| Year |
Citation |
Score |
| 2024 |
Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford GE, Ahituv N, Abyzov A, Vaccarino FM. Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids. Scientific Reports. 14: 3936. PMID 38365907 DOI: 10.1038/s41598-024-54302-7 |
0.318 |
|
| 2023 |
Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford GE, Ahituv N, Abyzov A, Vaccarino FM. Characterization of enhancer activity in early human neurodevelopment using Massively parallel reporter assay (MPRA) and forebrain organoids. Biorxiv : the Preprint Server For Biology. PMID 37645832 DOI: 10.1101/2023.08.14.553170 |
0.319 |
|
| 2023 |
Georgakopoulos-Soares I, Deng C, Agarwal V, Chan CSY, Zhao J, Inoue F, Ahituv N. Transcription factor binding site orientation and order are major drivers of gene regulatory activity. Nature Communications. 14: 2333. PMID 37087538 DOI: 10.1038/s41467-023-37960-5 |
0.363 |
|
| 2023 |
Agarwal V, Inoue F, Schubach M, Martin BK, Dash PM, Zhang Z, Sohota A, Noble WS, Yardimci GG, Kircher M, Shendure J, Ahituv N. Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types. Biorxiv : the Preprint Server For Biology. PMID 36945371 DOI: 10.1101/2023.03.05.531189 |
0.302 |
|
| 2023 |
Koesterich J, An JY, Inoue F, Sohota A, Ahituv N, Sanders SJ, Kreimer A. Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays. International Journal of Molecular Sciences. 24. PMID 36834916 DOI: 10.3390/ijms24043509 |
0.354 |
|
| 2023 |
Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM, Pollen A, Nowakowski TJ, Ahituv N, Pollard KS. Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex. Biorxiv : the Preprint Server For Biology. PMID 36824845 DOI: 10.1101/2023.02.15.528663 |
0.312 |
|
| 2022 |
Kreimer A, Ashuach T, Inoue F, Khodaverdian A, Deng C, Yosef N, Ahituv N. Massively parallel reporter perturbation assays uncover temporal regulatory architecture during neural differentiation. Nature Communications. 13: 1504. PMID 35315433 DOI: 10.1038/s41467-022-28659-0 |
0.344 |
|
| 2021 |
Georgakopoulos-Soares I, Yizhar-Barnea O, Mouratidis I, Hemberg M, Ahituv N. Absent from DNA and protein: genomic characterization of nullomers and nullpeptides across functional categories and evolution. Genome Biology. 22: 245. PMID 34433494 DOI: 10.1186/s13059-021-02459-z |
0.316 |
|
| 2021 |
Weiss CV, Harshman L, Inoue F, Fraser HB, Petrov DA, Ahituv N, Gokhman D. The -regulatory effects of modern human-specific variants. Elife. 10. PMID 33885362 DOI: 10.7554/eLife.63713 |
0.369 |
|
| 2021 |
Ushiki A, Zhang Y, Xiong C, Zhao J, Georgakopoulos-Soares I, Kane L, Jamieson K, Bamshad MJ, Nickerson DA, Shen Y, Lettice LA, Silveira-Lucas EL, Petit F, Ahituv N. Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nature Communications. 12: 2282. PMID 33863876 DOI: 10.1038/s41467-021-22470-z |
0.342 |
|
| 2020 |
Makki N, Zhao J, Liu Z, Eckalbar WL, Ushiki A, Khanshour AM, Wu J, Rios J, Gray RS, Wise CA, Ahituv N. Genomic characterization of the adolescent idiopathic scoliosis associated transcriptome and regulome. Human Molecular Genetics. PMID 33179741 DOI: 10.1093/hmg/ddaa242 |
0.338 |
|
| 2020 |
Okhovat M, Nevonen KA, Davis BA, Michener P, Ward S, Milhaven M, Harshman L, Sohota A, Fernandes JD, Salama SR, O'Neill RJ, Ahituv N, Veeramah KR, Carbone L. Co-option of the lineage-specific retrotransposon in the gibbon genome. Proceedings of the National Academy of Sciences of the United States of America. PMID 32690705 DOI: 10.1073/Pnas.2006038117 |
0.485 |
|
| 2020 |
Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulous-Soares I, Yosef N, Ye CJ, Pollard KS, ... ... Ahituv N, et al. lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nature Protocols. PMID 32641802 DOI: 10.1038/S41596-020-0333-5 |
0.435 |
|
| 2020 |
Linhares ND, Pereira DA, Conceição IM, Franco GR, Eckalbar WL, Ahituv N, Luizon MR. Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream of . Pharmacogenomics. PMID 32427048 DOI: 10.2217/Pgs-2020-0010 |
0.385 |
|
| 2020 |
Wise CA, Sepich D, Ushiki A, Khanshour AM, Kidane YH, Makki N, Gurnett CA, Gray RS, Rios JJ, Ahituv N, Solnica-Krezel L. The cartilage matrisome in adolescent idiopathic scoliosis. Bone Research. 8: 13. PMID 32195011 DOI: 10.1038/S41413-020-0089-0 |
0.314 |
|
| 2020 |
Zeng Y, Cao Y, Halevy RS, Nguyen P, Liu D, Zhang X, Ahituv N, Han JJ. Characterization of functional transposable element enhancers in acute myeloid leukemia. Science China. Life Sciences. PMID 32170627 DOI: 10.1007/S11427-019-1574-X |
0.38 |
|
| 2019 |
Liu Z, Easson GWD, Zhao J, Makki N, Ahituv N, Hilton MJ, Tang SY, Gray RS. Dysregulation of STAT3 signaling is associated with endplate-oriented herniations of the intervertebral disc in Adgrg6 mutant mice. Plos Genetics. 15: e1008096. PMID 31652254 DOI: 10.1371/Journal.Pgen.1008096 |
0.342 |
|
| 2019 |
Inoue F, Kreimer A, Ashuach T, Ahituv N, Yosef N. Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction. Cell Stem Cell. PMID 31631012 DOI: 10.1016/J.Stem.2019.09.010 |
0.447 |
|
| 2019 |
Ashuach T, Fischer DS, Kreimer A, Ahituv N, Theis FJ, Yosef N. MPRAnalyze: statistical framework for massively parallel reporter assays. Genome Biology. 20: 183. PMID 31477158 DOI: 10.1186/S13059-019-1787-Z |
0.33 |
|
| 2019 |
Hardin A, Nevonen KA, Eckalbar WL, Carbone L, Ahituv N. Comparative genomic characterization of the multimammate mouse Mastomys coucha. Molecular Biology and Evolution. PMID 31424545 DOI: 10.1093/Molbev/Msz188 |
0.41 |
|
| 2019 |
Xu C, Yang X, Zhou H, Li Y, Xing C, Zhou T, Zhong D, Lian C, Yan M, Chen T, Liao Z, Gao B, Su D, Wang T, Sharma S, ... ... Ahituv N, et al. A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31395945 DOI: 10.1038/S41436-019-0626-7 |
0.428 |
|
| 2019 |
Kircher M, Xiong C, Martin B, Schubach M, Inoue F, Bell RJA, Costello JF, Shendure J, Ahituv N. Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. Nature Communications. 10: 3583. PMID 31395865 DOI: 10.1038/S41467-019-11526-W |
0.457 |
|
| 2019 |
Kreimer A, Yan Z, Ahituv N, Yosef N. Meta-analysis of massively parallel reporter assays enables prediction of regulatory activity. Human Mutation. PMID 31131957 DOI: 10.1002/Humu.23820 |
0.393 |
|
| 2019 |
Shigaki D, Adato O, Adhikar AN, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar DP, Schubach M, Xiong C, Yan Z, Boyle AP, ... ... Ahituv N, et al. Integration of Multiple Epigenomic Marks Improves Prediction of Variant Impact in Saturation Mutagenesis Reporter Assay. Human Mutation. PMID 31106481 DOI: 10.1002/Humu.23797 |
0.418 |
|
| 2019 |
Jorgenson E, Matharu N, Palmer MR, Yin J, Shan J, Hoffmann TJ, Thai KK, Zhou X, Hotaling JM, Jarvik GP, Ahituv N, Wessells H, Van Den Eeden SK. Reply to Liu et al.: Tissue specificity of gene expression and erectile dysfunction. Proceedings of the National Academy of Sciences of the United States of America. PMID 30755537 DOI: 10.1073/Pnas.1900162116 |
0.419 |
|
| 2018 |
