Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases

por Mansilla, M Adela, Sompallae, Ramakrishna R, Nishimura, Carla J, Kwitek, Anne E, Kimble, Mycah J, Freese, Margaret E, Campbell, Colleen A, Smith, Richard J, Thomas, Christie P
Publicado 2019

Copy number variants are a common cause of non-syndromic hearing loss

por Shearer, A Eliot, Kolbe, Diana L, Azaiez, Hela, Sloan, Christina M, Frees, Kathy L, Weaver, Amy E, Clark, Erika T, Nishimura, Carla J, Black-Ziegelbein, E Ann, Smith, Richard J H
Publicado 2014

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

por Sloan-Heggen, Christina M., Bierer, Amanda O., Shearer, A. Eliot, Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Ephraim, Sean S., Shibata, Seiji B., Booth, Kevin T., Campbell, Colleen A., Ranum, Paul T., Weaver, Amy E., Black-Ziegelbein, E. Ann, Wang, Donghong, Azaiez, Hela, Smith, Richard J. H.
Publicado 2016

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

por Bowles, Bradley, Ferrer, Alejandro, Nishimura, Carla J., Pinto e Vairo, Filippo, Rey, Tristan, Leheup, Bruno, Sullivan, Jennifer, Schoch, Kelly, Stong, Nicholas, Agolini, Emanuele, Cocciadiferro, Dario, Williams, Abigail, Cummings, Alex, Loddo, Sara, Genovese, Silvia, Roadhouse, Chelsea, McWalter, Kirsty, Wentzensen, Ingrid M., Li, Chumei, Babovic‐Vuksanovic, Dusica, Lanpher, Brendan C., Dentici, Maria Lisa, Ankala, Arun, Hamm, J. Austin, Dallapiccola, Bruno, Radio, Francesca Clementina, Shashi, Vandana, Gérard, Benedicte, Bloch‐Zupan, Agnes, Smith, Richard J., Klee, Eric W.
Publicado 2021