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Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.
Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. Slavotinek AM, et al. Among authors: pennacchio la. Eur J Hum Genet. 2006 Sep;14(9):999-1008. doi: 10.1038/sj.ejhg.5201652. Epub 2006 May 31. Eur J Hum Genet. 2006. PMID: 16736036
TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.
Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH, Ptáček LJ. Kurien P, et al. Among authors: pennacchio la. Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):12045-12053. doi: 10.1073/pnas.1819110116. Epub 2019 May 28. Proc Natl Acad Sci U S A. 2019. PMID: 31138685 Free PMC article.
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.
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.
Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C. Calton MA, et al. Among authors: pennacchio la. Hum Mol Genet. 2009 Mar 15;18(6):1140-7. doi: 10.1093/hmg/ddn431. Epub 2008 Dec 17. Hum Mol Genet. 2009. PMID: 19091795 Free PMC article.
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH. Osbun N, et al. Among authors: pennacchio la. Am J Med Genet A. 2011 Aug;155A(8):1865-76. doi: 10.1002/ajmg.a.34081. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739582 Free PMC article.
A Cryptochrome 2 mutation yields advanced sleep phase in humans.
Hirano A, Shi G, Jones CR, Lipzen A, Pennacchio LA, Xu Y, Hallows WC, McMahon T, Yamazaki M, Ptáček LJ, Fu YH. Hirano A, et al. Among authors: pennacchio la. Elife. 2016 Aug 16;5:e16695. doi: 10.7554/eLife.16695. Elife. 2016. PMID: 27529127 Free PMC article.
187 results