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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG. Ballif BC, et al. Among authors: brock pl. Nat Genet. 2007 Sep;39(9):1071-3. doi: 10.1038/ng2107. Epub 2007 Aug 19. Nat Genet. 2007. PMID: 17704777
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA 3rd, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG. Ballif BC, et al. Am J Hum Genet. 2010 Mar 12;86(3):454-61. doi: 10.1016/j.ajhg.2010.01.038. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206336 Free PMC article.
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.
Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, Vasudevan PC, Cresswell L, Taylor EJ, Harris CJ, Friedman N, Moran R, Feret H, Zackai EH, Theisen A, Rosenfeld JA, Parker MJ. Balasubramanian M, et al. J Med Genet. 2011 May;48(5):290-8. doi: 10.1136/jmg.2010.084491. Epub 2011 Feb 22. J Med Genet. 2011. PMID: 21343628 Free article.
Neurotransmitter abnormalities and response to supplementation in SPG11.
Vanderver A, Tonduti D, Auerbach S, Schmidt JL, Parikh S, Gowans GC, Jackson KE, Brock PL, Patterson M, Nehrebecky M, Godfrey R, Zein WM, Gahl W, Toro C. Vanderver A, et al. Among authors: brock pl. Mol Genet Metab. 2012 Sep;107(1-2):229-33. doi: 10.1016/j.ymgme.2012.05.020. Epub 2012 Jun 1. Mol Genet Metab. 2012. PMID: 22749184 Free PMC article.
Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D.
Nieminen TT, Walker CJ, Olkinuora A, Genutis LK, O'Malley M, Wakely PE, LaGuardia L, Koskenvuo L, Arola J, Lepistö AH, Brock P, Yilmaz AS, Eisfeld AK, Church JM, Peltomäki P, de la Chapelle A. Nieminen TT, et al. Thyroid. 2020 Mar;30(3):380-388. doi: 10.1089/thy.2019.0561. Thyroid. 2020. PMID: 32024448 Free PMC article.
32 results