Litcius/Paper detail

DNA methylation episignature in Gabriele-de Vries syndrome

Florian Cherik, Jack Reilly, Jennifer Kerkhof, Michael A. Levy, Haley McConkey, Mouna Barat‐Houari, Kameryn M. Butler, Christine Coubes, Jennifer A. Lee, Gwenaël Le Guyader, Raymond J. Louie, Wesley G Patterson, Matthew L. Tedder, Mads Bak, Trine Bjørg Hammer, William Craigen, Florence Démurger, Christèle Dubourg, Mélanie Fradin, Rachel Franciskovich, Eirik Frengen, Jennifer Friedman, Nathalie Ruiz Palares, Maria Iascone, Doriana Misceo, Pauline Monin, Sylvie Odent, Christophe Philippe, Flavien Rouxel, Veronica Saletti, Petter Strømme, Perla Thulin, Bekim Sadiković, David Geneviève

2022Genetics in Medicine17 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationDNA methylationGeneticsHypotoniaPhenotypeMethylationBiologyDNABioinformaticsGeneGene expressionGenomic variations and chromosomal abnormalitiesCongenital limb and hand anomaliesGenetic Syndromes and Imprinting