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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: schackwitz w. 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.
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: schackwitz w. 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
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: schackwitz w. J Clin Invest. 2005 Apr;115(4):1016-20. doi: 10.1172/JCI24186. J Clin Invest. 2005. PMID: 15841183 Free PMC article.
Genomic Sequence Variation Analysis by Resequencing.
Martin J, Schackwitz W, Lipzen A. Martin J, et al. Among authors: schackwitz w. Methods Mol Biol. 2018;1775:229-239. doi: 10.1007/978-1-4939-7804-5_18. Methods Mol Biol. 2018. PMID: 29876821
Whole-Genome Sequencing Identifies a Rice Grain Shape Mutant, gs9-1.
Jiang L, Li G, Chern M, Jain R, Pham NT, Martin JA, Schackwitz WS, Zhao J, Ruan D, Huang R, Zheng J, Ronald PC. Jiang L, et al. Among authors: schackwitz ws. Rice (N Y). 2019 Jul 18;12(1):52. doi: 10.1186/s12284-019-0308-8. Rice (N Y). 2019. PMID: 31321562 Free PMC article.
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: schackwitz w. Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13. Nat Genet. 2007. PMID: 17143282
59 results