Gasperini M, Hill AJ, McFaline-Figueroa JL, Martin B, Kim S, Zhang MD, Jackson D, Leith A, Schreiber J, Noble WS, Trapnell C, Ahituv N, Shendure J. A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Cell. PMID 30612741 DOI: 10.1016/J.Cell.2018.11.029 |
0.435 |
|
| 2018 |
An JY, Lin K, Zhu L, Werling DM, Dong S, Brand H, Wang HZ, Zhao X, Schwartz GB, Collins RL, Currall BB, Dastmalchi C, Dea J, Duhn C, Gilson MC, ... ... Ahituv N, et al. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science (New York, N.Y.). 362. PMID 30545852 DOI: 10.1126/Science.Aat6576 |
0.447 |
|
| 2018 |
Matharu N, Rattanasopha S, Tamura S, Maliskova L, Wang Y, Bernard A, Hardin A, Eckalbar WL, Vaisse C, Ahituv N. CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency. Science (New York, N.Y.). PMID 30545847 DOI: 10.1126/Science.Aau0629 |
0.39 |
|
| 2018 |
Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, ... ... Ahituv N, et al. Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci. Human Molecular Genetics. 27: 3986-3998. PMID 30395268 DOI: 10.1093/Hmg/Ddy306 |
0.394 |
|
| 2018 |
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER. A multidisciplinary review of triphalangeal thumb. The Journal of Hand Surgery, European Volume. 1753193418803521. PMID 30318985 DOI: 10.1177/1753193418803521 |
0.314 |
|
| 2018 |
Jorgenson E, Matharu N, Palmer MR, Yin J, Shan J, Hoffmann TJ, Thai KK, Zhou X, Hotaling JM, Jarvik GP, Ahituv N, Wessells H, Van Den Eeden SK. Genetic variation in the locus is associated with erectile dysfunction. Proceedings of the National Academy of Sciences of the United States of America. PMID 30297428 DOI: 10.1073/Pnas.1809872115 |
0.351 |
|
| 2018 |
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. A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29543231 DOI: 10.1038/Gim.2018.18 |
0.476 |
|
| 2018 |
Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA, Kircher M, Ahituv N. Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Human Mutation. PMID 29524275 DOI: 10.1002/Humu.23417 |
0.319 |
|
| 2018 |
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, ... ... Ahituv N, et al. Whole Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. American Journal of Respiratory and Critical Care Medicine. PMID 29509491 DOI: 10.1164/Rccm.201712-2529Oc |
0.346 |
|
| 2018 |
Eclov RJ, Kim MJ, Smith RP, Ahituv N, Kroetz DL. Rare Variants in the ABCG2 Promoter Modulate In Vivo Activity. Drug Metabolism and Disposition: the Biological Fate of Chemicals. PMID 29467213 DOI: 10.1124/Dmd.117.079541 |
0.693 |
|
| 2017 |
Zhao W, Siegel D, Biton A, Tonqueze OL, Zaitlen N, Ahituv N, Erle DJ. CRISPR-Cas9-mediated functional dissection of 3'-UTRs. Nucleic Acids Research. PMID 28985357 DOI: 10.1093/Nar/Gkx675 |
0.404 |
|
| 2017 |
Eclov RJ, Kim MJ, Chhibber A, Smith RP, Ahituv N, Kroetz DL. ABCG2 regulatory single-nucleotide polymorphisms alter in-vivo enhancer activity and expression. Pharmacogenetics and Genomics. PMID 28930109 DOI: 10.1097/Fpc.0000000000000312 |
0.728 |
|
| 2017 |
Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM. Variant Interpretation: Functional Assays to the Rescue. American Journal of Human Genetics. 101: 315-325. PMID 28886340 DOI: 10.1016/J.Ajhg.2017.07.014 |
0.351 |
|
| 2017 |
Ryu AH, Eckalbar WL, Kreimer A, Yosef N, Ahituv N. Use antibiotics in cell culture with caution: genome-wide identification of antibiotic-induced changes in gene expression and regulation. Scientific Reports. 7: 7533. PMID 28790348 DOI: 10.1038/S41598-017-07757-W |
0.38 |
|
| 2017 |
Chatterjee S, Ahituv N. Gene Regulatory Elements, Major Drivers of Human Disease. Annual Review of Genomics and Human Genetics. PMID 28399667 DOI: 10.1146/Annurev-Genom-091416-035537 |
