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Racial-ethnic differences in genetic amniocentesis uptake.
Saucier JB, Johnston D, Wicklund CA, Robbins-Furman P, Hecht JT, Monga M. Saucier JB, et al. J Genet Couns. 2005 Jun;14(3):189-95. doi: 10.1007/s10897-005-0641-5. J Genet Couns. 2005. PMID: 15959650
Cardiovascular findings in duplication 17p11.2 syndrome.
Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Jefferies JL, et al. Among authors: robbins furman pj. Genet Med. 2012 Jan;14(1):90-4. doi: 10.1038/gim.0b013e3182329723. Epub 2011 Oct 17. Genet Med. 2012. PMID: 22237436 Free PMC article.
Clinical correlates of pain with amniocentesis.
Harris A, Monga M, Wicklund CA, Robbins-Furman PJ, Strecker MN, Doyle NM, Mastrobattista J. Harris A, et al. Am J Obstet Gynecol. 2004 Aug;191(2):542-5. doi: 10.1016/j.ajog.2004.01.032. Am J Obstet Gynecol. 2004. PMID: 15343234
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Potocki L, et al. Am J Hum Genet. 2007 Apr;80(4):633-49. doi: 10.1086/512864. Epub 2007 Feb 26. Am J Hum Genet. 2007. PMID: 17357070 Free PMC article.
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Zhang F, et al. Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001. Epub 2010 Feb 25. Am J Hum Genet. 2010. PMID: 20188345 Free PMC article.
Stress and well-being among parents of children with Potocki-Lupski syndrome.
Carter RD, Raia M, Ewing-Cobbs L, Gambello M, Hashmi SS, Peterson SK, Robbins-Furman P, Potocki L. Carter RD, et al. Among authors: robbins furman p. J Genet Couns. 2013 Oct;22(5):633-42. doi: 10.1007/s10897-013-9602-6. Epub 2013 May 25. J Genet Couns. 2013. PMID: 23709095
17 results