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Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements. Nat Commun. 2024 Sep 18; 15(1):8209.
Chardon FM, McDiarmid TA, Page NF, Daza RM, Martin BK, Domcke S, Regalado SG, Lalanne JB, Calderon D, Li X, Starita LM, Sanders SJ, Ahituv N, Shendure J. PMID: 39294132; PMCID: PMC11411074.
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PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Comprehensive network modeling approaches unravel dynamic enhancer-promoter interactions across neural differentiation. Genome Biol. 2024 Aug 14; 25(1):221.
DeGroat W, Inoue F, Ashuach T, Yosef N, Ahituv N, Kreimer A. PMID: 39143563; PMCID: PMC11323586.
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PubMed Mentions: Fields:
Translation:
HumansCells
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Deletion of an evolutionarily conserved TAD boundary compromises spermatogenesis in mice. bioRxiv. 2024 Jul 10.
Lima AC, Okhovat M, Stendahl AM, VanCampen J, Nevonen KA, Herrera J, Li W, Harshman L, Yang R, Fedorov LM, Vigh-Conrad KA, Ahituv N, Conrad DF, Carbone L. PMID: 39026739; PMCID: PMC11257473.
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PubMed Mentions:
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Genetic regulation of cell type-specific chromatin accessibility shapes brain disease etiology. Science. 2024 May 24; 384(6698):eadh4265.
Zeng B, Bendl J, Deng C, Lee D, Misir R, Reach SM, Kleopoulos SP, Auluck P, Marenco S, Lewis DA, Haroutunian V, Ahituv N, Fullard JF, Hoffman GE, Roussos P. PMID: 38781378.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Massively parallel characterization of regulatory elements in the developing human cortex. Science. 2024 May 24; 384(6698):eadh0559.
Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM, PsychENCODE Consortium‡, Pollen AA, Nowakowski TJ, Ahituv N, Pollard KS, PsychENCODE Consortium. PMID: 38781390.
View in:
PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Comprehensive network modeling approaches unravel dynamic enhancer-promoter interactions across neural differentiation. bioRxiv. 2024 May 23.
DeGroat W, Inoue F, Ashuach T, Yosef N, Ahituv N, Kreimer A. PMID: 38826254; PMCID: PMC11142193.
View in:
PubMed Mentions:
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Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements. bioRxiv. 2024 Apr 30.
Chardon FM, McDiarmid TA, Page NF, Daza RM, Martin B, Domcke S, Regalado SG, Lalanne JB, Calderon D, Li X, Starita LM, Sanders SJ, Ahituv N, Shendure J. PMID: 37034704; PMCID: PMC10081248.
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PubMed Mentions:
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Massively parallel reporter assays and mouse transgenic assays provide complementary information about neuronal enhancer activity. bioRxiv. 2024 Apr 23.
Kosicki M, Cintrón DL, Page NF, Georgakopoulos-Soares I, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Barton S, Godfrey P, Beckman E, Sanders SJ, Pennacchio LA, Ahituv N. PMID: 38712228; PMCID: PMC11071441.
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PubMed Mentions:
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Massively parallel jumping assay decodes Alu retrotransposition activity. bioRxiv. 2024 Apr 19.
Matharu N, Zhao J, Sohota A, Deng L, Hung Y, Li Z, Sims J, Rattanasopha S, Meyer J, Carbone L, Kircher M, Ahituv N. PMID: 38659854; PMCID: PMC11042287.
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PubMed Mentions:
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Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality. Cell Rep. 2024 Mar 26; 43(3):113907.
Ushiki A, Sheng RR, Zhang Y, Zhao J, Nobuhara M, Murray E, Ruan X, Rios JJ, Wise CA, Ahituv N. PMID: 38461417; PMCID: PMC11005513.
View in:
PubMed Mentions:
1 Fields:
Translation:
Animals
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Author Correction: Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation. Nat Metab. 2024 Mar; 6(3):598.
Inoue F, Eckalbar WL, Wang Y, Murphy KK, Matharu N, Vaisse C, Ahituv N. PMID: 38429391.
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PubMed Mentions: Fields:
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Optimizing sequence design strategies for perturbation MPRAs: a computational evaluation framework. Nucleic Acids Res. 2024 Feb 28; 52(4):1613-1627.
Liu J, Ashuach T, Inoue F, Ahituv N, Yosef N, Kreimer A. PMID: 38296821; PMCID: PMC10939410.
View in:
PubMed Mentions:
2 Fields:
Translation:
Cells
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Author Correction: Integrative single-cell characterization of a frugivorous and an insectivorous bat kidney and pancreas. Nat Commun. 2024 Feb 27; 15(1):1777.
Gordon WE, Baek S, Nguyen HP, Kuo YM, Bradley R, Fong SL, Kim N, Galazyuk A, Lee I, Ingala MR, Simmons NB, Schountz T, Cooper LN, Georgakopoulos-Soares I, Hemberg M, Ahituv N. PMID: 38413559; PMCID: PMC10899600.
View in:
PubMed Mentions: Fields:
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Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD. Neuron. 2024 May 01; 112(9):1444-1455.e5.
Wang C, Derderian KD, Hamada E, Zhou X, Nelson AD, Kyoung H, Ahituv N, Bouvier G, Bender KJ. PMID: 38412857; PMCID: PMC11065582.
View in:
PubMed Mentions:
5 Fields:
Translation:
HumansAnimalsCells
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Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids. Sci Rep. 2024 02 16; 14(1):3936.
Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford GE, Ahituv N, Abyzov A, Vaccarino FM. PMID: 38365907; PMCID: PMC10873509.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis. Elife. 2024 Jan 26; 12.
Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng RR, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. PMID: 38277211; PMCID: PMC10945706.
View in:
PubMed Mentions: Fields:
Translation:
HumansAnimals
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Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis. eLife. 2024 Jan 26; 12.
Yu YH, Khanshour KA, Ushiki UA, Otomo ON, Koike KY, Einarsdottir EE, Fan FY, Antunes AL, Kidane KY, Cornelia CR, Sheng SR, Zhang ZY, Pei PJ, Grishin GN, Evers EB, Cheung CJ, Herring HJ, Terao TC, Song SY, Gurnett GC, Gerdhem GP, Ikegawa IS, Rios RJ, Ahituv AN, Wise WC. .
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Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans. Nat Genet. 2024 Feb; 56(2):258-272.
Feng Y, Xie N, Inoue F, Fan S, Saskin J, Zhang C, Zhang F, Hansen MEB, Nyambo T, Mpoloka SW, Mokone GG, Fokunang C, Belay G, Njamnshi AK, Marks MS, Oancea E, Ahituv N, Tishkoff SA. PMID: 38200130; PMCID: PMC11005318.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
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Integrative single-cell characterization of a frugivorous and an insectivorous bat kidney and pancreas. Nat Commun. 2024 01 09; 15(1):12.
Gordon WE, Baek S, Nguyen HP, Kuo YM, Bradley R, Fong SL, Kim N, Galazyuk A, Lee I, Ingala MR, Simmons NB, Schountz T, Cooper LN, Georgakopoulos-Soares I, Hemberg M, Ahituv N. PMID: 38195585; PMCID: PMC10776631.