0.481 |
|
| 2017 |
Petit F, Sears KE, Ahituv N. Limb development: a paradigm of gene regulation. Nature Reviews. Genetics. PMID 28163321 DOI: 10.1038/Nrg.2016.167 |
0.422 |
|
| 2016 |
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, et al. Genomic Characterization of Metformin Hepatic Response. Plos Genetics. 12: e1006449. PMID 27902686 DOI: 10.1371/Journal.Pgen.1006449 |
0.47 |
|
| 2016 |
Eclov RJ, Kim MJ, Smith RP, Liang X, Ahituv N, Kroetz DL. In Vivo Hepatic Enhancer Elements in the Human ABCG2 Locus. Drug Metabolism and Disposition: the Biological Fate of Chemicals. PMID 27856528 DOI: 10.1124/Dmd.116.072033 |
0.75 |
|
| 2016 |
Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome Research. PMID 27831498 DOI: 10.1101/Gr.212092.116 |
0.43 |
|
| 2016 |
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, ... ... Ahituv N, et al. Transcriptomic and epigenomic characterization of the developing bat wing. Nature Genetics. PMID 27019111 DOI: 10.1038/Ng.3537 |
0.779 |
|
| 2016 |
Booker BM, Friedrich T, Mason MK, VanderMeer JE, Zhao J, Eckalbar WL, Logan M, Illing N, Pollard KS, Ahituv N. Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus. Plos Genetics. 12: e1005738. PMID 27019019 DOI: 10.1371/Journal.Pgen.1005738 |
0.803 |
|
| 2016 |
Ahituv N. Exonic enhancers: proceed with caution in exome and genome sequencing studies. Genome Medicine. 8: 14. PMID 26856702 DOI: 10.1186/S13073-016-0277-0 |
0.478 |
|
| 2016 |
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. Prenatal β-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors. Molecular Psychiatry. PMID 26830142 DOI: 10.1038/Mp.2015.207 |
0.307 |
|
| 2015 |
Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A. A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. Nature Communications. 6: 10130. PMID 26686553 DOI: 10.1038/Ncomms10130 |
0.384 |
|
| 2015 |
Matharu N, Ahituv N. Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease. Plos Genetics. 11: e1005640. PMID 26632825 DOI: 10.1371/Journal.Pgen.1005640 |
0.382 |
|
| 2015 |
Hesse RG, Kouklis GK, Ahituv N, Pomerantz JH. The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration. Elife. 4. PMID 26575287 DOI: 10.7554/Elife.07702 |
0.324 |
|
| 2015 |
Luizon MR, Ahituv N. Uncovering drug-responsive regulatory elements. Pharmacogenomics. PMID 26555224 DOI: 10.2217/Pgs.15.121 |
0.366 |
|
| 2015 |
Yang S, Oksenberg N, Takayama S, Heo SJ, Poliakov A, Ahituv N, Dubchak I, Boffelli D. Functionally conserved enhancers with divergent sequences in distant vertebrates. Bmc Genomics. 16: 882. PMID 26519295 DOI: 10.1186/S12864-015-2070-7 |
0.793 |
|
| 2015 |
Tapaltsyan V, Charles C, Hu J, Mindell D, Ahituv N, Wilson GM, Black BL, Viriot L, Klein OD. Identification of novel Fgf enhancers and their role in dental evolution. Evolution & Development. PMID 26086993 DOI: 10.1111/Ede.12132 |
0.416 |
|
| 2015 |
Inoue F, Ahituv N. Decoding enhancers using massively parallel reporter assays. Genomics. 106: 159-64. PMID 26072433 DOI: 10.1016/J.Ygeno.2015.06.005 |
0.452 |
|
| 2015 |
Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, Kou I, Takahashi A, Matsumoto M, Kamiya N, Murphy KK, Cornelia R, Herring JA, ... ... Ahituv N, et al. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Nature Communications. 6: 6452. PMID 25784220 DOI: 10.1038/Ncomms7452 |
0.356 |
|
| 2014 |
