A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine

The American Journal of Human Genetics 2026 Open access

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Authors: Mengqi Wang, Shaimaa Helal, Arteen Torabi‐Marashi, Sarah Goodman, Prajkta Kallurkar, Tina K. Truong, Emma Mizrahi-Powell, Gilad D. Evrony, Inara Chacon-Fonseca, Irene Valenzuela Palafoll, Peter Kannu, Amélie Piton
+15 more D C Chitayat, Cornelius F. Boerkoel, Roberto Mendoza‐Londono, Juan Darío Ortigoza‐Escobar, Michael Kwint, Dmitrijs Rots, Tjitske Kleefstra, Monica H. Wojcik, Stephen W. Scherer, Brian Hon‐Yin Chung, Jung Min Ko, Hans Tomas Bjornsson, Jacqueline R. Harris, Sanaa Choufani, Rosanna Weksberg
DOI: 10.1016/j.ajhg.2026.04.010
Cited by: 1
References: 81

Fields of Study & Subjects

Genomics and Rare Diseases Biomedical Text Mining and Ontologies Genomics and Phylogenetic Studies

Publication details

Journal / source
The American Journal of Human Genetics
Publisher
Elsevier BV
Volume
113
Issue
6
Pages
1233–1252
Publication date
13 May 2026
Language
EN