Publications by authors named "Nadav Ahituv"

95Publications

A systematic evaluation of the design and context dependencies of massively parallel reporter assays.

Nat Methods 2020 Oct 12. Epub 2020 Oct 12.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41592-020-0965-yDOI Listing
October 2020

Modulating gene regulation to treat genetic disorders.

Nat Rev Drug Discov 2020 Oct 5. Epub 2020 Oct 5.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.1038/s41573-020-0083-7DOI Listing
October 2020

Co-option of the lineage-specific retrotransposon in the gibbon genome.

Proc Natl Acad Sci U S A 2020 08 20;117(32):19328-19338. Epub 2020 Jul 20.

Department of Medicine, Knight Cardiovascular Institute, Oregon Health and Science University, Portland, OR 97239;

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http://dx.doi.org/10.1073/pnas.2006038117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431028PMC
August 2020

Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream of .

Pharmacogenomics 2020 06 19;21(8):509-520. Epub 2020 May 19.

Programa de Pós-Graduação em Genética, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, 31270-901, Brazil.

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http://dx.doi.org/10.2217/pgs-2020-0010DOI Listing
June 2020

The cartilage matrisome in adolescent idiopathic scoliosis.

Bone Res 2020 9;8:13. Epub 2020 Mar 9.

5Department of Developmental Biology, Washington University School of Medicine, St. Louis, MO 63110 USA.

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http://dx.doi.org/10.1038/s41413-020-0089-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062733PMC
March 2020

Characterization of functional transposable element enhancers in acute myeloid leukemia.

Sci China Life Sci 2020 May 6;63(5):675-687. Epub 2020 Mar 6.

CAS Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences Center for Excellence in Molecular Cell Science, Collaborative Innovation Center for Genetics and Developmental Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.

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http://dx.doi.org/10.1007/s11427-019-1574-xDOI Listing
May 2020

Dysregulation of STAT3 signaling is associated with endplate-oriented herniations of the intervertebral disc in Adgrg6 mutant mice.

PLoS Genet 2019 10 25;15(10):e1008096. Epub 2019 Oct 25.

Department of Nutritional Sciences, University of Texas at Austin, Austin, Texas, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1008096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834287PMC
October 2019

Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction.

Cell Stem Cell 2019 Nov 17;25(5):713-727.e10. Epub 2019 Oct 17.

Department of Electrical Engineering and Computer Sciences and Center for Computational Biology, University of California, Berkeley, Berkeley, CA, USA; Chan-Zuckerberg Biohub, San Francisco, CA 94158, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2019.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850896PMC
November 2019

Genomic and epigenomic mapping of leptin-responsive neuronal populations involved in body weight regulation.

Nat Metab 2019 Apr 8;1(4):475-484. Epub 2019 Apr 8.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, 94158, USA.

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http://dx.doi.org/10.1038/s42255-019-0051-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6750255PMC
April 2019

MPRAnalyze: statistical framework for massively parallel reporter assays.

Genome Biol 2019 09 2;20(1):183. Epub 2019 Sep 2.

Department of Electrical Engineering and Computer Sciences, University of California Berkeley, Berkeley, California, USA.

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http://dx.doi.org/10.1186/s13059-019-1787-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717970PMC
September 2019

Comparative Genomic Characterization of the Multimammate Mouse Mastomys coucha.

Mol Biol Evol 2019 12;36(12):2805-2812

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1093/molbev/msz188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878952PMC
December 2019

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.

Nat Commun 2019 08 8;10(1):3583. Epub 2019 Aug 8.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, 94158, USA.

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http://dx.doi.org/10.1038/s41467-019-11526-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687891PMC
August 2019

Meta-analysis of massively parallel reporter assays enables prediction of regulatory function across cell types.

Hum Mutat 2019 09 18;40(9):1299-1313. Epub 2019 Jun 18.

Department of Electrical Engineering and Computer Sciences, Center for Computational Biology, University of California, Berkeley, California.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23820
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http://dx.doi.org/10.1002/humu.23820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771677PMC
September 2019

A Genome-wide Framework for Mapping Gene Regulation via Cellular Genetic Screens.

Cell 2019 01 3;176(1-2):377-390.e19. Epub 2019 Jan 3.

Department of Genome Sciences, University of Washington, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98105, USA; Howard Hughes Medical Institute, Seattle, WA 98105, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674183155
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http://dx.doi.org/10.1016/j.cell.2018.11.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690346PMC
January 2019

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.

Science 2019 01 13;363(6424). Epub 2018 Dec 13.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1126/science.aau0629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570489PMC
January 2019

A multidisciplinary review of triphalangeal thumb.