Markenscoff-Papadimitriou E, Allen WE, Colquitt BM, Goh T, Murphy KK, Monahan K, Mosley CP, Ahituv N, Lomvardas S. Enhancer interaction networks as a means for singular olfactory receptor expression. Cell. 159: 543-57. PMID 25417106 DOI: 10.1016/J.Cell.2014.09.033 |
0.355 |
|
| 2014 |
Birnbaum RY, Patwardhan RP, Kim MJ, Findlay GM, Martin B, Zhao J, Bell RJ, Smith RP, Ku AA, Shendure J, Ahituv N. Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. Plos Genetics. 10: e1004592. PMID 25340400 DOI: 10.1371/Journal.Pgen.1004592 |
0.753 |
|
| 2014 |
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, et al. Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Molecular Genetics & Genomic Medicine. 2: 402-11. PMID 25333065 DOI: 10.1002/Mgg3.81 |
0.767 |
|
| 2014 |
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. Genome-wide discovery of drug-dependent human liver regulatory elements. Plos Genetics. 10: e1004648. PMID 25275310 DOI: 10.1371/Journal.Pgen.1004648 |
0.432 |
|
| 2014 |
VanderMeer JE, Smith RP, Jones SL, Ahituv N. Genome-wide identification of signaling center enhancers in the developing limb. Development (Cambridge, England). 141: 4194-8. PMID 25273087 DOI: 10.1242/Dev.110965 |
0.796 |
|
| 2014 |
Oksenberg N, Haliburton GD, Eckalbar WL, Oren I, Nishizaki S, Murphy K, Pollard KS, Birnbaum RY, Ahituv N. Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Translational Psychiatry. 4: e431. PMID 25180570 DOI: 10.1038/Tp.2014.78 |
0.812 |
|
| 2014 |
Erwin GD, Oksenberg N, Truty RM, Kostka D, Murphy KK, Ahituv N, Pollard KS, Capra JA. Integrating diverse datasets improves developmental enhancer prediction. Plos Computational Biology. 10: e1003677. PMID 24967590 DOI: 10.1371/Journal.Pcbi.1003677 |
0.803 |
|
| 2014 |
Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C. Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions. Plos One. 9: e96805. PMID 24820477 DOI: 10.1371/Journal.Pone.0096805 |
0.73 |
|
| 2014 |
VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Human Mutation. 35: 945-8. PMID 24777739 DOI: 10.1002/Humu.22581 |
0.775 |
|
| 2014 |
Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N. Functional characterization of SIM1-associated enhancers. Human Molecular Genetics. 23: 1700-8. PMID 24203700 DOI: 10.1093/Hmg/Ddt559 |
0.773 |
|
| 2014 |
Vandermeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N. A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form Human Mutation. 35: 945-948. DOI: 10.1002/humu.22581 |
0.742 |
|
| 2013 |
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, et al. Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations. Nature. 504: 306-10. PMID 24213634 DOI: 10.1038/Nature12716 |
0.388 |
|
| 2013 |
Taher L, Smith RP, Kim MJ, Ahituv N, Ovcharenko I. Sequence signatures extracted from proximal promoters can be used to predict distal enhancers. Genome Biology. 14: R117. PMID 24156763 DOI: 10.1186/Gb-2013-14-10-R117 |
0.738 |
|
| 2013 |
Zhao J, Shi H, Ahituv N. Classification of topological domains based on gene expression and regulation Genome. 56: 415-423. PMID 24099394 DOI: 10.1139/Gen-2013-0111 |
0.378 |
|
| 2013 |
Booker BM, Murphy KK, Ahituv N. Functional analysis of limb enhancers in the developing fin. Development Genes and Evolution. 223: 395-9. PMID 24068387 DOI: 10.1007/S00427-013-0453-9 |
0.44 |
|
| 2013 |
Oksenberg N, Ahituv N. The role of AUTS2 in neurodevelopment and human evolution Trends in Genetics. 29: 600-608. PMID 24008202 DOI: 10.1016/J.Tig.2013.08.001 |
0.793 |
|
| 2013 |
