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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Among authors: goldstein db. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
Ethical challenges in genotype-driven research recruitment.
Beskow LM, Linney KN, Radtke RA, Heinzen EL, Goldstein DB. Beskow LM, et al. Among authors: goldstein db. Genome Res. 2010 Jun;20(6):705-9. doi: 10.1101/gr.104455.109. Epub 2010 Apr 23. Genome Res. 2010. PMID: 20418491 Free PMC article. No abstract available.
Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery.
Catarino CB, Kasperavičiūtė D, Thom M, Cavalleri GL, Martinian L, Heinzen EL, Dorn T, Grunwald T, Chaila E, Depondt C, Krämer G, Delanty N, Goldstein DB, Sisodiya SM. Catarino CB, et al. Among authors: goldstein db. Epilepsia. 2011 Aug;52(8):1388-92. doi: 10.1111/j.1528-1167.2011.03087.x. Epub 2011 Jun 2. Epilepsia. 2011. PMID: 21635232 Free PMC article.
545 results