Yazar "Happe, Scott" için WoS İndeksli Yayınlar Koleksiyonu listeleme
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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
Shearer, Aiden Eliot; Eppsteiner, Robert W.; Booth, Kevin T.; Ephraim, Sean S.; Gurrola, Jose, II; Simpson, Allen; Black-Ziegelbein, E. Ann; Joshi, Swati; Ravi, Harini; Giuffre, Angelica C.; Happe, Scott; Hildebrand, Michael S.; Azaiez, Hela; Bayazıt, Yıldırım Ahmet; Erdal, Mehmet Emin; Lopez-Escamez, Jose Antonio; Gazquez, Irene; Tamayo, Marta L.; Gelvez, Nancy Yaneth; 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. (Cell Press, 2014)Ethnic-specific differences in minor allele frequency impact variant categorization for genetic screening of nonsyndromic hearing loss (NSHL) and other genetic disorders. We sought to evaluate all previously reported ...