Smith RP, Taher L, Patwardhan RP, Kim MJ, Inoue F, Shendure J, Ovcharenko I, Ahituv N. Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model. Nature Genetics. 45: 1021-8. PMID 23892608 DOI: 10.1038/Ng.2713 |
0.726 |
|
| 2013 |
Smith RP, Riesenfeld SJ, Holloway AK, Li Q, Murphy KK, Feliciano NM, Orecchia L, Oksenberg N, Pollard KS, Ahituv N. A compact, in vivo screen of all 6-mers reveals drivers of tissue-specific expression and guides synthetic regulatory element design. Genome Biology. 14: R72. PMID 23867016 DOI: 10.1186/Gb-2013-14-7-R72 |
0.799 |
|
| 2013 |
Kim MJ, Ahituv N. The hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers Methods in Molecular Biology. 1015: 279-289. PMID 23824863 DOI: 10.1007/978-1-62703-435-7_18 |
0.684 |
|
| 2013 |
Oksenberg N, Stevison L, Wall JD, Ahituv N. Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution Plos Genetics. 9. PMID 23349641 DOI: 10.1371/Journal.Pgen.1003221 |
0.808 |
|
| 2012 |
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, et al. Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. Nature. 488: 642-6. PMID 22932389 DOI: 10.1038/Nature11399 |
0.331 |
|
| 2012 |
Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Human Molecular Genetics. 21: 4930-8. PMID 22914741 DOI: 10.1093/Hmg/Dds336 |
0.43 |
|
| 2012 |
Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G. Human developmental enhancers conserved between deuterostomes and protostomes. Plos Genetics. 8: e1002852. PMID 22876195 DOI: 10.1371/Journal.Pgen.1002852 |
0.802 |
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| 2012 |
Vandermeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly American Journal of Medical Genetics, Part A. 158: 2031-2035. PMID 22786669 DOI: 10.1002/Ajmg.A.35473 |
0.766 |
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| 2012 |
Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT. Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. American Journal of Medical Genetics. Part A. 158: 1620-7. PMID 22678995 DOI: 10.1002/Ajmg.A.35418 |
0.758 |
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| 2012 |
Smith RP, Lam ET, Markova S, Yee SW, Ahituv N. Pharmacogene regulatory elements: from discovery to applications. Genome Medicine. 4: 45. PMID 22630332 DOI: 10.1186/Gm344 |
0.375 |
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| 2012 |
Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Human Mutation. 33: 1063-6. PMID 22495965 DOI: 10.1002/Humu.22097 |
0.803 |
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| 2012 |
Birnbaum RY, Clowney EJ, Agamy O, Kim MJ, Zhao J, Yamanaka T, Pappalardo Z, Clarke SL, Wenger AM, Nguyen L, Gurrieri F, Everman DB, Schwartz CE, Birk OS, Bejerano G, ... ... Ahituv N, et al. Coding exons function as tissue-specific enhancers of nearby genes. Genome Research. 22: 1059-68. PMID 22442009 DOI: 10.1101/Gr.133546.111 |
0.768 |
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| 2012 |
Patwardhan RP, Hiatt JB, Witten DM, Kim MJ, Smith RP, May D, Lee C, Andrie JM, Lee SI, Cooper GM, Ahituv N, Pennacchio LA, Shendure J. Massively parallel functional dissection of mammalian enhancers in vivo. Nature Biotechnology. 30: 265-70. PMID 22371081 DOI: 10.1038/Nbt.2136 |
0.764 |
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| 2011 |
Ahituv N. Location, Location, Cis-mutation Human Mutation. 32: iv. PMID 22083934 DOI: 10.1002/Humu.21638 |
0.322 |
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| 2011 |
Vandermeer JE, Ahituv N. cis-regulatory mutations are a genetic cause of human limb malformations Developmental Dynamics. 240: 920-930. PMID 21509892 DOI: 10.1002/Dvdy.22535 |
