Litcius/Paper detail

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koenraad Devriendt, Helen Stewart, Benito Baños-Piñero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel Van Maldergem, Juliette Piard, Elise Brischoux‐Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernández‐Jaén, Sara Álvarez, Irene Díez García-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El‐Akouri, Mariam Al‐Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez‐Lara, John M. Graham, Amy E. Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari‐Tiri, Tracy Dudding‐Byth, Anamaria Richardson, David Hunt, Laura S. Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolás Rodríguez, Rosario Sánchez‐Martínez, Jair Tenorio, Julián Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, Ping Yee Billie Au, Rosanna Weksberg

2022The American Journal of Human Genetics36 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationBiologydNaMPhenotypeGeneticsEpigeneticsLoss functionDNA methylationGeneGene expressionGenomics and Rare DiseasesEpigenetics and DNA MethylationGenomic variations and chromosomal abnormalities