J Hand Surg Eur Vol 2019 Jan 14;44(1):59-68. Epub 2018 Oct 14.

1 Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1177/1753193418803521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297887PMC
January 2019

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 22;39(6):811-815. Epub 2018 Mar 22.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1002/humu.23417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992059PMC
June 2018

Rare Variants in the Promoter Modulate In Vivo Activity.

Drug Metab Dispos 2018 05 21;46(5):636-642. Epub 2018 Feb 21.

Department of Bioengineering and Therapeutic Sciences (R.J.E., M.J.K., R.S., N.A., D.L.K.) and Institute for Human Genetics (N.A., M.J.K., R.S., D.L.K.), University of California San Francisco, San Francisco, California

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http://dmd.aspetjournals.org/lookup/doi/10.1124/dmd.117.0795
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http://dx.doi.org/10.1124/dmd.117.079541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896364PMC
May 2018

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

Nucleic Acids Res 2017 Oct;45(18):10800-10810

Lung Biology Center, Department of Medicine, University of California San Francisco, 4th St, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1093/nar/gkx675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737544PMC
October 2017

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

Pharmacogenet Genomics 2017 Dec;27(12):454-463

aDepartment of Bioengineering and Therapeutic Sciences bInstitute for Human Genetics, University of California San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1097/FPC.0000000000000312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678922PMC
December 2017

Variant Interpretation: Functional Assays to the Rescue.

Am J Hum Genet 2017 Sep;101(3):315-325

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.07.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590843PMC
September 2017

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

Sci Rep 2017 08 8;7(1):7533. Epub 2017 Aug 8.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.1038/s41598-017-07757-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548911PMC
August 2017

Gene Regulatory Elements, Major Drivers of Human Disease.

Annu Rev Genomics Hum Genet 2017 08 7;18:45-63. Epub 2017 Apr 7.

Department of Bioengineering and Therapeutic Sciences and Institute for Human Genetics, University of California, San Francisco, California 94158; email:

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http://dx.doi.org/10.1146/annurev-genom-091416-035537DOI Listing
August 2017

Limb development: a paradigm of gene regulation.

Nat Rev Genet 2017 04 6;18(4):245-258. Epub 2017 Feb 6.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, California 94158, USA.

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http://dx.doi.org/10.1038/nrg.2016.167DOI Listing
April 2017

Genomic Characterization of Metformin Hepatic Response.

PLoS Genet 2016 Nov 30;12(11):e1006449. Epub 2016 Nov 30.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006449DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130177PMC
November 2016

In Vivo Hepatic Enhancer Elements in the Human ABCG2 Locus.

Drug Metab Dispos 2017 02 17;45(2):208-215. Epub 2016 Nov 17.

Department of Bioengineering and Therapeutic Sciences (R.J.E., M.J.K., R.P.S., X.L., N.A., D.L.K.); and Institute for Human Genetics (M.J.K., R.P.S., N.A., D.L.K.), University of California, San Francisco, San Francisco, California

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http://dx.doi.org/10.1124/dmd.116.072033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5267518PMC
February 2017

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

PLoS Genet 2016 Mar 28;12(3):e1005738. Epub 2016 Mar 28.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809552PMC
March 2016

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

Authors:
Nadav Ahituv

Genome Med 2016 Feb 8;8(1):14. Epub 2016 Feb 8.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, 94158, USA.

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http://genomemedicine.com/content/8/1/14
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http://dx.doi.org/10.1186/s13073-016-0277-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745165PMC
February 2016

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

Nat Commun 2015 Dec 21;6:10130. Epub 2015 Dec 21.

Kaiser Permanente Northern California, Division of Research, Oakland, California 94612, USA.

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http://dx.doi.org/10.1038/ncomms10130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703831PMC
December 2015

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

PLoS Genet 2015 Dec 3;11(12):e1005640. Epub 2015 Dec 3.

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4669122PMC
December 2015

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

Elife 2015 Nov 17;4. Epub 2015 Nov 17.

Departments of Surgery and Orofacial Sciences, Division of Plastic Surgery, Program in Craniofacial Biology, Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, United States.

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http://dx.doi.org/10.7554/eLife.07702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657621PMC
November 2015

Uncovering drug-responsive regulatory elements.

Pharmacogenomics 2015 Nov 10;16(16):1829-41. Epub 2015 Nov 10.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.2217/pgs.15.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716675PMC
November 2015

Functionally conserved enhancers with divergent sequences in distant vertebrates.

