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Page 1
Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC. Talkowski ME, et al. Among authors: rosenfeld ja. N Engl J Med. 2012 Dec 6;367(23):2226-32. doi: 10.1056/NEJMoa1208594. N Engl J Med. 2012. PMID: 23215558 Free PMC article.
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. Among authors: rosenfeld ja. 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.
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
Duker AL, Ballif BC, Bawle EV, Person RE, Mahadevan S, Alliman S, Thompson R, Traylor R, Bejjani BA, Shaffer LG, Rosenfeld JA, Lamb AN, Sahoo T. Duker AL, et al. Among authors: rosenfeld ja. Eur J Hum Genet. 2010 Nov;18(11):1196-201. doi: 10.1038/ejhg.2010.102. Epub 2010 Jun 30. Eur J Hum Genet. 2010. PMID: 20588305 Free PMC article.
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Kauvar EF, Hu P, Pineda-Alvarez DE, Solomon BD, Dutra A, Pak E, Blessing B, Proud V, Shanske AL, Stevens CA, Rosenfeld JA, Shaffer LG, Roessler E, Muenke M. Kauvar EF, et al. Among authors: rosenfeld ja. Mol Genet Metab. 2011 Apr;102(4):470-80. doi: 10.1016/j.ymgme.2010.12.008. Epub 2010 Dec 21. Mol Genet Metab. 2011. PMID: 21227728 Free PMC article.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Talkowski ME, et al. Among authors: rosenfeld ja. Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011. Am J Hum Genet. 2011. PMID: 21981781 Free PMC article.
546 results