Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss von Oza, Andrea M., DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Murry, Jaclyn B., Hasadsri, Linda, Nara, Kiyomitsu, Kenna, Margaret, Booth, Kevin T., Azaiez, Hela, Griffith, Andrew, Avraham, Karen B., Kremer, Hannie, Rehm, Heidi L., Amr, Sami S., Abou Tayoun, Ahmad N.

Volltext

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes von 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.

Volltext

PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models von Ivanchenko, Maryna V, Hathaway, Daniel M, Mulhall, Eric M, Booth, Kevin Ta, Wang, Mantian, Peters, Cole W, Klein, Alex J, Chen, Xinlan, Li, Yaqiao, György, Bence, Corey, David P

Volltext

ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry von Rabin, Rachel, Hirsch, Yoel, Booth, Kevin T A, Hall, Patricia L, Yachelevich, Naomi, Mistry, Pramod K, Ekstein, Josef, Pappas, John

Volltext

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

Volltext

Editorial to the Special Issue on “The molecular genetics of hearing and deafness” von Booth, Kevin T., Shearer, A. Eliot

Volltext

Human cochlear diffusion from the cerebrospinal fluid space with gadolinium contrast von Totten, Douglas J., Booth, Kevin T.A., Mosier, Kristine M., Cumpston, Evan C., Whitted, Cody, Okechuku, Vanessa, Koontz, Nicholas A., Nelson, Rick F.

Volltext

Exonic mutations and exon skipping: Lessons learned from DFNA5 von Booth, Kevin T., Azaiez, Hela, Kahrizi, Kimia, Wang, Donghong, Zhang, Yuzhou, Frees, Kathy, Nishimura, Carla, Najmabadi, Hossein, Smith, Richard J

Volltext

A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss von Kazemi, Negar, Rezvani Rezvandeh, Raziye, Zare Ashrafi, Farzane, Shokouhian, Ebrahim, Edizadeh, Masoud, Booth, Kevin T A, Kahrizi, Kimia, Najmabadi, Hossein, Mohseni, Marzieh

Volltext

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice von 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

Volltext

DFNA5 ( GSDME ) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot? von Booth, Kevin T, Azaiez, Hela, Smith, Richard J H

Volltext

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

Volltext

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

Volltext

Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii) von Fayette, Melissa A., Booth, Kevin T.A., Lynnes, Ty C., Luna, Carolina, Minich, David J., Wilson, Theodore E., Miller, Marcus J.

Volltext

Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids von Tang, Pei-Ciao, Alex, Alpha L., Nie, Jing, Lee, Jiyoon, Roth, Adam A., Booth, Kevin T., Koehler, Karl R., Hashino, Eri, Nelson, Rick F.

Volltext

Genetic etiology of hearing loss in Iran von Babanejad, Mojgan, Beheshtian, Maryam, Jamshidi, Fereshteh, Mohseni, Marzieh, Booth, Kevin T., Kahrizi, Kimia, Najmabadi, Hossein

Volltext

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

Volltext

ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric Cancer von Booth, Kevin T A, Schulte, Rachael R, Smith, Laurin, Gao, Hongyu, Stohler, Ryan A, Liu, Yunlong, Reshmi, Shalini C, Vance, Gail H

Volltext

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

Volltext

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

Volltext