Publications by authors named "Kevin Booth"

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I
Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations.
Joseph J Chin, W Daniel Walls, Kai Wang, Amanda M Odell, Diana L Kolbe, Kevin T A Booth

Hum Genet· December 2025

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Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochlea.
Maryna V Ivanchenko, Kevin T A Booth, K Domenica Karavitaki, Larisa M Antonellis, M Aurel Nagy

Nat Commun· December 2025

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Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Sara M Fielder, Marisa W Friederich, Daniella H Hock, Jessie R Zhang, Liana M Valin, Kevin T A Booth

EMBO Mol Med· October 2025

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Kevin T A Booth

Genet Med· October 2025

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Endocochlear potential contributes to hair cell death in TMPRSS3 hearing loss.
A Eliot Shearer, Yuan-Siao Chen, Stephanie L Rouse, Xiaohan Wang, Janmaris Marin Fermin, Kevin Ta Booth

J Clin Invest· September 2025

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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.
Kevin T A Booth, Sharayu V Jangam, Martin M C Chui, Kayla Treat, Lorenzo Graziani

Brain· August 2025

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Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
Sara M Fielder, Marisa W Friederich, Daniella H Hock, Jessie R Zhang, Liana M Valin, Kevin T A Booth

medRxiv· July 2025

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Intrathecal Gadolinium-Enhanced MR Cisternography Improves the Detection of Skull Base CSF Leaks.
Douglas J Totten, Nicholas A Koontz, Hunter L Elms, Evan C Cumpston, William Schneider, Kevin T Booth

Otol Neurotol· July 2025

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Kevin T A Booth

Genet Med· May 2025

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ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.
Rachel Rabin, Yoel Hirsch, Kevin T A Booth, Patricia L Hall, Naomi Yachelevich

Am J Med Genet A· March 2025

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ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric Cancer.
Kevin T A Booth, Rachael R Schulte, Laurin Smith, Hongyu Gao, Ryan A Stohler

Arch Pathol Lab Med· February 2025

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A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss.
Negar Kazemi, Raziye Rezvani Rezvandeh, Farzane Zare Ashrafi, Ebrahim Shokouhian, Masoud Edizadeh, Kevin T A Booth

Clin Genet· February 2025

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The auditory midbrain mediates tactile vibration sensing.
Erica L Huey, Josef Turecek, Michelle M Delisle, Ofer Mazor, Gabriel E Romero, Kevin T Booth

Cell· January 2025

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A Novel Candidate Gene is Associated with Autosomal Dominant Non-syndromic Hearing Loss in an Iranian Family.
Niloofar Bazazzadegan, Mojgan Babanejad, Susan Banihashemi, Sanaz Arzhangi, Kimia Kahrizi, Kevin Ta Booth

Arch Iran Med· January 2025

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Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochlea.
Maryna V Ivanchenko, Kevin T A Booth, K Domenica Karavitaki, Larisa M Antonellis, M Aurel Nagy

bioRxiv· December 2024

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PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models.
Maryna V Ivanchenko, Daniel M Hathaway, Eric M Mulhall, Kevin Ta Booth, Mantian Wang

J Clin Invest· October 2024

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The auditory midbrain mediates tactile vibration sensing.
Erica L Huey, Josef Turecek, Michelle M Delisle, Ofer Mazor, Gabriel E Romero, Kevin T Booth

bioRxiv· April 2024

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PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F.
Maryna V Ivanchenko, Daniel M Hathaway, Eric M Mulhall, Kevin T Booth, Mantian Wang

bioRxiv· November 2023

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Human cochlear diffusion from the cerebrospinal fluid space with gadolinium contrast.
Douglas J Totten, Kevin T A Booth, Kristine M Mosier, Evan C Cumpston, Cody Whitted

Mol Ther· September 2023

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

Mol Genet Metab· July 2023

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Biallelic Loss-of-Function Variants in Are Associated with Peripheral Neuropathy and Hearing Loss.
Yoel Hirsch, Wendy K Chung, Sergey Novoselov, Louis H Weimer, Alexander Rossor, Kevin T A Booth

Int J Mol Sci· May 2023

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Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.
Maryna V Ivanchenko, Daniel M Hathaway, Alex J Klein, Bifeng Pan, Olga Strelkova, Kevin T Booth

Nat Commun· April 2023

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TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.
Yuan-Siao Chen, Ernesto Cabrera, Brady J Tucker, Timothy J Shin, Jasmine V Moawad, Kevin T Booth

J Med Genet· December 2022

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Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Rachel Rabin, Yoel Hirsch, Wendy K Chung, Josef Ekstein, Ephrat Levy-Lahad, Kevin T Booth

Am J Med Genet A· October 2022

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