BMC Genomics 2015 Oct 30;16:882. Epub 2015 Oct 30.

Children's Hospital Oakland Research Institute, Oakland, CA, 94609, USA.

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http://dx.doi.org/10.1186/s12864-015-2070-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628251PMC
October 2015

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

Evol Dev 2016 Jan-Feb;18(1):31-40. Epub 2015 Jun 18.

Department of Orofacial Sciences and Program in Craniofacial Biology, University of California San Francisco, San Francisco, CA 94143, USA.

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http://dx.doi.org/10.1111/ede.12132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826035PMC
October 2016

Decoding enhancers using massively parallel reporter assays.

Genomics 2015 Sep 10;106(3):159-164. Epub 2015 Jun 10.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA 94158, USA; Institute for Human Genetics, University of California San Francisco, San Francisco, CA 94158, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2015.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540663PMC
September 2015

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

Nat Commun 2015 Mar 18;6:6452. Epub 2015 Mar 18.

1] Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Research Department, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA [2] Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA [3] McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA [4] McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1038/ncomms7452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365504PMC
March 2015

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

Cell 2014 Oct;159(3):543-57

Neuroscience Graduate Program, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Anatomy, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.09.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243057PMC
October 2014

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

PLoS Genet 2014 Oct 23;10(10):e1004592. Epub 2014 Oct 23.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, United States of America; Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207465PMC
October 2014

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 14;2(5):402-11. Epub 2014 May 14.

Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet Stockholm, Sweden ; Department of Clinical Genetics, Karolinska University Hospital Stockholm, Sweden.

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http://dx.doi.org/10.1002/mgg3.81DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190875PMC
September 2014

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

PLoS Genet 2014 Oct 2;10(10):e1004648. Epub 2014 Oct 2.

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, California, United States of America; Institute for Human Genetics, University of California, San Francisco, San Francisco, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183418PMC
October 2014

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

Development 2014 Nov 1;141(21):4194-8. Epub 2014 Oct 1.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA 94158, USA Institute for Human Genetics, University of California San Francisco, San Francisco, CA 94158, USA

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http://dx.doi.org/10.1242/dev.110965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302890PMC
November 2014

Integrating diverse datasets improves developmental enhancer prediction.

PLoS Comput Biol 2014 Jun 26;10(6):e1003677. Epub 2014 Jun 26.

Center for Human Genetics Research and Department of Biomedical Informatics, Vanderbilt University, Nashville, Tennessee, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1003677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4072507PMC
June 2014

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 3;35(8):945-8. Epub 2014 Jun 3.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California; Institute for Human Genetics, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1002/humu.22581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110103PMC
August 2014

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

Nature 2013 Dec 10;504(7479):306-310. Epub 2013 Nov 10.

Sequencing Technology Group, Joint Genome Institute, Lawrence Berkeley National Laboratory, Walnut Creek, California 94598, USA.

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http://dx.doi.org/10.1038/nature12716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3954713PMC
December 2013

Functional characterization of SIM1-associated enhancers.

Hum Mol Genet 2014 Apr 7;23(7):1700-8. Epub 2013 Nov 7.

Department of Bioengineering and Therapeutic Sciences.

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http://dx.doi.org/10.1093/hmg/ddt559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943516PMC
April 2014

Classification of topological domains based on gene expression and regulation.

Genome 2013 Jul 4;56(7):415-23. Epub 2013 Sep 4.

a Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1139/gen-2013-0111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873163PMC
July 2013

Functional analysis of limb enhancers in the developing fin.

Dev Genes Evol 2013 Nov 26;223(6):395-9. Epub 2013 Sep 26.

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA.

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http://link.springer.com/content/pdf/10.1007/s00427-013-0453
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http://link.springer.com/10.1007/s00427-013-0453-9
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http://dx.doi.org/10.1007/s00427-013-0453-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869458PMC
November 2013

The role of AUTS2 in neurodevelopment and human evolution.

Trends Genet 2013 Oct 2;29(10):600-8. Epub 2013 Sep 2.

Department of Bioengineering and Therapeutic Sciences, and Institute for Human Genetics, University of California, San Francisco (UCSF), 1550 4th Street, San Francisco, CA 94158, USA.

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http://dx.doi.org/10.1016/j.tig.2013.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823538PMC
October 2013

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

Nat Genet 2013 Sep 28;45(9):1021-1028. Epub 2013 Jul 28.

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1038/ng.2713DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3775494PMC
September 2013

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

Methods Mol Biol 2013 ;1015:279-89

Department of Bioengineering and Therapeutic Sciences, Institute for Human Genetics, University of California, San Francisco, CA, USA.

