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

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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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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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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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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

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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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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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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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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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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.

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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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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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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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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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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.

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

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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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USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms von Moteki, Hideaki, Yoshimura, Hidekane, Azaiez, Hela, Booth, Kevin T., Shearer, A. Eliot, Sloan, Christina M., Kolbe, Diana L., Murata, Toshinori, Smith, Richard J. H., Usami, Shin-ichi

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