Solution-based targeted genomic enrichment for precious DNA samples

por Shearer, Aiden Eliot, Hildebrand, Michael S, Smith, Richard JH
Publicado 2012

Hair Cell Transduction Efficiency of Single- and Dual-AAV Serotypes in Adult Murine Cochleae

por Omichi, Ryotaro, Yoshimura, Hidekane, Shibata, Seiji B., Vandenberghe, Luk H., Smith, Richard J.H.
Publicado 2020

Monoclonal Gammopathy of Renal Significance Causes C3 Glomerulonephritis Via Monoclonal IgG Kappa Inhibition of Complement Factor H

por Johnson, Christopher K., Zuniga, Sandra Carias, Dhawale, Tejaswini, Zhang, Yuzhou, Smith, Richard J.H., Blosser, Christopher D.
Publicado 2021

IgG4-related disease in an adolescent with radiologic-pathologic correlation

por Ferreira da Silva, Renato Cesar, Lieberman, Scott M., Hoffman, Henry T., Policeni, Bruno, Bashir, Amani, Smith, Richard J.H., Sato, T. Shawn
Publicado 2016

Minimal Change Disease With Nephrotic Syndrome Associated With Coronavirus Disease 2019 After Apolipoprotein L1 Risk Variant Kidney Transplant: A Case Report

por Yamada, Masaaki, Rastogi, Prerna, Ince, Dilek, Thayyil, Abdullah, Adela Mansilla, M., Smith, Richard J.H., Kuppachi, Sarat, Thomas, Christie P.
Publicado 2020

Atypical post-infectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement

por Sethi, Sanjeev, Fervenza, Fernando C., Zhang, Yuzhou, Zand, Ladan, Meyer, Nicole C., Borsa, Nicolò, Nasr, Samih H., Smith, Richard J.H.
Publicado 2012

Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data

por Leykin, Igor, Hao, Ke, Cheng, Junsheng, Meyer, Nicole, Pollak, Martin R, Smith, Richard JH, Wong, Wing Hung, Rosenow, Carsten, Li, Cheng
Publicado 2005

Alternative Complement Pathway Inhibition With Iptacopan for the Treatment of C3 Glomerulopathy-Study Design of the APPEAR-C3G Trial

por Bomback, Andrew S., Kavanagh, David, Vivarelli, Marina, Meier, Matthias, Wang, Yaqin, Webb, Nicholas J.A., Trapani, Angelo J., Smith, Richard J.H.
Publicado 2022

Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4(-/-) mouse

por Koh, Jin-Young, Affortit, Corentin, Ranum, Paul T., West, Cody, Walls, William D., Yoshimura, Hidekane, Shao, Jian Q., Mostaert, Brian, Smith, Richard J.H.
Publicado 2023

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment

por Shearer, A Eliot, Hildebrand, Michael S, Ravi, Harini, Joshi, Swati, Guiffre, Angelica C, Novak, Barbara, Happe, Scott, LeProust, Emily M, Smith, Richard JH
Publicado 2012

RNA Interference Prevents Autosomal-Dominant Hearing Loss

por Shibata, Seiji B., Ranum, Paul T., Moteki, Hideaki, Pan, Bifeng, Goodwin, Alexander T., Goodman, Shawn S., Abbas, Paul J., Holt, Jeffrey R., Smith, Richard J.H.
Publicado 2016

Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing

por Ranum, Paul T., Goodwin, Alexander T., Yoshimura, Hidekane, Kolbe, Diana L., Walls, William D., Koh, Jin-Young, He, David Z.Z., Smith, Richard J.H.
Publicado 2019

Mutation-agnostic RNA interference with engineered replacement rescues Tmc1-related hearing loss

por Iwasa, Yoichiro, Klimara, Miles J, Yoshimura, Hidekane, Walls, William D, Omichi, Ryotaro, West, Cody A, Shibata, Seiji B, Ranum, Paul T, Smith, Richard JH
Publicado 2022

C3 Glomerulonephritis: Clinicopathologic findings, complement abnormalities, glomerular proteomic profile, treatment and follow-up

por Sethi, Sanjeev, Fervenza, Fernando C., Zhang, Yuzhou, Zand, Ladan, Vrana, Julie A, Nasr, Samih H., Theis, Jason D., Dogan, Ahmet, Smith, Richard J.H.
Publicado 2012

Rapid genome sequencing identifies novel variants in complement factor I

por Rodriguez, Katherine M., Vaught, Jordan, Dilley, Michelle, Ellsworth, Kataryzna, Heinen, Alaina, Abud, Edsel M., Zhang, Yuzhou, Smith, Richard J.H., Sheets, Robert, Geng, Bob, Hoffman, Hal M., Worthen, H. Michael, Dimmock, David, Coufal, Nicole G.
Publicado 2022

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

por Azaiez, Hela, Booth, Kevin T., Ephraim, Sean S., Crone, Bradley, Black-Ziegelbein, Elizabeth A., Marini, Robert J., Shearer, A. Eliot, Sloan-Heggen, Christina M., Kolbe, Diana, Casavant, Thomas, Schnieders, Michael J., Nishimura, Carla, Braun, Terry, Smith, Richard J.H.
Publicado 2018

Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

por BAZAZZADEGAN, Niloofar, VAZEHAN, Raheleh, FADAEE, Mahsa, FATTAHI, Zohreh, ABOLHASSANI, Ayda, PARSIMEHR, Elham, KALHOR, Zahra, FARAJI ZONOOZ, Mehrshid, AHANGARI, Fatemeh, DEHDAHSI, Shima, SAMIEE, Farshide, JAMALI, Payman, HABIBI, Haleh, NOURIZADEH, Younes, MAHDAVI, Shokouh, BEHESHTIAN, Maryam, KARIMINEJAD, Ariana, SMITH, Richard JH, NAJMABADI, Hossein
Publicado 2019

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Publicado 2014