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Items: 1 to 50 of 80

1.

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.

Potuijt JWP, Baas M, Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, Gallagher R, Swagemakers SM, Hovius SER, van Nieuwenhoven CA, Galjaard RH, van der Spek PJ, Ahituv N, de Klein A.

Genet Med. 2018 Mar 15. doi: 10.1038/gim.2018.18. [Epub ahead of print]

PMID:
29543231
2.

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Kircher M, Ahituv N.

Hum Mutat. 2018 Mar 10. doi: 10.1002/humu.23417. [Epub ahead of print]

PMID:
29524275
3.

Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.

Mak AC, White MJ, Eckalbar WL, Szpiech ZA, Oh SS, Pino-Yanes M, Hu D, Goddard P, Huntsman S, Galanter J, Wu AC, Himes BE, Germer S, Vogel JM, Bunting KL, Eng C, Salazar S, Keys KL, Liberto J, Nuckton TJ, Nguyen TA, Torgerson DG, Kwok PY, Levin AM, Celedón JC, Forno E, Hakonarson H, Sleiman PM, Dahlin A, Tantisira KG, Weiss ST, Serebrisky D, Brigino-Buenaventura E, Farber HJ, Meade K, Lenoir MA, Avila PC, Sen S, Thyne SM, Rodriguez-Cintron W, Winkler CA, Moreno-Estrada A, Sandoval K, Rodriguez-Santana JR, Kumar R, Williams LK, Ahituv N, Ziv E, Seibold MA, Darnell RB, Zaitlen N, Hernandez RD, Burchard EG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium.

Am J Respir Crit Care Med. 2018 Mar 6. doi: 10.1164/rccm.201712-2529OC. [Epub ahead of print]

PMID:
29509491
4.

Rare Variants in the ABCG2 Promoter Modulate In Vivo Activity.

Eclov RJ, Kim MJ, Smith R, Ahituv N, Kroetz DL.

Drug Metab Dispos. 2018 May;46(5):636-642. doi: 10.1124/dmd.117.079541. Epub 2018 Feb 21.

PMID:
29467213
5.

CRISPR-Cas9-mediated functional dissection of 3'-UTRs.

Zhao W, Siegel D, Biton A, Tonqueze OL, Zaitlen N, Ahituv N, Erle DJ.

Nucleic Acids Res. 2017 Oct 13;45(18):10800-10810. doi: 10.1093/nar/gkx675.

6.

ABCG2 regulatory single-nucleotide polymorphisms alter in vivo enhancer activity and expression.

Eclov RJ, Kim MJ, Chhibber A, Smith RP, Ahituv N, Kroetz DL.

Pharmacogenet Genomics. 2017 Dec;27(12):454-463. doi: 10.1097/FPC.0000000000000312.

PMID:
28930109
7.

Variant Interpretation: Functional Assays to the Rescue.

Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM.

Am J Hum Genet. 2017 Sep 7;101(3):315-325. doi: 10.1016/j.ajhg.2017.07.014.

8.

Use antibiotics in cell culture with caution: genome-wide identification of antibiotic-induced changes in gene expression and regulation.

Ryu AH, Eckalbar WL, Kreimer A, Yosef N, Ahituv N.

Sci Rep. 2017 Aug 8;7(1):7533. doi: 10.1038/s41598-017-07757-w.

9.

Gene Regulatory Elements, Major Drivers of Human Disease.

Chatterjee S, Ahituv N.

Annu Rev Genomics Hum Genet. 2017 Aug 31;18:45-63. doi: 10.1146/annurev-genom-091416-035537. Epub 2017 Apr 7. Review.

PMID:
28399667
10.

Limb development: a paradigm of gene regulation.

Petit F, Sears KE, Ahituv N.

Nat Rev Genet. 2017 Apr;18(4):245-258. doi: 10.1038/nrg.2016.167. Epub 2017 Feb 6. Review.

PMID:
28163321
11.

Genomic Characterization of Metformin Hepatic Response.

Luizon MR, Eckalbar WL, Wang Y, Jones SL, Smith RP, Laurance M, Lin L, Gallins PJ, Etheridge AS, Wright F, Zhou Y, Molony C, Innocenti F, Yee SW, Giacomini KM, Ahituv N.

PLoS Genet. 2016 Nov 30;12(11):e1006449. doi: 10.1371/journal.pgen.1006449. eCollection 2016 Nov.

12.

In Vivo Hepatic Enhancer Elements in the Human ABCG2 Locus.

Eclov RJ, Kim MJ, Smith RP, Liang X, Ahituv N, Kroetz DL.

Drug Metab Dispos. 2017 Feb;45(2):208-215. doi: 10.1124/dmd.116.072033. Epub 2016 Nov 17.

13.

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J.

Genome Res. 2017 Jan;27(1):38-52. doi: 10.1101/gr.212092.116. Epub 2016 Nov 9.

14.

Transcriptomic and epigenomic characterization of the developing bat wing.

Eckalbar WL, Schlebusch SA, Mason MK, Gill Z, Parker AV, Booker BM, Nishizaki S, Muswamba-Nday C, Terhune E, Nevonen KA, Makki N, Friedrich T, VanderMeer JE, Pollard KS, Carbone L, Wall JD, Illing N, Ahituv N.

