Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.A K Ryan, Peter Scambler, A. Lévy et al.|Journal of Medical Genetics|1997Cited by 1.2k
A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALSZeynep Tümer, Karen Brøndum‐Nielsen, Birgitte Bertelsen et al.|Neurobiology of Aging|2011Cited by 49