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Medical sequencing at the extremes of human body mass.
Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Martin J, Hebert S, Doelle H, Ersoy B, Kryukov G, Schmidt S, Yosef N, Ruppin E, Sharan R, Vaisse C, Sunyaev S, Dent R, Cohen J, McPherson R, Pennacchio LA. Ahituv N, et al. Among authors: pennacchio la. Am J Hum Genet. 2007 Apr;80(4):779-91. doi: 10.1086/513471. Epub 2007 Mar 5. Am J Hum Genet. 2007. PMID: 17357083 Free PMC article.
Lack of MEF2A mutations in coronary artery disease.
Weng L, Kavaslar N, Ustaszewska A, Doelle H, Schackwitz W, Hébert S, Cohen JC, McPherson R, Pennacchio LA. Weng L, et al. Among authors: pennacchio la. J Clin Invest. 2005 Apr;115(4):1016-20. doi: 10.1172/JCI24186. J Clin Invest. 2005. PMID: 15841183 Free PMC article.
Lack of support for the association between GAD2 polymorphisms and severe human obesity.
Swarbrick MM, Waldenmaier B, Pennacchio LA, Lind DL, Cavazos MM, Geller F, Merriman R, Ustaszewska A, Malloy M, Scherag A, Hsueh WC, Rief W, Mauvais-Jarvis F, Pullinger CR, Kane JP, Dent R, McPherson R, Kwok PY, Hinney A, Hebebrand J, Vaisse C. Swarbrick MM, et al. Among authors: pennacchio la. PLoS Biol. 2005 Sep;3(9):e315. doi: 10.1371/journal.pbio.0030315. Epub 2005 Aug 30. PLoS Biol. 2005. PMID: 16122350 Free PMC article.
A PYY Q62P variant linked to human obesity.
Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Collier JM, Hébert S, Doelle H, Dent R, Pennacchio LA, McPherson R. Ahituv N, et al. Among authors: pennacchio la. Hum Mol Genet. 2006 Feb 1;15(3):387-91. doi: 10.1093/hmg/ddi455. Epub 2005 Dec 20. Hum Mol Genet. 2006. PMID: 16368708
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Tartaglia M, et al. Among authors: pennacchio la. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282
186 results