyan, Shinde, Deepali N, Alexander Valencia, C, Mo, Jun-Song, Rosenfeld, Jill, Cho, Megan Truitt, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng
Izdano u Hum Mol Genet (2018)

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

od Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Caignec, Cédric Le, Gérard, Marion, Dieterich, Klaus, Cho, Megan Truitt, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, Isidor, Bertrand
Izdano u Genet Med (2019)