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PubMed Mentions: Fields:
Translation:
HumansAnimalsCells
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TAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function. Nat Commun. 2023 Dec 07; 14(1):8111.
Okhovat M, VanCampen J, Nevonen KA, Harshman L, Li W, Layman CE, Ward S, Herrera J, Wells J, Sheng RR, Mao Y, Ndjamen B, Lima AC, Vigh-Conrad KA, Stendahl AM, Yang R, Fedorov L, Matthews IR, Easow SA, Chan DK, Jan TA, Eichler EE, Rugonyi S, Conrad DF, Ahituv N, Carbone L. PMID: 38062027; PMCID: PMC10703881.
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PubMed Mentions:
8 Fields:
Translation:
HumansAnimalsCells
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Author Correction: Chromatin compartmentalization regulates the response to DNA damage. Nature. 2023 Dec; 624(7990):E1.
Arnould C, Rocher V, Saur F, Bader AS, Muzzopappa F, Collins S, Lesage E, Le Bozec B, Puget N, Clouaire T, Mangeat T, Mourad R, Ahituv N, Noordermeer D, Erdel F, Bushell M, Marnef A, Legube G. PMID: 37974007; PMCID: PMC10700127.
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PubMed Mentions: Fields:
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MPRAbase: A Massively Parallel Reporter Assay Database. bioRxiv. 2023 Nov 22.
Zhao J, Baltoumas FA, Konnaris MA, Mouratidis I, Liu Z, Sims J, Agarwal V, Pavlopoulos GA, Georgakopoulos-Soares I, Ahituv N. PMID: 38045264; PMCID: PMC10690217.
View in:
PubMed Mentions:
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Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis. bioRxiv. 2023 Nov 22.
Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. PMID: 37292598; PMCID: PMC10245954.
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PubMed Mentions:
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Chromatin compartmentalization regulates the response to DNA damage. Nature. 2023 Nov; 623(7985):183-192.
Arnould C, Rocher V, Saur F, Bader AS, Muzzopappa F, Collins S, Lesage E, Le Bozec B, Puget N, Clouaire T, Mangeat T, Mourad R, Ahituv N, Noordermeer D, Erdel F, Bushell M, Marnef A, Legube G. PMID: 37853125; PMCID: PMC10620078.
View in:
PubMed Mentions:
25 Fields:
Translation:
AnimalsCells
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Best practices for perturbation MPRA-a computational evaluation framework of sequence design strategies. bioRxiv. 2023 Sep 29.
Liu J, Ashuach T, Inoue F, Ahituv N, Yosef N, Kreimer A. PMID: 37808807; PMCID: PMC10557651.
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PubMed Mentions:
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Milk antibody response after 3rd COVID-19 vaccine and SARS-CoV-2 infection and implications for infant protection. iScience. 2023 Oct 20; 26(10):107767.
Golan Y, Ilala M, Li L, Gay C, Hunagund S, Lin CY, Cassidy AG, Jigmeddagva U, Matsui Y, Ozarslan N, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL, Prahl M. PMID: 37731614; PMCID: PMC10507209.
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PubMed Mentions:
6
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Characterization of enhancer activity in early human neurodevelopment using Massively parallel reporter assay (MPRA) and forebrain organoids. bioRxiv. 2023 Aug 14.
Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford GE, PsychENCODE Consortium, Ahituv N, Abyzov A, Vaccarino FM. PMID: 37645832; PMCID: PMC10461976.
View in:
PubMed Mentions:
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Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD. bioRxiv. 2023 Jun 07.
Wang C, Derderian KD, Hamada E, Zhou X, Nelson AD, Kyoung H, Ahituv N, Bouvier G, Bender KJ. PMID: 37333267; PMCID: PMC10274749.
View in:
PubMed Mentions:
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Three-dimensional genome rewiring in loci with human accelerated regions. Science. 2023 04 28; 380(6643):eabm1696.
Keough KC, Whalen S, Inoue F, Przytycki PF, Fair T, Deng C, Steyert M, Ryu H, Lindblad-Toh K, Karlsson E, Zoonomia Consortium§, Nowakowski T, Ahituv N, Pollen A, Pollard KS. PMID: 37104607; PMCID: PMC10999243.
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PubMed Mentions:
26 Fields:
Translation:
HumansAnimalsCells
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Quasi-prime peptides: identification of the shortest peptide sequences unique to a species. NAR Genom Bioinform. 2023 Jun; 5(2):lqad039.
Mouratidis I, Chan CSY, Chantzi N, Tsiatsianis GC, Hemberg M, Ahituv N, Georgakopoulos-Soares I. PMID: 37101657; PMCID: PMC10124967.
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PubMed Mentions:
7
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Transcription factor binding site orientation and order are major drivers of gene regulatory activity. Nat Commun. 2023 04 22; 14(1):2333.
Georgakopoulos-Soares I, Deng C, Agarwal V, Chan CSY, Zhao J, Inoue F, Ahituv N. PMID: 37087538; PMCID: PMC10122648.
View in:
PubMed Mentions:
16 Fields:
Translation:
HumansCells
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Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality. bioRxiv. 2023 Apr 13.
Ushiki A, Sheng RR, Zhang Y, Zhao J, Nobuhara M, Murray E, Ruan X, Rios JJ, Wise CA, Ahituv N. PMID: 37090618; PMCID: PMC10120660.
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PubMed Mentions:
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Abstract 991: Leveraging sequences missing from the human genome to detect cancer. Cancer Research. 2023 Apr 4; 83(7_Supplement):991-991.
Barnea BO, Georgakopoulos-Soares GI, Ahituv AN, Chapman CJ, Hemberg HM, Mouratidis MI, Syrigos SK, Syrigos SN, Vathiotis VI, Mahajan MM, Panagiotou PE, Charpidou CA, Kvale KM, Chan CC, Easterlin ER. .
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Publisher Site Mentions:
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Implantation of engineered adipocytes that outcompete tumors for resources suppresses cancer progression. bioRxiv. 2023 Mar 29.
Nguyen HP, Sheng R, Murray E, Ito Y, Bruck M, Biellak C, An K, Lynce F, Dillon DA, Magbanua MJM, Huppert LA, Hammerlindl H, Esserman L, Rosenbluth JM, Ahituv N. PMID: 37034710; PMCID: PMC10081280.
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PubMed Mentions:
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TAD Evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function. bioRxiv. 2023 Mar 07.
Okhovat M, VanCampen J, Lima AC, Nevonen KA, Layman CE, Ward S, Herrera J, Stendahl AM, Yang R, Harshman L, Li W, Sheng RR, Mao Y, Fedorov L, Ndjamen B, Vigh-Conrad KA, Matthews IR, Easow SA, Chan DK, Jan TA, Eichler EE, Rugonyi S, Conrad DF, Ahituv N, Carbone L. PMID: 36945527; PMCID: PMC10028908.
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PubMed Mentions:
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Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types. bioRxiv. 2023 Mar 06.
