A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders
Karbassi, Izabela, Maston, Glenn A., Love, Angela, DiVincenzo, Christina, Braastad, Corey D., Elzinga, Christopher D., Bright, Alison R., Previte, Domenic, Zhang, Ke, Rowland, Charles M., McCarthy, Michele, Lapierre, Jennifer L., Dubois, Felicita, Medeiros, Katelyn A., Batish, Sat Dev, Jones, Jeffrey, Liaquat, Khalida, Hoffman, Carol A., Jaremko, Malgorzata, Wang, Zhenyuan, Sun, Weimin, Buller-Burckle, Arlene, Strom, Charles M., Keiles, Steven B., Higgins, Joseph J.
Published in Human mutation (01.01.2016)
Published in Human mutation (01.01.2016)
Get full text
Journal Article
Frequency of frontotemporal dementia gene variants in C9ORF72 , MAPT , and GRN in academic versus commercial laboratory cohorts
Steele, Natasha Zr, Bright, Alison R, Lee, Suzee E, Fong, Jamie C, Bonham, Luke W, Karydas, Anna, Karbassi, Izabela D, Pribadi, Mochtar, Meservey, Marc A, Gallen, Matthew C, Ramos, Eliana Marisa, Liaquat, Khalida, Hoffman, Carol C, Krasner, Meagan R, Dodge, Whitney, L Miller, Bruce, Coppola, Giovanni, Rankin, Katherine P, Yokoyama, Jennifer S, Higgins, Joseph J
Published in Advances in genomics and genetics (01.01.2018)
Published in Advances in genomics and genetics (01.01.2018)
Get full text
Journal Article