Publication
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
Michael S. Breen, Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman, Anna S. Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M. Powell, Jonathan A. Bernstein, Alexander Kolevzon, Joseph D. Buxbaum, Simon K. Warfield, Benoit Scherrer, Rajna Filip-Dhima, Kira Dies, Paige Siper, Ellen Hanson, Jennifer M. Phillips
Human Genetics and Genomics Advances, January 2023, Elsevier
DOI: 10.1016/j.xhgg.2022.100145