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Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Boone PM, Erdin S, Mohamed A, Haghshenas S, Faour KNW, Kao E, Fu J, Auwerx C, Harripaul R, Jana B, Springer D, Hallstrom G, de Esch CEF, Denhoff E, Holmes L, Mohajeri K, Lemanski J, Kerkhof J, McConkey H, Rzasa J, McCune MJ, Levy MA, Grafstein J, Larson M, Wright Z, Beauchamp RL, Lucente D, Jamra RA, Agrawal N, Agrawal PB, Andersen EF, Argilli E, Araiza R, Ballal S, Baxter MF, Bergant G, Bertsche A, Bhavsar R, Bortola DR, Bothe V, Brasch-Andersen C, Braun D, Bruel AL, Buchanan C, Burt ND, Carvalho LML, Chiriatti L, Cogne B, Collins R, Crunk A, Currall B, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Devriendt K, Domingo A, Duncan L, Faivre L, Famularo L, Fulton A, Genetti CA, Harel T, Havlovicova M, Higgs J, Houlier M, Iascone M, Immken L, Isidor B, Kaiser FJ, Karbone K, Kenna M, Khan A, Kimmig LK, Kleefstra T, Kraus EM, Krepischi ACV, Krey I, Ladda RL, Lanoue L, Le Caignec C, Lewis ZK, Lima G, Lynch SA, Macek M Jr, Maier O, Maitz S, Male A, Malikova M, McKay V, Moldovan O, Monteil D, Oliveira MM, Munasinghe J, Nakamori S, Neuser S, Nizon M, Nuttle X, O'Keefe K, Orec L, Parenti I, Peterlin B, Pfundt R, Pouncey J, Radio FC, Robert L, Rodan L, Rosenberg-Fogler H, Rosenfeld JA, Sa… See abstract for full author list ➔ Boone PM, et al. Among authors: shearer ae. Am J Hum Genet. 2026 Aug 6;113(8):1691-1718. doi: 10.1016/j.ajhg.2026.06.012. Epub 2026 Jul 10. Am J Hum Genet. 2026. PMID: 42431198
Genetic Hearing Loss Overview.
Shearer AE, Hildebrand MS, Odell AM, Smith RJH. Shearer AE, et al. 1999 Feb 14 [updated 2026 Jun 2]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 1999 Feb 14 [updated 2026 Jun 2]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301607 Free Books & Documents. Review.
DB-OTO Gene Therapy for Inherited Deafness.
Valayannopoulos V, Bance M, Carvalho DS, Greinwald JH Jr, Harvey SA, Ishiyama A, Landry EC, Löwenheim H, Lustig LR, Manrique M, Nash R, Polo R, Pritchett CV, Rubinstein JT, Shearer AE, Del Castillo I, Anderson JJ, Corrales CE, Quigley TM, Riggs WJ, Weber P, Wilson G, Irvin SC, Hassan HE, Chen Y, Liu R, Drummond MC, Sabin LR, Musser BJ, Yancopoulos GD, Kyratsous CA, Herman GA, Baras A, Whitton JP; CHORD Study Group. Valayannopoulos V, et al. Among authors: shearer ae. N Engl J Med. 2026 Mar 12;394(11):1074-1083. doi: 10.1056/NEJMoa2400521. Epub 2025 Oct 12. N Engl J Med. 2026. PMID: 41085057 Clinical Trial.
Endocochlear potential contributes to hair cell death in TMPRSS3 hearing loss.
Shearer AE, Chen YS, Rouse SL, Wang X, Marin Fermin J, Booth KT, Moawad J, Libiran NB, Li J, Kim HY, Hoa M, Olszewski R, Lei JY, Cabrera E, Totten DJ, Zhao B, Holt JR, Nelson RF. Shearer AE, et al. J Clin Invest. 2025 Jul 17;135(18):e186395. doi: 10.1172/JCI186395. eCollection 2025 Sep 16. J Clin Invest. 2025. PMID: 40674144 Free PMC article.
Sex Differences in B Cells From the Joints of Children With Oligoarticular Juvenile Idiopathic Arthritis.
Lam KP, Harris C, Taylor ML, Fernandez-Salinas D, Cui J, Issac B, Sun L, Raman I, Zhu C, Hahn M, Ashoor M, Bakhsh A, Bryant MC, Case S, Chandler M, Chang JC, Cohen E, Dedeoglu F, Halyabar O, Hausmann JS, Hazen M, Ibanez D, Kim L, Lo J, Lo MS, Meidan E, Perron M, Powers H, Son MB, Wobma H, Janssen E, Lee PY, Nigrovic PA, Ohlms L, Shearer AE, Chang MH, Gutierrez-Arcelus M, Henderson LA. Lam KP, et al. Among authors: shearer ae. Arthritis Rheumatol. 2025 Aug;77(8):1092-1105. doi: 10.1002/art.43157. Epub 2025 May 21. Arthritis Rheumatol. 2025. PMID: 40098343 Free PMC article.
91 results