Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Plos Genetics
Besterman, Aaron D AD; Althoff, Thorsten T; Elfferich, Peter P; Gutierrez-Mejia, Irma I; Sadik, Joshua J; Bernstein, Jonathan A JA; van Ierland, Yvette Y; Kattentidt-Mouravieva, Anja A AA; Nellist, Mark M; Abramson, Jeff J; Martinez-Agosto, Julian A JA
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Neurology. Genetics
Møller, Rikke S RS; Weckhuysen, Sarah S; Chipaux, Mathilde M; Marsan, Elise E; Taly, Valerie V; Bebin, E Martina EM; Hiatt, Susan M SM; Prokop, Jeremy W JW; Bowling, Kevin M KM; Mei, Davide D; Conti, Valerio V; de la Grange, Pierre P; Ferrand-Sorbets, Sarah S; Dorfmüller, Georg G; Lambrecq, Virginie V; Larsen, Line H G LH; Leguern, Eric E; Guerrini, Renzo R; Rubboli, Guido G; Cooper, Gregory M GM; Baulac, Stéphanie S