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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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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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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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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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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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

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Biallelic Loss-of-Function Variants in IBICD1/I 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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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel von Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.

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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 TA

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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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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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The Alpha-defensin Test for Periprosthetic Joint Infection Outperforms the Leukocyte Esterase Test Strip von Deirmengian, Carl, Kardos, Keith, Kilmartin, Patrick, Cameron, Alexander, Schiller, Kevin, Booth, Robert E., Parvizi, Javad

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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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Acellular Normal and Fibrotic Human Lung Matrices as a Culture System for In Vitro Investigation von BOOTH, Adam J, HADLEY, Ryan, MOORE, Bethany B, MARTINEZ, Fernando J, NIKLASON, Laura E, WHITE, Eric S, CORNETT, Ashley M, DREFFS, Alyssa A, MATTHES, Stephanie A, TSUI, Jessica L, WEISS, Kevin, HOROWITZ, Jeffrey C, FIORE, Vincent F, BARKER, Thomas H

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Analysis of heterogeneity in T2-weighted MR images can differentiate pseudoprogression from progression in glioblastoma von Booth, Thomas C, Larkin, Timothy J, Yuan, Yinyin, Kettunen, Mikko I, Dawson, Sarah N, Scoffings, Daniel, Canuto, Holly C, Vowler, Sarah L, Kirschenlohr, Heide, Hobson, Michael P, Markowetz, Florian, Jefferies, Sarah, Brindle, Kevin M

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Clinical Pharmacology of Resveratrol and Its Metabolites in Colorectal Cancer Patients von PATEL, Ketan R, BROWN, Victoria A, BRENNER, Dean E, STEWARD, William P, GESCHER, Andreas J, BROWN, Karen, JONES, Donald J. L, BRITTON, Robert G, HEMINGWAY, David, MILLER, Andrew S, WEST, Kevin P, BOOTH, Tristan D, PERLOFF, Marjorie, CROWELL, James A

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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 TIGHT SQUEEZE: INTERARTERIAL COURSE OF AN ANOMALOUS RIGHT CORONARY ARTERY PRESENTING AS EPISODIC EXERTIONAL CHEST DISCOMFORT IN AN ATHLETE WITH A FIBRILLIN VARIANT OF UNKNOWN SIG... von Hsu, Kevin S., Booth, David C.

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Suicidal chemotaxis in bacteria von Oliveira, Nuno M., Wheeler, James H. R., Deroy, Cyril, Booth, Sean C., Walsh, Edmond J., Durham, William M., Foster, Kevin R.

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