Agarwal V, Inoue F, Schubach M, Martin BK, Dash PM, Zhang Z, Sohota A, Noble WS, Yardimci GG, Kircher M, Shendure J, Ahituv N. PMID: 36945371; PMCID: PMC10028905.
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PubMed Mentions:
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Genetic regulation of cell-type specific chromatin accessibility shapes the etiology of brain diseases. bioRxiv. 2023 Mar 02.
Zeng B, Bendl J, Deng C, Lee D, Misir R, Reach SM, Kleopoulos SP, Auluck P, Marenco S, Lewis DA, Haroutunian V, Ahituv N, Fullard JF, Hoffman GE, Roussos P. PMID: 37090548; PMCID: PMC10120699.
View in:
PubMed Mentions:
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Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex. bioRxiv. 2023 Feb 16.
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. PMID: 36824845; PMCID: PMC9949039.
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PubMed Mentions:
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Integrative single-cell characterization of frugivory adaptations in the bat kidney and pancreas. bioRxiv. 2023 Feb 13.
Gordon WE, Baek S, Nguyen HP, Kuo YM, Bradley R, Galazyuk A, Lee I, Ingala MR, Simmons NB, Schountz T, Cooper LN, Georgakopoulos-Soares I, Hemberg M, Ahituv N. PMID: 36824791; PMCID: PMC9949079.
View in:
PubMed Mentions:
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Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays. Int J Mol Sci. 2023 Feb 09; 24(4).
Koesterich J, An JY, Inoue F, Sohota A, Ahituv N, Sanders SJ, Kreimer A. PMID: 36834916; PMCID: PMC9959321.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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Risk scoring based on DNA methylation-driven related DEGs for colorectal cancer prognosis with systematic insights. Life Sci. 2023 Mar 01; 316:121413.
Liu Z, Georgakopoulos-Soares I, Ahituv N, Wong KC. PMID: 36682524.
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PubMed Mentions:
3 Fields:
Translation:
HumansCells
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Machine learning dissection of human accelerated regions in primate neurodevelopment. Neuron. 2023 03 15; 111(6):857-873.e8.
Whalen S, Inoue F, Ryu H, Fair T, Markenscoff-Papadimitriou E, Keough K, Kircher M, Martin B, Alvarado B, Elor O, Laboy Cintron D, Williams A, Hassan Samee MA, Thomas S, Krencik R, Ullian EM, Kriegstein A, Rubenstein JL, Shendure J, Pollen AA, Ahituv N, Pollard KS. PMID: 36640767; PMCID: PMC10023452.
View in:
PubMed Mentions:
27 Fields:
Translation:
HumansAnimalsCells
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Milk antibody response after 3rd dose of COVID-19 mRNA vaccine and SARS-CoV-2 breakthrough infection and implications for infant protection. medRxiv. 2022 Dec 14.
Golan Y, Ilala M, Gay C, Hunagund S, Lin CY, Cassidy AG, Jigmeddagva U, Li L, Ozarslan N, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL, Prahl M. PMID: 36561188; PMCID: PMC9774223.
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PubMed Mentions:
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Genomic characterization and therapeutic utilization of IL-13-responsive sequences in asthma. Cell Genom. 2023 Jan 11; 3(1):100229.
Koh KD, Bonser LR, Eckalbar WL, Yizhar-Barnea O, Shen J, Zeng X, Hargett KL, Sun DI, Zlock LT, Finkbeiner WE, Ahituv N, Erle DJ. PMID: 36777184; PMCID: PMC9903679.
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PubMed Mentions:
6 Fields:
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Author Correction: High-throughput techniques enable advances in the roles of DNA and RNA secondary structures in transcriptional and post-transcriptional gene regulation. Genome Biol. 2022 Jul 27; 23(1):164.
Georgakopoulos-Soares I, Chan CSY, Ahituv N, Hemberg M. PMID: 35897074; PMCID: PMC9327390.
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PubMed Mentions: Fields:
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High-throughput techniques enable advances in the roles of DNA and RNA secondary structures in transcriptional and post-transcriptional gene regulation. Genome Biol. 2022 07 18; 23(1):159.
Georgakopoulos-Soares I, Chan CSY, Ahituv N, Hemberg M. PMID: 35851062; PMCID: PMC9290270.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis. Hum Mol Genet. 2022 07 07; 31(13):2279-2293.
Choquet H, Li W, Yin J, Bradley R, Hoffmann TJ, Nandakumar P, 23 and Me Research Team, Mostaedi R, Tian C, Ahituv N, Jorgenson E. PMID: 35022708; PMCID: PMC9262393.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Cellular and transcriptional diversity over the course of human lactation. Proc Natl Acad Sci U S A. 2022 04 12; 119(15):e2121720119.
Nyquist SK, Gao P, Haining TKJ, Retchin MR, Golan Y, Drake RS, Kolb K, Mead BE, Ahituv N, Martinez ME, Shalek AK, Berger B, Goods BA. PMID: 35377806; PMCID: PMC9169737.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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Massively parallel reporter perturbation assays uncover temporal regulatory architecture during neural differentiation. Nat Commun. 2022 03 21; 13(1):1504.
Kreimer A, Ashuach T, Inoue F, Khodaverdian A, Deng C, Yosef N, Ahituv N. PMID: 35315433; PMCID: PMC8938438.
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PubMed Mentions:
21 Fields:
Translation:
Cells
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High-throughput characterization of the role of non-B DNA motifs on promoter function. Cell Genom. 2022 Apr 13; 2(4).
Georgakopoulos-Soares I, Victorino J, Parada GE, Agarwal V, Zhao J, Wong HY, Umar MI, Elor O, Muhwezi A, An JY, Sanders SJ, Kwok CK, Inoue F, Hemberg M, Ahituv N. PMID: 35573091; PMCID: PMC9105345.
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PubMed Mentions:
17 Fields:
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COVID-19 mRNA Vaccination in Lactation: Assessment of Adverse Events and Vaccine Related Antibodies in Mother-Infant Dyads. Front Immunol. 2021; 12:777103.
Golan Y, Prahl M, Cassidy AG, Gay C, Wu AHB, Jigmeddagva U, Lin CY, Gonzalez VJ, Basilio E, Chidboy MA, Warrier L, Buarpung S, Li L, Murtha AP, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL. PMID: 34804068; PMCID: PMC8595828.
View in:
PubMed Mentions:
45 Fields:
Translation:
HumansCellsCTClinical Trials
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Oestrogen engages brain MC4R signalling to drive physical activity in female mice. Nature. 2021 11; 599(7883):131-135.
Krause WC, Rodriguez R, Gegenhuber B, Matharu N, Rodriguez AN, Padilla-Roger AM, Toma K, Herber CB, Correa SM, Duan X, Ahituv N, Tollkuhn J, Ingraham HA. PMID: 34646010; PMCID: PMC9113400.
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PubMed Mentions:
43 Fields:
Translation:
AnimalsCells
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Single-cell epigenomics reveals mechanisms of human cortical development. Nature. 2021 10; 598(7879):205-213.
Ziffra RS, Kim CN, Ross JM, Wilfert A, Turner TN, Haeussler M, Casella AM, Przytycki PF, Keough KC, Shin D, Bogdanoff D, Kreimer A, Pollard KS, Ament SA, Eichler EE, Ahituv N, Nowakowski TJ. PMID: 34616060; PMCID: PMC8494642.
