Genetic Association Studies of Cleft Lip and/or Palate With Hypodontia Outside the Cleft Region

द्वारा Slayton, Rebecca L., Williams, Laura, Murray, Jeffrey C., Wheeler, James J., Lidral, Andrew C., Nishimura, Carla J.
प्रकाशित 2003

A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome

द्वारा Maga, Tara K., Meyer, Nicole C., Belsha, Craig, Nishimura, Carla J., Zhang, Yuzhou, Smith, Richard J. H.
में प्रकाशित Nephrol Dial Transplant (2011)

Recurrent Atypical Hemolytic Uremic Syndrome Associated with Factor I Mutation in a Living Related Renal Transplant Recipient

द्वारा Chan, Micah R., Thomas, Christie P., Torrealba, Jose R., Djamali, Arjang, Fernandez, Luis A., Nishimura, Carla J., Smith, Richard J.H., Samaniego, Millie D.
प्रकाशित 2008

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

द्वारा 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
में प्रकाशित Nephrol Dial Transplant (2019)

Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss

द्वारा Booth, Kevin T, Ghaffar, Amama, Rashid, Muhammad, Hovey, Luke T, Hussain, Mureed, Frees, Kathy, Renkes, Erika M, Nishimura, Carla J, Shahzad, Mohsin, Smith, Richard J, Ahmed, Zubair, Azaiez, Hela, Riazuddin, Saima
में प्रकाशित Hum Genet (2020)

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

द्वारा 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
प्रकाशित 2014

Is it Usher Syndrome? Collaborative Diagnosis and Molecular Genetics of Patients with Visual Impairment and Hearing Loss

द्वारा Stiff, Heather A., Sloan-Heggen, Christina M., Ko, Ashley, Pfeifer, Wanda L., Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Booth, Kevin T., Wang, Donghong, Weaver, Amy E., Azaiez, Hela, Kamholz, John, Smith, Richard J.H., Drack, Arlene V.
में प्रकाशित Ophthalmic Genet (2020)

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

द्वारा 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.
में प्रकाशित Hum Genet (2016)

A Comparative Analysis of Genetic Hearing Loss Phenotypes in European/American and Japanese Populations

द्वारा Walls, W. Daniel, Moteki, Hideaki, Thomas, Taylor R., Nishio, Shin-ya, Yoshimura, Hidekane, Iwasa, Yoichiro, Frees, Kathy L., Nishimura, Carla J., Azaiez, Hela, Booth, Kevin T., Marini, Robert J., Kolbe, Diana L., Weaver, A. Monique, Schaefer, Amanda M., Wang, Kai, Braun, Terry A., Usami, Shin-ichi, Barr-Gillespie, Peter G., Richardson, Guy P., Smith, Richard J., Casavant, Thomas L.
में प्रकाशित Hum Genet (2020)

DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss

द्वारा Hildebrand, Michael S., Morín, Matías, Meyer, Nicole C., Mayo, Fernando, Modamio-Hoybjor, Silvia, Mencía, Angeles, Olavarrieta, Leticia, Morales-Angulo, Carmelo, Nishimura, Carla J., Workman, Heather, DeLuca, Adam P., del Castillo, Ignacio, Taylor, Kyle R., Tompkins, Bruce, Goodman, Corey W., Schrauwen, Isabelle, Van Wesemael, Maarten, Lachlan, K., Shearer, A. Eliot, Braun, Terry A., Huygen, Patrick L.M., Kremer, Hannie, Van Camp, Guy, Moreno, Felipe, Casavant, Thomas L., Smith, Richard J.H., Moreno-Pelayo, Miguel A.
प्रकाशित 2011

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

द्वारा Hilgert, Nele, Huentelman, Matthew J, Thorburn, Ashley Q, Fransen, Erik, Dieltjens, Nele, Mueller-Malesinska, Malgorzata, Pollak, Agnieszka, Skorka, Agata, Waligora, Jaroslaw, Ploski, Rafal, Castorina, Pierangela, Primignani, Paola, Ambrosetti, Umberto, Murgia, Alessandra, Orzan, Eva, Pandya, Arti, Arnos, Kathleen, Norris, Virginia, Seeman, Pavel, Janousek, Petr, Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Nishimura, Carla J, Janecke, Andreas, Nekahm-Heis, Doris, Martini, Alessandro, Mennucci, Elena, Tóth, Timea, Sziklai, Istvan, del Castillo, Ignacio, Moreno, Felipe, Petersen, Michael B, Iliadou, Vasiliki, Tekin, Mustafa, Incesulu, Armagan, Nowakowska, Ewa, Bal, Jerzy, Van de Heyning, Paul, Roux, Anne-Françoise, Blanchet, Catherine, Goizet, Cyril, Lancelot, Guenaëlle, Fialho, Graça, Caria, Helena, Liu, Xue Zhong, Xiaomei, Ouyang, Govaerts, Paul, Grønskov, Karen, Hostmark, Karianne, Frei, Klemens, Dhooge, Ingeborg, Vlaeminck, Stephen, Kunstmann, Erdmute, Van Laer, Lut, Smith, Richard JH, Van Camp, Guy
प्रकाशित 2009

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

द्वारा Snoeckx, Rikkert L., Huygen, Patrick L. M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W. R. J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J. H., Van Camp, Guy
प्रकाशित 2005