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ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: weaver kn. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN. Inskeep KA, et al. Among authors: weaver kn. Am J Med Genet A. 2022 Jan;188(1):104-115. doi: 10.1002/ajmg.a.62497. Epub 2021 Sep 15. Am J Med Genet A. 2022. PMID: 34523780 Free PMC article.
Craniosynostosis is a feature of Costello syndrome.
Weaver KN, Care M, Wakefield E, Zarate YA, Skoch J, Gripp KW, Prada CE. Weaver KN, et al. Am J Med Genet A. 2022 Apr;188(4):1280-1286. doi: 10.1002/ajmg.a.62620. Epub 2021 Dec 28. Am J Med Genet A. 2022. PMID: 34964243
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. 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.
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. Baker EK, et al. Among authors: weaver kn. Am J Med Genet A. 2022 Nov;188(11):3262-3277. doi: 10.1002/ajmg.a.62946. Epub 2022 Aug 15. Am J Med Genet A. 2022. PMID: 36209351
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