DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

por Booth, Kevin T., Azaiez, Hela, Smith, Richard J. H.
Publicado 2020

Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective

por Booth, Kevin T., Azaiez, Hela, Jahan, Israt, Smith, Richard J. H., Fritzsch, Bernd
Publicado 2018

Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss

por Booth, Kevin T., Hirsch, Yoel, Vardaro, Anna C., Ekstein, Josef, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Corey, David P.
Publicado 2021

Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids

por Tang, Pei-Ciao, Alex, Alpha L., Nie, Jing, Lee, Jiyoon, Roth, Adam A., Booth, Kevin T., Koehler, Karl R., Hashino, Eri, Nelson, Rick F.
Publicado 2019

Long-Term Extensions of Randomized Vaccination Trials of ACC-001 and QS-21 in Mild to Moderate Alzheimer’s Disease

por Hüll, Michael, Sadowsky, Carl, Arai, Heii, Leterme, Ghislaine Le Prince, Holstein, Ann, Booth, Kevin, Peng, Yahong, Yoshiyama, Tamotsu, Suzuki, Hideo, Ketter, Nzeera, Liu, Enchi, Ryan, J. Michael
Publicado 2017

Long-term safety and tolerability of bapineuzumab in patients with Alzheimer’s disease in two phase 3 extension studies

por Ivanoiu, Adrian, Pariente, Jérémie, Booth, Kevin, Lobello, Kasia, Luscan, Gerald, Hua, Lisa, Lucas, Prisca, Styren, Scot, Yang, Lingfeng, Li, David, Black, Ronald S., Brashear, H. Robert, McRae, Thomas
Publicado 2016

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

por Booth, Kevin T., Askew, James W., Talebizadeh, Zohreh, Huygen, Patrick L. M., Eudy, James, Kenyon, Judith, Hoover, Denise, Hildebrand, Michael S., Smith, Katherine R., Bahlo, Melanie, Kimberling, William J., Smith, Richard J. H., Azaiez, Hela, Smith, Shelley D.
Publicado 2018

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

por Hirsch, Yoel, Chung, Wendy K., Novoselov, Sergey, Weimer, Louis H., Rossor, Alexander, LeDuc, Charles A., McPartland, Amanda J., Cabrera, Ernesto, Ekstein, Josef, Scher, Sholem, Nelson, Rick F., Schiavo, Giampietro, Henderson, Lindsay B., Booth, Kevin T. A.
Publicado 2023

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

Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F

por Ivanchenko, Maryna V., Hathaway, Daniel M., Klein, Alex J., Pan, Bifeng, Strelkova, Olga, De-la-Torre, Pedro, Wu, Xudong, Peters, Cole W., Mulhall, Eric M., Booth, Kevin T., Goldstein, Corey, Brower, Joseph, Sotomayor, Marcos, Indzhykulian, Artur A., Corey, David P.
Publicado 2023

HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice

por Azaiez, Hela, Decker, Amanda R., Booth, Kevin T., Simpson, Allen C., Shearer, A. Eliot, Huygen, Patrick L. M., Bu, Fengxiao, Hildebrand, Michael S., Ranum, Paul T., Shibata, Seiji B., Turner, Ann, Zhang, Yuzhou, Kimberling, William J., Cornell, Robert A., Smith, Richard J. H.
Publicado 2015

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

por Morín, Matias, Borreguero, Lucía, Booth, Kevin T, Lachgar, María, Huygen, Patrick, Villamar, Manuela, Mayo, Fernando, Barrio, Luis Carlos, Santos Serrão de Castro, Luciana, Morales, Carmelo, del Castillo, Ignacio, Arellano, Beatriz, Tellería, Dolores, Smith, Richard J. H., Azaiez, Hela, Moreno Pelayo, M. A.
Publicado 2020

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

Bapineuzumab for mild to moderate Alzheimer’s disease in two global, randomized, phase 3 trials

por Vandenberghe, Rik, Rinne, Juha O., Boada, Mercè, Katayama, Sadao, Scheltens, Philip, Vellas, Bruno, Tuchman, Michael, Gass, Achim, Fiebach, Jochen B., Hill, Derek, Lobello, Kasia, Li, David, McRae, Tom, Lucas, Prisca, Evans, Iona, Booth, Kevin, Luscan, Gerald, Wyman, Bradley T., Hua, Lisa, Yang, Lingfeng, Brashear, H. Robert, Black, Ronald S.
Publicado 2016

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

por Michel, Vincent, Booth, Kevin T, Patni, Pranav, Cortese, Matteo, Azaiez, Hela, Bahloul, Amel, Kahrizi, Kimia, Labbé, Ménélik, Emptoz, Alice, Lelli, Andrea, Dégardin, Julie, Dupont, Typhaine, Aghaie, Asadollah, Oficjalska‐Pham, Danuta, Picaud, Serge, Najmabadi, Hossein, Smith, Richard J, Bowl, Michael R, Brown, Steven DM, Avan, Paul, Petit, Christine, El‐Amraoui, Aziz
Publicado 2017

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

por DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S.
Publicado 2019

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

por Vona, Barbara, Mazaheri, Neda, Lin, Sheng-Jia, Dunbar, Lucy A., Maroofian, Reza, Azaiez, Hela, Booth, Kevin T., Vitry, Sandrine, Rad, Aboulfazl, Rüschendorf, Franz, Varshney, Pratishtha, Fowler, Ben, Beetz, Christian, Alagramam, Kumar N., Murphy, David, Shariati, Gholamreza, Sedaghat, Alireza, Houlden, Henry, Petree, Cassidy, VijayKumar, Shruthi, Smith, Richard J. H., Haaf, Thomas, El-Amraoui, Aziz, Bowl, Michael R., Varshney, Gaurav K., Galehdari, Hamid
Publicado 2021

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

por Patel, Mayher J, DiStefano, Marina T, Oza, Andrea M, Hughes, Madeline Y, Wilcox, Emma H, Hemphill, Sarah E, Cushman, Brandon J, Grant, Andrew R, Siegert, Rebecca K, Shen, Jun, Chapin, Alex, Boczek, Nicole J, Schimmenti, Lisa A, Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T, Avraham, Karen B, Kremer, Hannie, Griffith, Andrew J., Rehm, Heidi L, Amr, Sami S, Tayoun, Ahmad N Abou
Publicado 2021

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