Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2)

Yee SW, Shima JE, Nguyen L, De Val S, Lafond RJ, Kawamoto M, Johns SJ, Stryke D, Kwok P, Ferrin TE, Black BL, Gurwitz D, Ahituv N, Giacomini KM

Journal of Pharmacology and Experimental Therapeutics 2009; 328:699-707.

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, Browberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C

Human Molecular Genetics 2009; 18:1140-1147.

A new mouse mutant for the LDL receptor identified using ENU mutagenesis

Svenson KL, Ahituv N, Durgin RS, Savage H, Magnani PA, Foreman O, Paigen B, Peters LL

Journal of Lipid Research 2008; 49:2452-2462.

Alternative approach to a heavy weight problem

Goren A, Kim E, Amit M, Bochner R, Lev-Maor G, Ahituv N, Ast G

Genome Research 2008; 18:214-220.

In Vivo characterization of human APOA5 haplotypes

Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA

Genomics 2007; 90:674-679.

Deletion of ultraconserved elements yields viable mice

Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM

PLoS Biology 2007; 5:e234.

Medical sequencing at the extremes of human body mass

Ahituv N, Kavaslar N, Schackwitz WS, Ustaszewska A, Martin J, Hébert 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

American Journal of Human Genetics 2007; 80: 779-791.

Gain-of-function R225W mutation in human AMPKgamma3 causing increased glycogen and decreased triglyceride in skeletal muscle

Costford S, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, Harper ME

PLoS One 2007; 2:e903.

In vivo enhancer analysis of human conserved noncoding sequences

Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, Shoukry M, Minovitsky S, Dubchak I, Holt A, Lewis KD, Plajzer-Frick I, Akiyama J, De Val S, Afzal V, Black BL, Couronne O, Eisen MB, Visel A, Rubin EM

Nature 2006; 444:499-502.

A distal enhancer and an ultraconserved exon are derived from a novel retroposon.

Bejerano G, Lowe C, Ahituv N, King B, Siepel A, Salama S, Rubin EM, Kent WJ, Haussler D

Nature 2006; 441:87-90.

A PYY Q62P variant linked to human obesity.

Ahituv N, Kavaslar N*, Schackwitz WS, Ustaszewska A, Collier JM, Hebert S, Doelle H, Dent R, Pennacchio LA, McPherson R

Human Molecular Genetics 2006; 15: 387-391.

Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny.

Ahituv N, Prabhakar S*, Poulin F, Rubin EM, Couronne O

Human Molecular Genetics 2005; 14: 3057-3063.

Exploiting human-fish genome comparisons for deciphering gene regulation.

Ahituv N, Rubin EM, Nobrega M (2004)

Human Molecular Genetics 13:R261-R266