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661 results

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Page 1
The spectrum of brain malformations and disruptions in twins.
Park KB, Chapman T, Aldinger KA, Mirzaa GM, Zeiger J, Beck A, Glass IA, Hevner RF, Jansen AC, Marshall DA, Oegema R, Parrini E, Saneto RP, Curry CJ, Hall JG, Guerrini R, Leventer RJ, Dobyns WB. Park KB, et al. Am J Med Genet A. 2021 Sep;185(9):2690-2718. doi: 10.1002/ajmg.a.61972. Epub 2020 Nov 18. Am J Med Genet A. 2021. PMID: 33205886 Free PMC article.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Aldinger KA, et al. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. Am J Hum Genet. 2019. PMID: 31474318 Free PMC article.
A unique cardiovascular presentation of Marfan syndrome.
Otero Luna A, Park KB, Schauer J, Castera M, Quintana Grijalba C, Chikkabyrappa SM, Tjoeng YL, Romberg EK, Olson A, Glass IA, Young L. Otero Luna A, et al. Among authors: park kb. Am J Med Genet A. 2022 Aug;188(8):2443-2447. doi: 10.1002/ajmg.a.62865. Epub 2022 Jun 9. Am J Med Genet A. 2022. PMID: 35679177
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. Alcantara D, et al. Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203. Brain. 2017. PMID: 28969385 Free PMC article.
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB. Mirzaa G, et al. JCI Insight. 2016 Jun 16;1(9):e87623. doi: 10.1172/jci.insight.87623. JCI Insight. 2016. PMID: 27631024 Free PMC article.
Bibliometric analysis of myelomeningocele management: National disease burden versus publication volume.
Shao B, Harlyjoy A, Kozel OA, Still ME, Widodo SB, Agwu C, Sagaityte E, Schroeder C, Gilder HE, Hamzah R, Sun FW, Feler JR, Santos S, Sawyer K, Svokos KA, Klinge PM, Johnson W, Baticulon RE, Park KB. Shao B, et al. Among authors: park kb. World Neurosurg. 2024 Nov 19:S1878-8750(24)01886-2. doi: 10.1016/j.wneu.2024.11.027. Online ahead of print. World Neurosurg. 2024. PMID: 39571894
Mapping the global neurosurgery workforce. Part 2: Trainee density.
Gupta S, Gal ZT, Athni TS, Calderon C, Callison WÉ, Dada OE, Lie W, Qian C, Reddy R, Rolle M, Baticulon RE, Chaurasia B, Dos Santos Rubio EJ, Esquenazi Y, Golby AJ, Pirzad AF, Park KB; WFNS Global Neurosurgery Committee; EANS Global and Humanitarian Neurosurgery Committee; CAANS Executive Leadership Committee. Gupta S, et al. Among authors: park kb. J Neurosurg. 2024 Jan 16;141(1):10-16. doi: 10.3171/2023.9.JNS231616. Print 2024 Jul 1. J Neurosurg. 2024. PMID: 39508227
661 results