View in:
PubMed Mentions:
110 Fields:
Translation:
HumansCells
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View in:
PubMed Mentions:
30 Fields:
Translation:
HumansCells
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COVID-19 mRNA Vaccination in Lactation: Assessment of adverse events and vaccine related antibodies in mother-infant dyads. medRxiv. 2021 Sep 16.
Golan Y, Prahl M, Cassidy AG, Gay C, Wu AHB, Jigmeddagva U, Lin CY, Gonzalez VJ, Basilio E, Warrier L, Buarpung S, Li L, Murtha AP, Asiodu IV, Ahituv N, Flaherman VJ, Gaw SL. PMID: 34373861; PMCID: PMC8351783.
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PubMed Mentions:
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Absent from DNA and protein: genomic characterization of nullomers and nullpeptides across functional categories and evolution. Genome Biol. 2021 08 25; 22(1):245.
Georgakopoulos-Soares I, Yizhar-Barnea O, Mouratidis I, Hemberg M, Ahituv N. PMID: 34433494; PMCID: PMC8386077.
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PubMed Mentions:
11 Fields:
Translation:
HumansAnimalsCells
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Author Correction: lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nat Protoc. 2021 Jul; 16(7):3736.
Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulos-Soares I, Yosef N, Ye CJ, Pollard KS, Shendure J, Kircher M, Ahituv N. PMID: 33128032.
View in:
PubMed Mentions:
2 Fields:
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The cis-regulatory effects of modern human-specific variants. Elife. 2021 04 22; 10.
Weiss CV, Harshman L, Inoue F, Fraser HB, Petrov DA, Ahituv N, Gokhman D. PMID: 33885362; PMCID: PMC8062137.
View in:
PubMed Mentions:
25 Fields:
Translation:
HumansCells
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Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nat Commun. 2021 04 16; 12(1):2282.
Ushiki A, Zhang Y, Xiong C, Zhao J, Georgakopoulos-Soares I, Kane L, Jamieson K, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Shen Y, Lettice LA, Silveira-Lucas EL, Petit F, Ahituv N. PMID: 33863876; PMCID: PMC8052326.
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PubMed Mentions:
20 Fields:
Translation:
HumansAnimalsCells
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Publisher Correction: Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. Nat Genet. 2021 Apr; 53(4):587.
Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK, Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H, Mishina Y, Wysocka J, Rohatgi R, Fraser HB. PMID: 33762754.
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PubMed Mentions: Fields:
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Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. Nat Genet. 2021 04; 53(4):467-476.
Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK, Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H, Mishina Y, Wysocka J, Rohatgi R, Fraser HB. PMID: 33731941; PMCID: PMC8038968.
View in:
PubMed Mentions:
27 Fields:
Translation:
HumansAnimalsCells
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Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome. Hum Mol Genet. 2021 01 21; 29(22):3606-3615.
Makki N, Zhao J, Liu Z, Eckalbar WL, Ushiki A, Khanshour AM, Wu J, Rios J, Gray RS, Wise CA, Ahituv N. PMID: 33179741; PMCID: PMC7823110.
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PubMed Mentions:
5 Fields:
Translation:
HumansCells
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Asymmetron: a toolkit for the identification of strand asymmetry patterns in biological sequences. Nucleic Acids Res. 2021 01 11; 49(1):e4.
Georgakopoulos-Soares I, Mouratidis I, Parada GE, Matharu N, Hemberg M, Ahituv N. PMID: 33211865; PMCID: PMC7797064.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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A systematic evaluation of the design and context dependencies of massively parallel reporter assays. Nat Methods. 2020 11; 17(11):1083-1091.
Klein JC, Agarwal V, Inoue F, Keith A, Martin B, Kircher M, Ahituv N, Shendure J. PMID: 33046894; PMCID: PMC7727316.
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PubMed Mentions:
88 Fields:
Translation:
HumansCells
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Modulating gene regulation to treat genetic disorders. Nat Rev Drug Discov. 2020 11; 19(11):757-775.
Matharu N, Ahituv N. PMID: 33020616.
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PubMed Mentions:
26 Fields:
Translation:
HumansAnimals
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Co-option of the lineage-specific LAVA retrotransposon in the gibbon genome. Proc Natl Acad Sci U S A. 2020 08 11; 117(32):19328-19338.
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. PMID: 32690705; PMCID: PMC7431028.
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PubMed Mentions:
10 Fields:
Translation:
AnimalsCells
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lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements. Nat Protoc. 2020 08; 15(8):2387-2412.
Gordon MG, Inoue F, Martin B, Schubach M, Agarwal V, Whalen S, Feng S, Zhao J, Ashuach T, Ziffra R, Kreimer A, Georgakopoulos-Soares I, Yosef N, Ye CJ, Pollard KS, Shendure J, Kircher M, Ahituv N. PMID: 32641802; PMCID: PMC7550205.
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PubMed Mentions:
50 Fields:
Translation:
Cells
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Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream of GDF15. Pharmacogenomics. 2020 06; 21(8):509-520.
Linhares ND, Pereira DA, Conceição IM, Franco GR, Eckalbar WL, Ahituv N, Luizon MR. PMID: 32427048.
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PubMed Mentions:
5 Fields:
Translation:
HumansCells
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The cartilage matrisome in adolescent idiopathic scoliosis. Bone Res. 2020; 8:13.
Wise CA, Sepich D, Ushiki A, Khanshour AM, Kidane YH, Makki N, Gurnett CA, Gray RS, Rios JJ, Ahituv N, Solnica-Krezel L. PMID: 32195011; PMCID: PMC7062733.
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PubMed Mentions:
18 Fields:
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Characterization of functional transposable element enhancers in acute myeloid leukemia. Sci China Life Sci. 2020 May; 63(5):675-687.
Zeng Y, Cao Y, Halevy RS, Nguyen P, Liu D, Zhang X, Ahituv N, Han JJ. PMID: 32170627.
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PubMed Mentions:
4 Fields:
Translation:
HumansAnimalsCells
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Comparative Genomic Characterization of the Multimammate Mouse Mastomys coucha. Mol Biol Evol. 2019 12 01; 36(12):2805-2812.
Hardin A, Nevonen KA, Eckalbar WL, Carbone L, Ahituv N. PMID: 31424545; PMCID: PMC6878952.
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PubMed Mentions:
5 Fields:
Translation:
AnimalsCells
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Dysregulation of STAT3 signaling is associated with endplate-oriented herniations of the intervertebral disc in Adgrg6 mutant mice. PLoS Genet. 2019 10; 15(10):e1008096.
Liu Z, Easson GWD, Zhao J, Makki N, Ahituv N, Hilton MJ, Tang SY, Gray RS. PMID: 31652254; PMCID: PMC6834287.
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PubMed Mentions:
16 Fields:
Translation:
HumansAnimalsCells
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Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction. Cell Stem Cell. 2019 Nov 07; 25(5):713-727.e10.
Inoue F, Kreimer A, Ashuach T, Ahituv N, Yosef N. PMID: 31631012; PMCID: PMC6850896.
