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Chromoanasynthesis as a cause of Jacobsen syndrome.
Anzick S, Thurm A, Burkett S, Velez D, Cho E, Chlebowski C, Virtaneva K, Bruno D, Martin CB, Lang DM, Brooks B, Martens C, McDermott DH, Murphy PM. Anzick S, et al. Among authors: brooks b. Am J Med Genet A. 2020 Nov;182(11):2533-2539. doi: 10.1002/ajmg.a.61824. Epub 2020 Aug 25. Am J Med Genet A. 2020. PMID: 32841469 Free PMC article.
Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP. Huynh N, et al. Among authors: brooks bp. Am J Ophthalmol. 2013 Dec;156(6):1159-1168.e4. doi: 10.1016/j.ajo.2013.06.037. Epub 2013 Sep 5. Am J Ophthalmol. 2013. PMID: 24012100 Free PMC article.
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Vilboux T, Gahl WA, Gunay-Aygun M. Summers AC, et al. Am J Med Genet A. 2017 Jul;173(7):1796-1812. doi: 10.1002/ajmg.a.38272. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28497568 Free PMC article.
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Forsyth R, Parisi MA, Altintas B, Malicdan MC, Vilboux T, Knoll J, Brooks BP, Zein WM, Gahl WA, Toro C, Gunay-Aygun M. Forsyth R, et al. Among authors: brooks bp. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):121-130. doi: 10.1002/ajmg.c.31966. Epub 2022 Mar 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 35312150 Free PMC article.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
D'Souza P, Farmer C, Johnston JM, Han ST, Adams D, Hartman AL, Zein W, Huryn LA, Solomon B, King K, Jordan CP, Myles J, Nicoli ER, Rothermel CE, Mojica Algarin Y, Huang R, Quimby R, Zainab M, Bowden S, Crowell A, Buckley A, Brewer C, Regier DS, Brooks BP, Acosta MT, Baker EH, Vézina G, Thurm A, Tifft CJ. D'Souza P, et al. Among authors: brooks bp. Genet Med. 2024 Apr 16:101144. doi: 10.1016/j.gim.2024.101144. Online ahead of print. Genet Med. 2024. PMID: 38641994
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Doherty ES, et al. Among authors: brooks bp. Am J Med Genet A. 2007 Dec 15;143A(24):3204-15. doi: 10.1002/ajmg.a.32078. Am J Med Genet A. 2007. PMID: 18000976
1,859 results