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Select item 63056291.

Clinical whole‐exome sequencing results impact medical management

Nancy Niguidula, Christina Alamillo, Layla Shahmirzadi Mowlavi, Zöe Powis, Julie S. Cohen, Kelly D. Farwell Hagman

Mol Genet Genomic Med. 2018 Nov; 6(6): 1068–1078. Published online 2018 Oct 14. doi: 10.1002/mgg3.484

PMCID:: PMC6305629

Abstract Article PDF–873K

Select item 60187122.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Laura Mary, Amélie Piton, Elise Schaefer, Francesca Mattioli, Elsa Nourisson, Claire Feger, Claire Redin, Magali Barth, Salima El Chehadeh, Estelle Colin, Christine Coubes, Laurence Faivre, Elisabeth Flori, David Geneviève, Yline Capri, Laurence Perrin, Jennifer Fabre-Teste, Dana Timbolschi, Alain Verloes, Robert Olaso, Anne Boland, Jean-François Deleuze, Jean-Louis Mandel, Bénédicte Gerard, Irina Giurgea

Eur J Hum Genet. 2018 Jul; 26(7): 996–1006. Published online 2018 Apr 26. doi: 10.1038/s41431-018-0096-4