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PubMed Mentions:
60 Fields:
Translation:
HumansCells
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CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency. . 2019 Sep 12.
N NM, S SR, S ST, L LM, Y YW, A AB, A AH, WL WE, C CV, N NA. .
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MPRAnalyze: statistical framework for massively parallel reporter assays. Genome Biol. 2019 09 02; 20(1):183.
Ashuach T, Fischer DS, Kreimer A, Ahituv N, Theis FJ, Yosef N. PMID: 31477158; PMCID: PMC6717970.
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PubMed Mentions:
45 Fields:
Translation:
HumansCells
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A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. Genet Med. 2020 01; 22(1):189-198.
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, Mohan C, Ahituv N, Malik S, Li QZ, Su P. PMID: 31395945; PMCID: PMC6944640.
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PubMed Mentions:
11 Fields:
Translation:
HumansAnimalsCells
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Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution. Nat Commun. 2019 08 08; 10(1):3583.
Kircher M, Xiong C, Martin B, Schubach M, Inoue F, Bell RJA, Costello JF, Shendure J, Ahituv N. PMID: 31395865; PMCID: PMC6687891.
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PubMed Mentions:
109 Fields:
Translation:
HumansCells
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Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay. Hum Mutat. 2019 09; 40(9):1280-1291.
Shigaki D, Adato O, Adhikari AN, Dong S, Hawkins-Hooker A, Inoue F, Juven-Gershon T, Kenlay H, Martin B, Patra A, Penzar DD, Schubach M, Xiong C, Yan Z, Boyle AP, Kreimer A, Kulakovskiy IV, Reid J, Unger R, Yosef N, Shendure J, Ahituv N, Kircher M, Beer MA. PMID: 31106481; PMCID: PMC6879779.
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PubMed Mentions:
32 Fields:
Translation:
HumansCells
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Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types. Hum Mutat. 2019 09; 40(9):1299-1313.
Kreimer A, Yan Z, Ahituv N, Yosef N. PMID: 31131957; PMCID: PMC6771677.
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PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation. Nat Metab. 2019 04; 1(4):475-484.
Inoue F, Eckalbar WL, Wang Y, Murphy KK, Matharu N, Vaisse C, Ahituv N. PMID: 31535083; PMCID: PMC6750255.
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PubMed Mentions:
9 Fields:
Translation:
HumansAnimalsCells
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A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Cell. 2019 Mar 07; 176(6):1516.
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. PMID: 30849375.
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PubMed Mentions:
48 Fields:
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Reply to Liu et al.: Tissue specificity of SIM1 gene expression and erectile dysfunction. Proc Natl Acad Sci U S A. 2019 02 26; 116(9):3349-3350.
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. PMID: 30755537; PMCID: PMC6397520.
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PubMed Mentions: Fields:
Translation:
Humans
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A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens. Cell. 2019 01 10; 176(1-2):377-390.e19.
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. PMID: 30612741; PMCID: PMC6690346.
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PubMed Mentions:
242 Fields:
Translation:
HumansCells
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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder. Science. 2018 12 14; 362(6420).
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, Klei L, Liang L, Markenscoff-Papadimitriou E, Pochareddy S, Ahituv N, Buxbaum JD, Coon H, Daly MJ, Kim YS, Marth GT, Neale BM, Quinlan AR, Rubenstein JL, Sestan N, State MW, Willsey AJ, Talkowski ME, Devlin B, Roeder K, Sanders SJ. PMID: 30545852; PMCID: PMC6432922.
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PubMed Mentions:
148 Fields:
Translation:
HumansCells
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CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency. Science. 2019 01 18; 363(6424).
Matharu N, Rattanasopha S, Tamura S, Maliskova L, Wang Y, Bernard A, Hardin A, Eckalbar WL, Vaisse C, Ahituv N. PMID: 30545847; PMCID: PMC6570489.
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PubMed Mentions:
133 Fields:
Translation:
AnimalsCells
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Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci. Hum Mol Genet. 2018 11 15; 27(22):3986-3998.
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, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA. PMID: 30395268; PMCID: PMC6488972.
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PubMed Mentions:
20 Fields:
Translation:
Humans
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A multidisciplinary review of triphalangeal thumb. J Hand Surg Eur Vol. 2019 Jan; 44(1):59-68.
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER. PMID: 30318985; PMCID: PMC6297887.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Genetic variation in the SIM1 locus is associated with erectile dysfunction. Proc Natl Acad Sci U S A. 2018 10 23; 115(43):11018-11023.
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. PMID: 30297428; PMCID: PMC6205494.
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PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma. Am J Respir Crit Care Med. 2018 06 15; 197(12):1552-1564.
Mak ACY, 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. PMID: 29509491; PMCID: PMC6006403.
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PubMed Mentions:
58 Fields:
Translation:
Humans
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Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome Res. 2018 05; 28(5):766.3.
Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. PMID: 29717003; PMCID: PMC5932618.
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PubMed Mentions:
1 Fields:
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Functional Characterization of Gene Regulatory Elements. The FASEB Journal. 2018 Apr 1; 32:20.2-20.2.
Ahituv AN. .
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Publisher Site Mentions:
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Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Hum Mutat. 2018 06; 39(6):811-815.
Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Kircher M, Ahituv N. PMID: 29524275; PMCID: PMC5992059.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome. Genet Med. 2018 11; 20(11):1405-1413.
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. PMID: 29543231.
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PubMed Mentions:
18 Fields:
Translation:
HumansAnimalsCells
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Rare Variants in the ABCG2 Promoter Modulate In Vivo Activity. Drug Metab Dispos. 2018 05; 46(5):636-642.
Eclov RJ, Kim MJ, Smith R, Ahituv N, Kroetz DL. PMID: 29467213; PMCID: PMC5896364.
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PubMed Mentions:
4 Fields:
Translation:
HumansCells
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ABCG2 regulatory single-nucleotide polymorphisms alter in vivo enhancer activity and expression. Pharmacogenet Genomics. 2017 Dec; 27(12):454-463.
Eclov RJ, Kim MJ, Chhibber A, Smith RP, Ahituv N, Kroetz DL. PMID: 28930109; PMCID: PMC5678922.
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PubMed Mentions:
2 Fields:
Translation:
HumansAnimalsCells
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CRISPR-Cas9-mediated functional dissection of 3'-UTRs. Nucleic Acids Res. 2017 Oct 13; 45(18):10800-10810.
Zhao W, Siegel D, Biton A, Tonqueze OL, Zaitlen N, Ahituv N, Erle DJ. PMID: 28985357; PMCID: PMC5737544.
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PubMed Mentions:
24 Fields:
Translation:
HumansCells
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Variant Interpretation: Functional Assays to the Rescue. Am J Hum Genet. 2017 Sep 07; 101(3):315-325.
Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM. PMID: 28886340; PMCID: PMC5590843.
View in:
PubMed Mentions:
169 Fields:
Translation:
Humans
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Use antibiotics in cell culture with caution: genome-wide identification of antibiotic-induced changes in gene expression and regulation. Sci Rep. 2017 08 08; 7(1):7533.
