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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: kenna m. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B. Redfield SE, et al. Among authors: kenna ma. Hum Genet. 2024 Mar;143(3):311-329. doi: 10.1007/s00439-024-02649-2. Epub 2024 Mar 9. Hum Genet. 2024. PMID: 38459354 Free PMC article.
PKHD1L1, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss.
Redfield SE, De-la-Torre P, Zamani M, Wang H, Khan H, Morris T, Shariati G, Karimi M, Kenna MA, Seo GH, Xu H, Lu W, Naz S, Galehdari H, Indzhykulian AA, Shearer AE, Vona B. Redfield SE, et al. Among authors: kenna ma. medRxiv [Preprint]. 2023 Dec 19:2023.10.08.23296081. doi: 10.1101/2023.10.08.23296081. medRxiv. 2023. PMID: 37873491 Free PMC article. Updated. Preprint.
Vestibular Preservation in Pediatric Cochlear Implantation.
Licameli GR, Wang A, Zhou G, Faller D, Kenna M, Poe D, Shearer E, Oster L, Brodsky JR. Licameli GR, et al. Among authors: kenna m. Laryngoscope. 2024 Apr;134(4):1913-1918. doi: 10.1002/lary.30978. Epub 2023 Aug 16. Laryngoscope. 2024. PMID: 37584403
Congenital Cytomegalovirus Screening in Massachusetts Birth Hospitals: A Statewide Survey.
Glovsky CK, Carroll K, Clark N, Colleran P, Colleran V, Gaffney S, Kenna M, Kuhns-Rankin E, Luiselli TE, Mango T, Morris B, Mullen C, Stenerson M, Gibson L, Cohen MS. Glovsky CK, et al. Among authors: kenna m. Int J Neonatal Screen. 2022 Dec 13;8(4):65. doi: 10.3390/ijns8040065. Int J Neonatal Screen. 2022. PMID: 36547382 Free PMC article.
190 results