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Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Belnap N, Price-Smith A, Ramsey K, Leka K, Abraham A, Lieberman E, Hassett K, Potu S, Rudy N, Smith K, Mikhail FM, Monaghan KG, Hendershot A, Mourmans J, Descartes M, Huentelman MJ, Sills J, Rangasamy S, Narayanan V. Belnap N, et al. Among authors: smith k. Clin Genet. 2023 Nov;104(5):607-609. doi: 10.1111/cge.14408. Epub 2023 Jul 25. Clin Genet. 2023. PMID: 37491870
Keratoconus in a patient with B3GALT6-related disorder.
Descartes M, Melenevsky YV, Rudy N, Smith K, Callaway K, Parker JS. Descartes M, et al. Among authors: smith k. Clin Genet. 2021 Jun;99(6):849-850. doi: 10.1111/cge.13940. Epub 2021 Feb 25. Clin Genet. 2021. PMID: 33631843 No abstract available.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Angelozzi M, et al. Among authors: smith k. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. J Med Genet. 2022. PMID: 35232796 Free PMC article.
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Sörmann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, Fischer J, Gardham A, Lahner C, Mark PR, Muppidi S, Pichurin PN, Porrmann J, Schallner J, Smith K, Straub V, Vasudevan P, Willaert R, Carpenter EP, Rödström KEJ, Hahn MG, Müller T, Baukrowitz T, Hurles ME, Wright CF, Tucker SJ. Sörmann J, et al. Among authors: smith k. Nat Genet. 2022 Oct;54(10):1534-1543. doi: 10.1038/s41588-022-01185-x. Epub 2022 Oct 4. Nat Genet. 2022. PMID: 36195757 Free PMC article.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: smith w, smith k, smith acm. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
Risk of Seizure Recurrence Due to Autoimmune Encephalitis With NMDAR, LGI1, CASPR2, and GABABR Antibodies: Implications for Return to Driving.
Rada A, Hagemann A, Aaberg Poulsen C, Baumgartner T, Berki T, Blaabjerg M, Brenner J, Britton JW, Christiana A, Ciano-Petersen NL, Crijnen Y, Elišák M, Farina A, Friedman AR, Hayden Z, Hébert J, Holtkamp M, Hong Z, Honnorat J, Ilyas-Feldmann M, Irani SR, Kovac S, Marusic P, Muñiz-Castrillo S, Ramanathan S, Smith KM, Steriade C, Strippel C, Surges R, Titulaer MJ, Uy CE, de Vries JM, Bien CG, Specht U. Rada A, et al. Among authors: smith km. Neurol Neuroimmunol Neuroinflamm. 2024 Jul;11(4):e200225. doi: 10.1212/NXI.0000000000200225. Epub 2024 Jun 4. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 38838283
Outbreak of Human Trichinellosis - Arizona, Minnesota, and South Dakota, 2022.
Cash-Goldwasser S, Ortbahn D, Narayan M, Fitzgerald C, Maldonado K, Currie J, Straily A, Sapp S, Bishop HS, Watson B, Neja M, Qvarnstrom Y, Berman DM, Park SY, Smith K, Holzbauer S. Cash-Goldwasser S, et al. Among authors: smith k. Can Commun Dis Rep. 2024 May 24;50(5):153-157. doi: 10.14745/ccdr.v50i05a05. eCollection 2024 May 24. Can Commun Dis Rep. 2024. PMID: 38835504 Free PMC article.
Combining CD40 agonist mitazalimab with mFOLFIRINOX in previously untreated metastatic pancreatic ductal adenocarcinoma (OPTIMIZE-1): a single-arm, multicentre phase 1b/2 study.
Van Laethem JL, Borbath I, Prenen H, Geboes KP, Lambert A, Mitry E, Cassier PA, Blanc JF, Pilla L, Batlle JF, Garrote MR, Pazo-Cid RA, Gallego I, Smith KE, Ellmark P, Pico de Coaña Y, Ambarkhane SV, Macarulla T. Van Laethem JL, et al. Among authors: smith ke. Lancet Oncol. 2024 May 31:S1470-2045(24)00263-8. doi: 10.1016/S1470-2045(24)00263-8. Online ahead of print. Lancet Oncol. 2024. PMID: 38834087
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