SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct

Por Ito, Taku, Muskett, Julie, Chattaraj, Parna, Choi, Byung Yoon, Lee, Kyu Yup, Zalewski, Christopher K, King, Kelly A, Li, Xiangming, Wangemann, Philine, Shawker, Thomas, Brewer, Carmen C, Alper, Seth L, Griffith, Andrew J
Publicado no World J Otorhinolaryngol (2013)

SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

Por Ito, Taku, Choi, Byung Yoon, King, Kelly A., Zalewski, Christopher K., Muskett, Julie, Chattaraj, Parna, Shawker, Thomas, Reynolds, James C., Butman, John A., Brewer, Carmen C., Wangemann, Philine, Alper, Seth L., Griffith, Andrew J.
Publicado em 2011

Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography

Por Zein, Wadih M., Falsini, Benedetto, Tsilou, Ekaterina T., Turriff, Amy E., Schultz, Julie M., Friedman, Thomas B., Brewer, Carmen C., Zalewski, Christopher K., King, Kelly A., Muskett, Julie A., Rehman, Atteeq U., Morell, Robert J., Griffith, Andrew J., Sieving, Paul A.
Publicado no Invest Ophthalmol Vis Sci (2015)

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct

Por Muskett, Julie A., Chattaraj, Parna, Heneghan, John F., Reimold, Fabian R., Shmukler, Boris E., Brewer, Carmen C., King, Kelly A., Zalewski, Christopher K., Shawker, Thomas H., Butman, John A., Kenna, Margaret A., Chien, Wade W., Alper, Seth L., Griffith, Andrew J.
Publicado no Laryngoscope (2015)

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy

Por Nakanishi, Hiroshi, Kawashima, Yoshiyuki, Kurima, Kiyoto, Chae, Jae Jin, Ross, Astin M., Pinto-Patarroyo, Gineth, Patel, Seema K., Muskett, Julie A., Ratay, Jessica S., Chattaraj, Parna, Park, Yong Hwan, Grevich, Sriharsha, Brewer, Carmen C., Hoa, Michael, Kim, H. Jeffrey, Butman, John A., Broderick, Lori, Hoffman, Hal M., Aksentijevich, Ivona, Kastner, Daniel L., Goldbach-Mansky, Raphaela, Griffith, Andrew J.
Publicado no Proc Natl Acad Sci U S A (2017)