0.783 |
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| 2011 |
Kim MJ, Skewes-Cox P, Fukushima H, Hesselson S, Yee SW, Ramsey LB, Nguyen L, Eshragh JL, Castro RA, Wen CC, Stryke D, Johns SJ, Ferrin TE, Kwok PY, Relling MV, ... ... Ahituv N, et al. Functional characterization of liver enhancers that regulate drug-associated transporters. Clinical Pharmacology and Therapeutics. 89: 571-8. PMID 21368754 DOI: 10.1038/clpt.2010.353 |
0.718 |
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| 2011 |
Vandermeer JE, Ahituv N. Cis-regulatory enhancer mutations are a cause of human limb malformations Gene Regulatory Sequences and Human Disease. 73-93. DOI: 10.1007/978-1-4614-1683-8_5 |
0.761 |
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| 2009 |
Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, Castro RA, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Goo Lee M, Black BL, Ahituv N, et al. Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1 Pharmacogenetics and Genomics. 19: 770-780. PMID 19745787 DOI: 10.1097/Fpc.0B013E328330Eeca |
0.715 |
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| 2009 |
Yee SW, Shima JE, Hesselson S, Nguyen L, De Val S, Lafond RJ, Kawamoto M, Johns SJ, Stryke D, Kwok PY, Ferrin TE, Black BL, Gurwitz D, Ahituv N, Giacomini KM. Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2). The Journal of Pharmacology and Experimental Therapeutics. 328: 699-707. PMID 19098160 DOI: 10.1124/Jpet.108.147207 |
0.422 |
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| 2009 |
Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C. Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. Human Molecular Genetics. 18: 1140-7. PMID 19091795 DOI: 10.1093/Hmg/Ddn431 |
0.331 |
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| 2008 |
Svenson KL, Ahituv N, Durgin RS, Savage H, Magnani PA, Foreman O, Paigen B, Peters LL. A new mouse mutant for the LDL receptor identified using ENU mutagenesis Journal of Lipid Research. 49: 2452-2462. PMID 18632552 DOI: 10.1194/Jlr.M800303-Jlr200 |
0.388 |
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| 2008 |
Goren A, Kim E, Amit M, Bochner R, Lev-Maor G, Ahituv N, Ast G. Alternative approach to a heavy weight problem. Genome Research. 18: 214-20. PMID 18096750 DOI: 10.1101/Gr.6661308 |
0.419 |
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| 2007 |
Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA. In vivo characterization of human APOA5 haplotypes Genomics. 90: 674-679. PMID 17936576 DOI: 10.1016/J.Ygeno.2007.08.003 |
0.327 |
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| 2007 |
Costford SR, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, Harper ME. Gain-of-function R225W mutation in human AMPKγ3 causing increased glycogen and decreased triglyceride in skeletal muscle Plos One. 2. PMID 17878938 DOI: 10.1371/Journal.Pone.0000903 |
0.342 |
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| 2007 |
Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM. Deletion of ultraconserved elements yields viable mice. Plos Biology. 5: e234. PMID 17803355 DOI: 10.1371/Journal.Pbio.0050234 |
0.442 |
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| 2007 |
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, et al. Medical sequencing at the extremes of human body mass. American Journal of Human Genetics. 80: 779-91. PMID 17357083 DOI: 10.1086/513471 |
0.346 |
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| 2006 |
