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.

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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.

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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

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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

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

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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

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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.

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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.

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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.

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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

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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

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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations von 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.

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PDZD7 and hearing loss: More than just a modifier von Booth, Kevin T., Azaiez, Hela, Kahrizi, Kimia, Simpson, Allen C., Tollefson, William T.A., Sloan, Christina M., Meyer, Nicole C., Babanejad, Mojgan, Ardalani, Fariba, Arzhangi, Sanaz, Schnieders, Michael J., Najmabadi, Hossein, Smith, Richard J.H.

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Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective von Booth, Kevin T, Azaiez, Hela, Jahan, Israt, Smith, Richard J H, Fritzsch, Bernd

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Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss von Booth, Kevin T, Hirsch, Yoel, Vardaro, Anna C, Ekstein, Josef, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Corey, David P

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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

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When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS) von Mohseni, Marzieh, Akbari, Mojdeh, Booth, Kevin T, Babanejad, Mojgan, Azaiez, Hela, Ardalani, Fariba, Arzhangi, Sanaz, Jalalvand, Khadijeh, Nikzat, Nooshin, Ghodratpour, Fatemeh, Jamali, Payman, Adeli, Omid Ali, Habibi, Haleh, Kahrizi, Kimia, Najmabadi, Hossein

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Mutations in LOXHD1 Gene Cause Various Types and Severities of Hearing Loss von Mori, Kentaro, Moteki, Hideaki, Kobayashi, Yumiko, Azaiez, Hela, Booth, Kevin T., Nishio, Shin-ya, Sato, Hiroaki, Smith, Richard J. H., Usami, Shin-ichi

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De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing Loss von Moteki, Hideaki, Shearer, A. Eliot, Izumi, Shuji, Kubota, Yamato, Azaiez, Hela, Booth, Kevin T., Sloan, Christina M., Kolbe, Diana L., Smith, Richard J. H., Usami, Shin-ichi

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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.

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