Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection

Por Risch, Neil, Tang, Hua, Katzenstein, Howard, Ekstein, Josef
Publicado em 2003

High-Throughput Carrier Screening Using TaqMan Allelic Discrimination

Por Fedick, Anastasia, Su, Jing, Jalas, Chaim, Northrop, Lesley, Devkota, Batsal, Ekstein, Josef, Treff, Nathan R.
Publicado em 2013

Familial Dysautonomia Is Caused by Mutations of the IKAP Gene

Por Anderson, Sylvia L., Coli, Rocco, Daly, Ira W., Kichula, Elizabeth A., Rork, Matthew J., Volpi, Sabrina A., Ekstein, Josef, Rubin, Berish Y.
Publicado em 2001

Splice Site, Frameshift and Chimeric GFAP Mutations in Alexander Disease

Por Flint, Daniel, Li, Rong, Webster, Lital S., Naidu, Sakkubai, Kolodny, Edwin, Percy, Alan, van der Knaap, Marjo, Powers, James M., Mantovani, John F., Ekstein, Josef, Goldman, James E., Messing, Albee, Brenner, Michael
Publicado em 2012

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

Por Shearer, A. Eliot, Eppsteiner, Robert W., Booth, Kevin T., Ephraim, Sean S., Gurrola, José, Simpson, Allen, Black-Ziegelbein, E. Ann, Joshi, Swati, Ravi, Harini, Giuffre, Angelica C., Happe, Scott, Hildebrand, Michael S., Azaiez, Hela, Bayazit, Yildirim A., Erdal, Mehmet Emin, Lopez-Escamez, Jose A., Gazquez, Irene, Tamayo, Marta L., Gelvez, Nancy Y., Leal, Greizy Lopez, Jalas, Chaim, Ekstein, Josef, Yang, Tao, Usami, Shin-ichi, Kahrizi, Kimia, Bazazzadegan, Niloofar, Najmabadi, Hossein, Scheetz, Todd E., Braun, Terry A., Casavant, Thomas L., LeProust, Emily M., Smith, Richard J.H.
Publicado em 2014