Publication
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
Halie J. May, Jaehoon Jeong, Anya Revah-Politi, Julie S. Cohen, Anna Chassevent, Julia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria resa Te Carminho A. Rodrigues, Charles Conlon, Joel Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith-Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane-Yeboa
Genetics in Medicine, October 2021, Elsevier
DOI: 10.1038/s41436-021-01222-w