Ryu AH, Eckalbar WL, Kreimer A, Yosef N, Ahituv N. PMID: 28790348; PMCID: PMC5548911.
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PubMed Mentions:
49 Fields:
Translation:
HumansCells
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Gene Regulatory Elements, Major Drivers of Human Disease. Annu Rev Genomics Hum Genet. 2017 08 31; 18:45-63.
Chatterjee S, Ahituv N. PMID: 28399667.
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PubMed Mentions:
65 Fields:
Translation:
HumansCells
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Limb development: a paradigm of gene regulation. Nat Rev Genet. 2017 04; 18(4):245-258.
Petit F, Sears KE, Ahituv N. PMID: 28163321.
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PubMed Mentions:
63 Fields:
Translation:
HumansAnimalsCells
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Genomic Characterization of Metformin Hepatic Response. PLoS Genet. 2016 Nov; 12(11):e1006449.
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. PMID: 27902686; PMCID: PMC5130177.
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PubMed Mentions:
27 Fields:
Translation:
HumansCells
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In Vivo Hepatic Enhancer Elements in the Human ABCG2 Locus. Drug Metab Dispos. 2017 02; 45(2):208-215.
Eclov RJ, Kim MJ, Smith RP, Liang X, Ahituv N, Kroetz DL. PMID: 27856528; PMCID: PMC5267518.
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PubMed Mentions:
2 Fields:
Translation:
HumansAnimalsCells
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A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity. Genome Res. 2017 01; 27(1):38-52.
Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J. PMID: 27831498; PMCID: PMC5204343.
View in:
PubMed Mentions:
146 Fields:
Translation:
HumansCells
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Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus. PLoS Genet. 2016 Mar; 12(3):e1005738.
Booker BM, Friedrich T, Mason MK, VanderMeer JE, Zhao J, Eckalbar WL, Logan M, Illing N, Pollard KS, Ahituv N. PMID: 27019019; PMCID: PMC4809552.
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PubMed Mentions:
36 Fields:
Translation:
Animals
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Transcriptomic and epigenomic characterization of the developing bat wing. Nat Genet. 2016 05; 48(5):528-36.
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. PMID: 27019111; PMCID: PMC4848140.
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PubMed Mentions:
37 Fields:
Translation:
AnimalsCells
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Exonic enhancers: proceed with caution in exome and genome sequencing studies. Genome Med. 2016 Feb 08; 8(1):14.
Ahituv N. PMID: 26856702; PMCID: PMC4745165.
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PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Prenatal β-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors. Mol Psychiatry. 2016 10; 21(10):1417-33.
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. PMID: 26830142; PMCID: PMC5685528.
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PubMed Mentions:
42 Fields:
Translation:
HumansAnimalsCells
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A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. Nat Commun. 2015 Dec 21; 6:10130.
Jorgenson E, Makki N, Shen L, Chen DC, Tian C, Eckalbar WL, Hinds D, Ahituv N, Avins A. PMID: 26686553; PMCID: PMC4703831.
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PubMed Mentions:
38 Fields:
Translation:
HumansAnimals
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Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease. PLoS Genet. 2015 Dec; 11(12):e1005640.
Matharu N, Ahituv N. PMID: 26632825; PMCID: PMC4669122.
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PubMed Mentions:
35 Fields:
Translation:
HumansAnimalsCells
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The human ARF tumor suppressor senses blastema activity and suppresses epimorphic tissue regeneration. Elife. 2015 Nov 17; 4.
Hesse RG, Kouklis GK, Ahituv N, Pomerantz JH. PMID: 26575287; PMCID: PMC4657621.
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PubMed Mentions:
9 Fields:
Translation:
HumansAnimalsCells
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Uncovering drug-responsive regulatory elements. Pharmacogenomics. 2015 Nov; 16(16):1829-41.
Luizon MR, Ahituv N. PMID: 26555224; PMCID: PMC4716675.
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PubMed Mentions:
10 Fields:
Translation:
HumansAnimalsCells
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Functionally conserved enhancers with divergent sequences in distant vertebrates. BMC Genomics. 2015 Oct 30; 16:882.
Yang S, Oksenberg N, Takayama S, Heo SJ, Poliakov A, Ahituv N, Dubchak I, Boffelli D. PMID: 26519295; PMCID: PMC4628251.
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PubMed Mentions:
8 Fields:
Translation:
AnimalsCells
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Identification of novel Fgf enhancers and their role in dental evolution. Evol Dev. 2016 Jan-Feb; 18(1):31-40.
Tapaltsyan V, Charles C, Hu J, Mindell D, Ahituv N, Wilson GM, Black BL, Viriot L, Klein OD. PMID: 26086993; PMCID: PMC4826035.
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PubMed Mentions:
7 Fields:
Translation:
AnimalsCells
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Decoding enhancers using massively parallel reporter assays. Genomics. 2015 Sep; 106(3):159-164.
Inoue F, Ahituv N. PMID: 26072433; PMCID: PMC4540663.
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PubMed Mentions:
138 Fields:
Translation:
HumansCells
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A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Nat Commun. 2015 Mar 18; 6:6452.
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. PMID: 25784220; PMCID: PMC4365504.
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PubMed Mentions:
69 Fields:
Translation:
HumansAnimalsCells
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Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. PLoS Genet. 2014 Oct; 10(10):e1004592.
Birnbaum RY, Patwardhan RP, Kim MJ, Findlay GM, Martin B, Zhao J, Bell RJ, Smith RP, Ku AA, Shendure J, Ahituv N. PMID: 25340400; PMCID: PMC4207465.
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PubMed Mentions:
26 Fields:
Translation:
HumansAnimalsCells
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Enhancer interaction networks as a means for singular olfactory receptor expression. Cell. 2014 Oct 23; 159(3):543-57.
Markenscoff-Papadimitriou E, Allen WE, Colquitt BM, Goh T, Murphy KK, Monahan K, Mosley CP, Ahituv N, Lomvardas S. PMID: 25417106; PMCID: PMC4243057.
View in:
PubMed Mentions:
95 Fields:
Translation:
AnimalsCells
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Genome-wide discovery of drug-dependent human liver regulatory elements. PLoS Genet. 2014 Oct; 10(10):e1004648.
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. PMID: 25275310; PMCID: PMC4183418.
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PubMed Mentions:
27 Fields:
Translation:
HumansCells
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Genome-wide identification of signaling center enhancers in the developing limb. Development. 2014 Nov; 141(21):4194-8.
VanderMeer JE, Smith RP, Jones SL, Ahituv N. PMID: 25273087; PMCID: PMC4302890.
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PubMed Mentions:
13 Fields:
Translation:
Animals
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Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. Transl Psychiatry. 2014 Sep 02; 4:e431.
Oksenberg N, Haliburton GD, Eckalbar WL, Oren I, Nishizaki S, Murphy K, Pollard KS, Birnbaum RY, Ahituv N. PMID: 25180570; PMCID: PMC4199417.
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PubMed Mentions:
31 Fields:
Translation:
Animals
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Integrating diverse datasets improves developmental enhancer prediction. PLoS Comput Biol. 2014 Jun; 10(6):e1003677.