Nat Genet. 2016 May;48(5):528-36. doi: 10.1038/ng.3537. Epub 2016 Mar 28.

15.

Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus.

Booker BM, Friedrich T, Mason MK, VanderMeer JE, Zhao J, Eckalbar WL, Logan M, Illing N, Pollard KS, Ahituv N.

PLoS Genet. 2016 Mar 28;12(3):e1005738. doi: 10.1371/journal.pgen.1005738. eCollection 2016 Mar.

16.

Exonic enhancers: proceed with caution in exome and genome sequencing studies.

Ahituv N.

Genome Med. 2016 Feb 8;8(1):14. doi: 10.1186/s13073-016-0277-0.

17.

Prenatal β-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors.

Belinson H, Nakatani J, Babineau BA, Birnbaum RY, Ellegood J, Bershteyn M, McEvilly RJ, Long JM, Willert K, Klein OD, Ahituv N, Lerch JP, Rosenfeld MG, Wynshaw-Boris A.

Mol Psychiatry. 2016 Oct;21(10):1417-33. doi: 10.1038/mp.2015.207. Epub 2016 Feb 2.

18.

A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.

Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A.

Nat Commun. 2015 Dec 21;6:10130. doi: 10.1038/ncomms10130.

19.

Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease.

Matharu N, Ahituv N.

PLoS Genet. 2015 Dec 3;11(12):e1005640. doi: 10.1371/journal.pgen.1005640. eCollection 2015 Dec. Review.

20.

The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration.

Hesse RG, Kouklis GK, Ahituv N, Pomerantz JH.

Elife. 2015 Nov 17;4. pii: e07702. doi: 10.7554/eLife.07702.

21.

Uncovering drug-responsive regulatory elements.

Luizon MR, Ahituv N.

Pharmacogenomics. 2015 Nov;16(16):1829-41. doi: 10.2217/pgs.15.121. Epub 2015 Nov 10. Review.

22.

Functionally conserved enhancers with divergent sequences in distant vertebrates.

Yang S, Oksenberg N, Takayama S, Heo SJ, Poliakov A, Ahituv N, Dubchak I, Boffelli D.

BMC Genomics. 2015 Oct 30;16:882. doi: 10.1186/s12864-015-2070-7.

23.

Identification of novel Fgf enhancers and their role in dental evolution.

Tapaltsyan V, Charles C, Hu J, Mindell D, Ahituv N, Wilson GM, Black BL, Viriot L, Klein OD.

Evol Dev. 2016 Jan-Feb;18(1):31-40. doi: 10.1111/ede.12132. Epub 2015 Jun 18.

24.

Decoding enhancers using massively parallel reporter assays.

Inoue F, Ahituv N.

Genomics. 2015 Sep;106(3):159-164. doi: 10.1016/j.ygeno.2015.06.005. Epub 2015 Jun 10. Review.

25.

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.

Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, Murphy KK, Cornelia R; TSRHC Scoliosis Clinical Group; Japan Scoliosis Clinical Research Group, Herring JA, Burns D, Ahituv N, Ikegawa S, Gordon D, Wise CA.

Nat Commun. 2015 Mar 18;6:6452. doi: 10.1038/ncomms7452.

26.

Enhancer interaction networks as a means for singular olfactory receptor expression.

Markenscoff-Papadimitriou E, Allen WE, Colquitt BM, Goh T, Murphy KK, Monahan K, Mosley CP, Ahituv N, Lomvardas S.

Cell. 2014 Oct 23;159(3):543-57. doi: 10.1016/j.cell.2014.09.033.

27.

Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.

Birnbaum RY, Patwardhan RP, Kim MJ, Findlay GM, Martin B, Zhao J, Bell RJ, Smith RP, Ku AA, Shendure J, Ahituv N.

PLoS Genet. 2014 Oct 23;10(10):e1004592. doi: 10.1371/journal.pgen.1004592. eCollection 2014 Oct.

28.

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A.

Mol Genet Genomic Med. 2014 Sep;2(5):402-11. doi: 10.1002/mgg3.81. Epub 2014 May 14.

29.

Genome-wide discovery of drug-dependent human liver regulatory elements.

Smith RP, Eckalbar WL, Morrissey KM, Luizon MR, Hoffmann TJ, Sun X, Jones SL, Force Aldred S, Ramamoorthy A, Desta Z, Liu Y, Skaar TC, Trinklein ND, Giacomini KM, Ahituv N.

PLoS Genet. 2014 Oct 2;10(10):e1004648. doi: 10.1371/journal.pgen.1004648. eCollection 2014 Oct.

30.

Genome-wide identification of signaling center enhancers in the developing limb.

VanderMeer JE, Smith RP, Jones SL, Ahituv N.

Development. 2014 Nov;141(21):4194-8. doi: 10.1242/dev.110965. Epub 2014 Oct 1.

31.

Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes.

Oksenberg N, Haliburton GD, Eckalbar WL, Oren I, Nishizaki S, Murphy K, Pollard KS, Birnbaum RY, Ahituv N.

