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SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N. Dauber A, et al. Among authors: hirschhorn jn. Am J Hum Genet. 2013 Nov 7;93(5):798-811. doi: 10.1016/j.ajhg.2013.09.010. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140112 Free PMC article.
Genetic signatures of strong recent positive selection at the lactase gene.
Bersaglieri T, Sabeti PC, Patterson N, Vanderploeg T, Schaffner SF, Drake JA, Rhodes M, Reich DE, Hirschhorn JN. Bersaglieri T, et al. Among authors: hirschhorn jn. Am J Hum Genet. 2004 Jun;74(6):1111-20. doi: 10.1086/421051. Epub 2004 Apr 26. Am J Hum Genet. 2004. PMID: 15114531 Free PMC article.
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Lango Allen H, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM, Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR, Ferreira T, Weyant RJ, Segrè AV, Estrada K, Liang L, Nemesh J, Park JH, Gustafsson S, Kilpeläinen TO, Yang J, Bouatia-Naji N, Esko T, Feitosa MF, Kutalik Z, Mangino M, Raychaudhuri S, Scherag A, Smith AV, Welch R, Zhao JH, Aben KK, Absher DM, Amin N, Dixon AL, Fisher E, Glazer NL, Goddard ME, Heard-Costa NL, Hoesel V, Hottenga JJ, Johansson A, Johnson T, Ketkar S, Lamina C, Li S, Moffatt MF, Myers RH, Narisu N, Perry JR, Peters MJ, Preuss M, Ripatti S, Rivadeneira F, Sandholt C, Scott LJ, Timpson NJ, Tyrer JP, van Wingerden S, Watanabe RM, White CC, Wiklund F, Barlassina C, Chasman DI, Cooper MN, Jansson JO, Lawrence RW, Pellikka N, Prokopenko I, Shi J, Thiering E, Alavere H, Alibrandi MT, Almgren P, Arnold AM, Aspelund T, Atwood LD, Balkau B, Balmforth AJ, Bennett AJ, Ben-Shlomo Y, Bergman RN, Bergmann S, Biebermann H, Blakemore AI, Boes T, Bonnycastle LL, Bornstein SR, Brown MJ, Buchanan TA, Busonero F, Campbell H, Cappuccio FP, Caval… See abstract for full author list ➔ Speliotes EK, et al. Among authors: hirschhorn jn. Nat Genet. 2010 Nov;42(11):937-48. doi: 10.1038/ng.686. Epub 2010 Oct 10. Nat Genet. 2010. PMID: 20935630 Free PMC article.
The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA.
Chiang CW, Gajdos ZK, Korn JM, Butler JL, Hackett R, Guiducci C, Nguyen TT, Wilks R, Forrester T, Henderson KD, Le Marchand L, Henderson BE, Haiman CA, Cooper RS, Lyon HN, Zhu X, McKenzie CA, Palmert MR, Hirschhorn JN. Chiang CW, et al. Among authors: hirschhorn jn. Hum Genet. 2011 Nov;130(5):607-21. doi: 10.1007/s00439-011-0974-0. Epub 2011 Mar 22. Hum Genet. 2011. PMID: 21424828 Free PMC article.
Genome-wide association studies in pediatric endocrinology.
Dauber A, Hirschhorn JN. Dauber A, et al. Among authors: hirschhorn jn. Horm Res Paediatr. 2011;75(5):322-8. doi: 10.1159/000326684. Epub 2011 Apr 5. Horm Res Paediatr. 2011. PMID: 21464565 Free article. Review.
371 results