Erwin GD, Oksenberg N, Truty RM, Kostka D, Murphy KK, Ahituv N, Pollard KS, Capra JA. PMID: 24967590; PMCID: PMC4072507.
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PubMed Mentions:
78 Fields:
Translation:
HumansAnimalsCells
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A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Hum Mutat. 2014 Aug; 35(8):945-8.
VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N. PMID: 24777739; PMCID: PMC4110103.
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PubMed Mentions:
17 Fields:
Translation:
HumansAnimalsCells
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Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Mol Genet Genomic Med. 2014 Sep; 2(5):402-11.
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. PMID: 25333065; PMCID: PMC4190875.
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PubMed Mentions:
9 Fields:
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Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: replication and functional characterization of non-coding regions. PLoS One. 2014; 9(5):e96805.
Evans DS, Calton MA, Kim MJ, Kwok PY, Miljkovic I, Harris T, Koster A, Liu Y, Tranah GJ, Ahituv N, Hsueh WC, Vaisse C. PMID: 24820477; PMCID: PMC4018404.
View in:
PubMed Mentions:
15 Fields:
Translation:
HumansAnimals
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Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations. Nature. 2013 Dec 12; 504(7479):306-310.
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. PMID: 24213634; PMCID: PMC3954713.
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263 Fields:
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AnimalsCells
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Functional characterization of SIM1-associated enhancers. Hum Mol Genet. 2014 Apr 01; 23(7):1700-8.
Kim MJ, Oksenberg N, Hoffmann TJ, Vaisse C, Ahituv N. PMID: 24203700; PMCID: PMC3943516.
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8 Fields:
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HumansAnimalsCells
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Functional analysis of limb enhancers in the developing fin. Dev Genes Evol. 2013 Nov; 223(6):395-9.
Booker BM, Murphy KK, Ahituv N. PMID: 24068387; PMCID: PMC3869458.
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PubMed Mentions:
4 Fields:
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Animals
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Classification of topological domains based on gene expression and regulation. Genome. 2013 Jul; 56(7):415-23.
Zhao J, Shi H, Ahituv N. PMID: 24099394; PMCID: PMC3873163.
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1 Fields:
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AnimalsCells
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The role of AUTS2 in neurodevelopment and human evolution. Trends Genet. 2013 Oct; 29(10):600-8.
Oksenberg N, Ahituv N. PMID: 24008202; PMCID: PMC3823538.
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69 Fields:
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HumansAnimals
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Massively parallel decoding of mammalian regulatory sequences supports a flexible organizational model. Nat Genet. 2013 Sep; 45(9):1021-1028.
Smith RP, Taher L, Patwardhan RP, Kim MJ, Inoue F, Shendure J, Ovcharenko I, Ahituv N. PMID: 23892608; PMCID: PMC3775494.
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PubMed Mentions:
138 Fields:
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HumansAnimalsCells
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A compact, in vivo screen of all 6-mers reveals drivers of tissue-specific expression and guides synthetic regulatory element design. Genome Biol. 2013 Jul 18; 14(7):R72.
Smith RP, Riesenfeld SJ, Holloway AK, Li Q, Murphy KK, Feliciano NM, Orecchia L, Oksenberg N, Pollard KS, Ahituv N. PMID: 23867016; PMCID: PMC4054837.
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11 Fields:
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AnimalsCells
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Function and regulation of AUTS2, a gene implicated in autism and human evolution. PLoS Genet. 2013; 9(1):e1003221.
Oksenberg N, Stevison L, Wall JD, Ahituv N. PMID: 23349641; PMCID: PMC3547868.
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87 Fields:
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HumansAnimalsCells
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Sequence signatures extracted from proximal promoters can be used to predict distal enhancers. Genome Biol. 2013; 14(10):R117.
Taher L, Smith RP, Kim MJ, Ahituv N, Ovcharenko I. PMID: 24156763; PMCID: PMC3983659.
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18 Fields:
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HumansAnimalsCells
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The hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers. Methods Mol Biol. 2013; 1015:279-89.
Kim MJ, Ahituv N. PMID: 23824863; PMCID: PMC4096022.
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19 Fields:
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HumansAnimalsCells
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Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. Nature. 2012 Aug 30; 488(7413):642-6.
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. PMID: 22932389; PMCID: PMC3523687.
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PubMed Mentions:
165 Fields:
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AnimalsCells
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Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Hum Mol Genet. 2012 Nov 15; 21(22):4930-8.
Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. PMID: 22914741; PMCID: PMC3529576.
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32 Fields:
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HumansAnimalsCells
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Human developmental enhancers conserved between deuterostomes and protostomes. PLoS Genet. 2012; 8(8):e1002852.
Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G. PMID: 22876195; PMCID: PMC3410860.
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PubMed Mentions:
34 Fields:
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HumansAnimalsCells
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A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly. Am J Med Genet A. 2012 Aug; 158A(8):2031-5.
VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S. PMID: 22786669; PMCID: PMC3402602.
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7 Fields:
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HumansCells
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Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. Am J Med Genet A. 2012 Jul; 158A(7):1620-7.
Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT. PMID: 22678995; PMCID: PMC3381434.
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PubMed Mentions:
23 Fields:
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HumansCells
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Pharmacogene regulatory elements: from discovery to applications. Genome Med. 2012 May 25; 4(5):45.
Smith RP, Lam ET, Markova S, Yee SW, Ahituv N. PMID: 22630332; PMCID: PMC3506911.
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16 Fields:
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A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Hum Mutat. 2012 Jul; 33(7):1063-6.
Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A. PMID: 22495965; PMCID: PMC3370115.
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PubMed Mentions:
20 Fields:
Translation:
Humans
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Coding exons function as tissue-specific enhancers of nearby genes. Genome Res. 2012 Jun; 22(6):1059-68.
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, Lomvardas S, Ahituv N. PMID: 22442009; PMCID: PMC3371700.
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123 Fields:
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HumansAnimalsCells
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Massively parallel functional dissection of mammalian enhancers in vivo. Nat Biotechnol. 2012 Feb 26; 30(3):265-70.
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. PMID: 22371081; PMCID: PMC3402344.
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PubMed Mentions:
298 Fields:
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HumansAnimalsCells
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Cis-Regulatory Enhancer Mutations are a Cause of Human Limb Malformations. Gene Regulatory Sequences and Human Disease. 2012 Jan 1; 73-93.
VanderMeer VJ, Ahituv AN. .
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Gene Regulatory Elements. Gene Regulatory Sequences and Human Disease. 2012 Jan 1; 1-17.
Ahituv AN. .
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Location, location, cis-mutation. Hum Mutat. 2011 Dec; 32(12):iv.
Ahituv N. PMID: 22083934.
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HumansAnimalsCells
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Functional characterization of liver enhancers that regulate drug-associated transporters. Clin Pharmacol Ther. 2011 Apr; 89(4):571-8.
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, Giacomini KM, Kroetz DL, Ahituv N. PMID: 21368754; PMCID: PMC3227682.
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16 Fields:
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HumansAnimalsCells
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cis-regulatory mutations are a genetic cause of human limb malformations. Dev Dyn. 2011 May; 240(5):920-30.