Transl Psychiatry. 2014 Sep 2;4:e431. doi: 10.1038/tp.2014.78.

32.

Integrating diverse datasets improves developmental enhancer prediction.

Erwin GD, Oksenberg N, Truty RM, Kostka D, Murphy KK, Ahituv N, Pollard KS, Capra JA.

PLoS Comput Biol. 2014 Jun 26;10(6):e1003677. doi: 10.1371/journal.pcbi.1003677. eCollection 2014 Jun.

33.

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions.

Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C.

PLoS One. 2014 May 12;9(5):e96805. doi: 10.1371/journal.pone.0096805. eCollection 2014.

34.

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N.

Hum Mutat. 2014 Aug;35(8):945-8. doi: 10.1002/humu.22581. Epub 2014 Jun 3.

35.

Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations.

Zhang Y, Wong CH, Birnbaum RY, Li G, Favaro R, Ngan CY, Lim J, Tai E, Poh HM, Wong E, Mulawadi FH, Sung WK, Nicolis S, Ahituv N, Ruan Y, Wei CL.

Nature. 2013 Dec 12;504(7479):306-310. doi: 10.1038/nature12716. Epub 2013 Nov 10.

36.

Functional characterization of SIM1-associated enhancers.

Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N.

Hum Mol Genet. 2014 Apr 1;23(7):1700-8. doi: 10.1093/hmg/ddt559. Epub 2013 Nov 7.

37.

Sequence signatures extracted from proximal promoters can be used to predict distal enhancers.

Taher L, Smith RP, Kim MJ, Ahituv N, Ovcharenko I.

Genome Biol. 2013;14(10):R117.

38.

Classification of topological domains based on gene expression and regulation.

Zhao J, Shi H, Ahituv N.

Genome. 2013 Jul;56(7):415-23. doi: 10.1139/gen-2013-0111. Epub 2013 Sep 4.

39.

Functional analysis of limb enhancers in the developing fin.

Booker BM, Murphy KK, Ahituv N.

Dev Genes Evol. 2013 Nov;223(6):395-9. doi: 10.1007/s00427-013-0453-9. Epub 2013 Sep 26.

40.

The role of AUTS2 in neurodevelopment and human evolution.

Oksenberg N, Ahituv N.

Trends Genet. 2013 Oct;29(10):600-8. doi: 10.1016/j.tig.2013.08.001. Epub 2013 Sep 2. Review.

41.

Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model.

Smith RP, Taher L, Patwardhan RP, Kim MJ, Inoue F, Shendure J, Ovcharenko I, Ahituv N.

Nat Genet. 2013 Sep;45(9):1021-1028. doi: 10.1038/ng.2713. Epub 2013 Jul 28.

42.

A compact, in vivo screen of all 6-mers reveals drivers of tissue-specific expression and guides synthetic regulatory element design.

Smith RP, Riesenfeld SJ, Holloway AK, Li Q, Murphy KK, Feliciano NM, Orecchia L, Oksenberg N, Pollard KS, Ahituv N.

Genome Biol. 2013 Jul 18;14(7):R72. doi: 10.1186/gb-2013-14-7-r72.

43.

The hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers.

Kim MJ, Ahituv N.

Methods Mol Biol. 2013;1015:279-89. doi: 10.1007/978-1-62703-435-7_18.

44.

Function and regulation of AUTS2, a gene implicated in autism and human evolution.

Oksenberg N, Stevison L, Wall JD, Ahituv N.

PLoS Genet. 2013;9(1):e1003221. doi: 10.1371/journal.pgen.1003221. Epub 2013 Jan 17.

45.

Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice.

Andersson LS, Larhammar M, Memic F, Wootz H, Schwochow D, Rubin CJ, Patra K, Arnason T, Wellbring L, Hjälm G, Imsland F, Petersen JL, McCue ME, Mickelson JR, Cothran G, Ahituv N, Roepstorff L, Mikko S, Vallstedt A, Lindgren G, Andersson L, Kullander K.

Nature. 2012 Aug 30;488(7413):642-6. doi: 10.1038/nature11399.

46.

Functional characterization of tissue-specific enhancers in the DLX5/6 locus.

Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N.

Hum Mol Genet. 2012 Nov 15;21(22):4930-8. doi: 10.1093/hmg/dds336. Epub 2012 Aug 21.

47.

Human developmental enhancers conserved between deuterostomes and protostomes.

Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G.

PLoS Genet. 2012;8(8):e1002852. doi: 10.1371/journal.pgen.1002852. Epub 2012 Aug 2.

48.

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.

VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S.

Am J Med Genet A. 2012 Aug;158A(8):2031-5. doi: 10.1002/ajmg.a.35473. Epub 2012 Jul 11.

49.

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.

Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT.

Am J Med Genet A. 2012 Jul;158A(7):1620-7. doi: 10.1002/ajmg.a.35418. Epub 2012 Jun 7.

50.

Pharmacogene regulatory elements: from discovery to applications.

Smith RP, Lam ET, Markova S, Yee SW, Ahituv N.

Genome Med. 2012 May 25;4(5):45. doi: 10.1186/gm344.

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