A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells(vol 32, 324, 2024 )

Zain Awamleh,Sanaa Choufani,Wendy Wu,Dmitrijs Rots, Alexander J. M. Dingemans,Nael Nadif Kasri, Susana Boronat,Salvador Ibanez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martinez Carrascal,Luis A. Perez-Jurado, Gemma Aznar Lain,Juan Dario Ortigoza-Escobar,Bert B. A. de Vries,David A. Koolen,Rosanna Weksberg

EUROPEAN JOURNAL OF HUMAN GENETICS(2024)

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