Allele-specific regulation of DISC1 expression by miR-135b-5p

Por Rossi, Mari, Kilpinen, Helena, Muona, Mikko, Surakka, Ida, Ingle, Catherine, Lahtinen, Jenni, Hennah, William, Ripatti, Samuli, Hovatta, Iiris
Publicado em 2014

Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Por Smith, Erica D., Radtke, Kelly, Rossi, Mari, Shinde, Deepali N., Darabi, Sourat, El‐Khechen, Dima, Powis, Zöe, Helbig, Katherine, Waller, Kendra, Grange, Dorothy K., Tang, Sha, Farwell Hagman, Kelly D.
Publicado no Hum Mutat (2017)

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Por Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L., Sajan, Samin A., Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E., Tang, Sha
Publicado no Genet Med (2017)

Analysis of X chromosome inactivation in autism spectrum disorders

Por Gong, Xiaohong, Bacchelli, Elena, Blasi, Francesca, Toma, Claudio, Betancur, Catalina, Chaste, Pauline, Delorme, Richard, Durand, Christelle, Fauchereau, Fabien, Botros, Hany Goubran, Leboyer, Marion, Mouren-Simeoni, Marie-Christine, Nygren, Gudrun, Anckarsäter, Henrik, Rastam, Maria, Gillberg, I Carina, Gillberg, Christopher, Moreno-De-Luca, Daniel, Carone, Simona, Nummela, Ilona, Rossi, Mari, Battaglia, Agatino, Jarvela, Irma, Maestrini, Elena, Bourgeron, Thomas
Publicado no Am J Med Genet B Neuropsychiatr Genet (2008)