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, et al. In vivo enhancer analysis of human conserved non-coding sequences. Nature. 444: 499-502. PMID 17086198 DOI: 10.1038/Nature05295 |
0.48 |
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| 2006 |
Bejerano G, Lowe CB, Ahituv N, King B, Siepel A, Salama SR, Rubin EM, Kent WJ, Haussler D. A distal enhancer and an ultraconserved exon are derived from a novel retroposon. Nature. 441: 87-90. PMID 16625209 DOI: 10.1038/Nature04696 |
0.491 |
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| 2006 |
Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Collier JM, Hébert S, Doelle H, Dent R, Pennacchio LA, McPherson R. A PYY Q62P variant linked to human obesity Human Molecular Genetics. 15: 387-391. PMID 16368708 DOI: 10.1093/Hmg/Ddi455 |
0.33 |
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| 2005 |
Ahituv N, Prabhakar S, Poulin F, Rubin EM, Couronne O. Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny. Human Molecular Genetics. 14: 3057-63. PMID 16155111 DOI: 10.1093/Hmg/Ddi338 |
0.443 |
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| 2005 |
Baroukh N, Ahituv N, Chang J, Shoukry M, Afzal V, Rubin EM, Pennacchio LA. Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene Mammalian Genome. 16: 91-95. PMID 15859353 DOI: 10.1007/S00335-004-2442-9 |
0.47 |
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| 2004 |
Ahituv N, Rubin EM, Nobrega MA. Exploiting human - Fish genome comparisons for deciphering gene regulation Human Molecular Genetics. 13: R261-R266. PMID 15358733 DOI: 10.1093/Hmg/Ddh229 |
0.42 |
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| 2004 |
Ahituv N, Erven A, Fuchs H, Guy K, Ashery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP. An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 15: 424-32. PMID 15181535 DOI: 10.1007/S00335-004-2334-Z |
0.392 |
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| 2002 |
Ahituv N, Avraham KB. Mouse models for human deafness: current tools for new fashions. Trends in Molecular Medicine. 8: 447-51. PMID 12223317 DOI: 10.1016/S1471-4914(02)02388-2 |
0.377 |
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| 2001 |
Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. American Journal of Human Genetics. 69: 635-40. PMID 11468689 DOI: 10.1086/323156 |
0.382 |
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| 2001 |
Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrabé de Angelis M. The Notch ligand Jagged1 is required for inner ear sensory development. Proceedings of the National Academy of Sciences of the United States of America. 98: 3873-8. PMID 11259677 DOI: 10.1073/Pnas.071496998 |
0.317 |
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| 2000 |
Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB. Genomic structure of the human unconventional myosin VI gene. Gene. 261: 269-75. PMID 11167014 DOI: 10.1016/S0378-1119(00)00535-7 |
0.434 |
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| 2000 |
Ahituv N, Avraham KB. Auditory and vestibular mouse mutants: models for human deafness. Journal of Basic and Clinical Physiology and Pharmacology. 11: 181-91. PMID 11041382 DOI: 10.1515/Jbcpp.2000.11.3.181 |
0.362 |
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| 1998 |
Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science (New York, N.Y.). 279: 1950-4. PMID 9506947 DOI: 10.1126/Science.279.5358.1950 |
0.359 |
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