VanderMeer JE, Ahituv N. PMID: 21509892; PMCID: PMC3174732.
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43 Fields:
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HumansCells
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Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy. Pharmacogenomics. 2009 Oct; 10(10):1569-76.
Kroetz DL, Ahituv N, Burchard EG, Guo S, Sali A, Giacomini KM. PMID: 19842929; PMCID: PMC2923222.
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PubMed Mentions:
2 Fields:
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Humans
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Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1. Pharmacogenet Genomics. 2009 Oct; 19(10):770-80.
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, Giacomini KM. PMID: 19745787; PMCID: PMC2976711.
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PubMed Mentions:
22 Fields:
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HumansCells
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Identification and characterization of proximal promoter polymorphisms in the human concentrative nucleoside transporter 2 (SLC28A2). J Pharmacol Exp Ther. 2009 Mar; 328(3):699-707.
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. PMID: 19098160; PMCID: PMC2682268.
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PubMed Mentions:
14 Fields:
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HumansAnimalsCells
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Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. Hum Mol Genet. 2009 Mar 15; 18(6):1140-7.
Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C. PMID: 19091795; PMCID: PMC2649015.
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PubMed Mentions:
55 Fields:
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HumansCells
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Introduction to Computational Genomics: A Case Studies Approach Nello Cristianini and Matthew W. Hahn. Briefings in Bioinformatics. 2008 Dec 6; 10(3):341-341.
Ahituv AN. .
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A new mouse mutant for the LDL receptor identified using ENU mutagenesis. J Lipid Res. 2008 Nov; 49(11):2452-62.
Svenson KL, Ahituv N, Durgin RS, Savage H, Magnani PA, Foreman O, Paigen B, Peters LL. PMID: 18632552; PMCID: PMC2563210.
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PubMed Mentions:
10 Fields:
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AnimalsCells
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Alternative approach to a heavy weight problem. Genome Res. 2008 Feb; 18(2):214-20.
Goren A, Kim E, Amit M, Bochner R, Lev-Maor G, Ahituv N, Ast G. PMID: 18096750; PMCID: PMC2203619.
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PubMed Mentions:
10 Fields:
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HumansCells
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In vivo characterization of human APOA5 haplotypes. Genomics. 2007 Dec; 90(6):674-9.
Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA. PMID: 17936576.
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12 Fields:
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HumansAnimalsCells
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Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle. PLoS One. 2007 Sep 19; 2(9):e903.
Costford SR, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, Harper ME. PMID: 17878938; PMCID: PMC1964808.
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PubMed Mentions:
31 Fields:
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HumansCells
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Deletion of ultraconserved elements yields viable mice. PLoS Biol. 2007 Sep; 5(9):e234.
Ahituv N, Zhu Y, Visel A, Holt A, Afzal V, Pennacchio LA, Rubin EM. PMID: 17803355; PMCID: PMC1964772.
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PubMed Mentions:
147 Fields:
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AnimalsCells
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Medical sequencing at the extremes of human body mass. Am J Hum Genet. 2007 Apr; 80(4):779-91.
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. PMID: 17357083; PMCID: PMC1852707.
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PubMed Mentions:
133 Fields:
Translation:
Humans
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In vivo enhancer analysis of human conserved non-coding sequences. Nature. 2006 Nov 23; 444(7118):499-502.
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. PMID: 17086198.
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629 Fields:
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HumansAnimalsCells
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A distal enhancer and an ultraconserved exon are derived from a novel retroposon. Nature. 2006 May 04; 441(7089):87-90.
Bejerano G, Lowe CB, Ahituv N, King B, Siepel A, Salama SR, Rubin EM, Kent WJ, Haussler D. PMID: 16625209.
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PubMed Mentions:
250 Fields:
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HumansAnimalsCells
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A PYY Q62P variant linked to human obesity. Hum Mol Genet. 2006 Feb 01; 15(3):387-91.
Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Collier JM, Hébert S, Doelle H, Dent R, Pennacchio LA, McPherson R. PMID: 16368708.
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PubMed Mentions:
14 Fields:
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HumansAnimalsCells
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Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny. Hum Mol Genet. 2005 Oct 15; 14(20):3057-63.
Ahituv N, Prabhakar S, Poulin F, Rubin EM, Couronne O. PMID: 16155111.
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PubMed Mentions:
37 Fields:
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HumansAnimalsCells
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Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene. Mamm Genome. 2005 Feb; 16(2):91-5.
Baroukh N, Ahituv N, Chang J, Shoukry M, Afzal V, Rubin EM, Pennacchio LA. PMID: 15859353.
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PubMed Mentions:
9 Fields:
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HumansAnimalsCells
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Exploiting human--fish genome comparisons for deciphering gene regulation. Hum Mol Genet. 2004 Oct 01; 13 Spec No 2:R261-6.
Ahituv N, Rubin EM, Nobrega MA. PMID: 15358733.
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24 Fields:
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HumansAnimals
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An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice. Mamm Genome. 2004 Jun; 15(6):424-32.
Ahituv N, Erven A, Fuchs H, Guy K, Ashery-Padan R, Williams T, de Angelis MH, Avraham KB, Steel KP. PMID: 15181535.
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PubMed Mentions:
12 Fields:
Translation:
AnimalsCells
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Myosin VI. Genetic Hearing Loss. 2003 Oct 17.
Ahituv AN, Ben-David BO, Gasparini GP, Avraham AK. .
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Mouse models for human deafness: current tools for new fashions. Trends Mol Med. 2002 Sep; 8(9):447-51.
Ahituv N, Avraham KB. PMID: 12223317.
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PubMed Mentions:
10 Fields:
Translation:
HumansAnimals
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MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet. 2001 Sep; 69(3):635-40.
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. PMID: 11468689; PMCID: PMC1235492.
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PubMed Mentions:
89 Fields:
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HumansAnimalsCells
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The Notch ligand Jagged1 is required for inner ear sensory development. Proc Natl Acad Sci U S A. 2001 Mar 27; 98(7):3873-8.
Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrabé de Angelis M. PMID: 11259677; PMCID: PMC31145.
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PubMed Mentions:
84 Fields:
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HumansAnimalsCells
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Genomic structure of the human unconventional myosin VI gene. Gene. 2000 Dec 31; 261(2):269-75.
Ahituv N, Sobe T, Robertson NG, Morton CC, Taggart RT, Avraham KB. PMID: 11167014.
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PubMed Mentions:
5 Fields:
Translation:
HumansCells
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Auditory and vestibular mouse mutants: models for human deafness. J Basic Clin Physiol Pharmacol. 2000; 11(3):181-91.
Ahituv N, Avraham KB. PMID: 11041382.
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PubMed Mentions:
6 Fields:
Translation:
HumansAnimals
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Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science. 1998 Mar 20; 279(5358):1950-4.
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. PMID: 9506947.
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PubMed Mentions:
96 Fields:
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HumansAnimalsCells
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Devising a cooperation policy for emergency networks. J Oper Res Soc. 1987 Nov; 38(11):1015-29.
Ahituv N, Berman O. PMID: 10302092.
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