DNA Methylation Analysis in Patients with Neurodevelopmental Disorders Improves Variant Interpretation and Reveals Complexity.
Slavica Trajkova,Jennifer Kerkhof,Matteo Rossi Sebastiano,Lisa Pavinato,Enza Ferrero,Chiara Giovenino,Diana Carli,Eleonora Di Gregorio, Roberta Marinoni,Giorgia Mandrile,Flavia Palermo,Silvia Carestiato,Simona Cardaropoli,Verdiana Pullano,Antonina Rinninella,Elisa Giorgio,Tommaso Pippucci,Paola Dimartino,Jessica Rzasa,Kathleen Rooney,Haley McConkey,Aleksandar Petlichkovski,Barbara Pasini,Elena Sukarova-Angelovska,Christopher M. Campbell,Kay Metcalfe,Sarah Jenkinson,Siddharth Banka,Alessandro Mussa,Giovanni Battista Ferrero,Bekim Sadikovic,Alfredo Brusco Human Genetics and Genomics Advances(2024)
Key words
Episignatures,neurodevelopmental disorders,BAFopathy,Coffin-Siris,DNA methylation
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