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http://dx.doi.org/10.1007/978-1-62703-435-7_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096022PMC
February 2014

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

PLoS Genet 2013 17;9(1):e1003221. Epub 2013 Jan 17.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1371/journal.pgen.1003221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3547868PMC
May 2013

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

Hum Mol Genet 2012 Nov 21;21(22):4930-8. Epub 2012 Aug 21.

Department of Bioengineering and Therapeutic Sciences and 2Institute for Human Genetics, University of California-San Francisco, CA, USA.

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http://dx.doi.org/10.1093/hmg/dds336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529576PMC
November 2012

Human developmental enhancers conserved between deuterostomes and protostomes.

PLoS Genet 2012 2;8(8):e1002852. Epub 2012 Aug 2.

Department of Genetics, Stanford University, Stanford, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1002852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3410860PMC
December 2012

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 11;158A(8):2031-5. Epub 2012 Jul 11.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California 94143, USA.

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http://dx.doi.org/10.1002/ajmg.a.35473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402602PMC
August 2012

Pharmacogene regulatory elements: from discovery to applications.

Genome Med 2012 May 25;4(5):45. Epub 2012 May 25.

Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.

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http://www.genomemedicine.com/content/pdf/gm344.pdf
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http://genomemedicine.com/content/4/5/45
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http://dx.doi.org/10.1186/gm344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506911PMC
May 2012

Location, location, cis-mutation.

Authors:
Nadav Ahituv

Hum Mutat 2011 Dec;32(12):iv

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http://dx.doi.org/10.1002/humu.21638DOI Listing
December 2011

cis-regulatory mutations are a genetic cause of human limb malformations.

Dev Dyn 2011 May 11;240(5):920-30. Epub 2011 Jan 11.

Department of Bioengineering and Therapeutic Sciences, and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1002/dvdy.22535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174732PMC
May 2011

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

Department of Bioengineering and Therapeutic Sciences, Schools of Pharmacy and Medicine, University of California San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.2217/pgs.09.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923222PMC
October 2009

Alternative approach to a heavy weight problem.

Genome Res 2008 Feb 20;18(2):214-20. Epub 2007 Dec 20.

Department of Human Genetics and Molecular Medicine, Sackler Faculty of Medicine, Tel-Aviv University, Ramat Aviv 69978, Israel.

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http://dx.doi.org/10.1101/gr.6661308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2203619PMC
February 2008

In vivo characterization of human APOA5 haplotypes.

Genomics 2007 Dec 23;90(6):674-9. Epub 2007 Oct 23.

Genomics Division, MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.

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http://dx.doi.org/10.1016/j.ygeno.2007.08.003DOI Listing
December 2007

Deletion of ultraconserved elements yields viable mice.

PLoS Biol 2007 Sep;5(9):e234

Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, United States of America.

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http://dx.doi.org/10.1371/journal.pbio.0050234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1964772PMC
September 2007

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

Nature 2006 May 16;441(7089):87-90. Epub 2006 Apr 16.

Center for Biomolecular Science and Engineering, University of California Santa Cruz, Santa Cruz, California 95064, USA.

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http://dx.doi.org/10.1038/nature04696DOI Listing
May 2006

A PYY Q62P variant linked to human obesity.

Hum Mol Genet 2006 Feb 20;15(3):387-91. Epub 2005 Dec 20.

Genomics Division, One Cyclotron Road, MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.

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http://dx.doi.org/10.1093/hmg/ddi455DOI Listing
February 2006

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

Hum Mol Genet 2005 Oct 9;14(20):3057-63. Epub 2005 Sep 9.

Genomics Division, Lawrence Berkeley National Laboratory, CA 94720, USA.

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http://dx.doi.org/10.1093/hmg/ddi338DOI Listing
October 2005

Comparative genomic analysis reveals a distant liver enhancer upstream of the COUP-TFII gene.

Mamm Genome 2005 Feb;16(2):91-5

Genomics Division, Lawrence Berkeley National Laboratory, MS 84-171, One Cyclotron Road, Berkeley, California 94720, USA.

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http://dx.doi.org/10.1007/s00335-004-2442-9DOI Listing
February 2005

Exploiting human--fish genome comparisons for deciphering gene regulation.

Hum Mol Genet 2004 Oct;13 Spec No 2:R261-6

DOE Joint Genome Institute, Walnut Creek, CA 94598, USA.

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http://dx.doi.org/10.1093/hmg/ddh229DOI Listing
October 2004

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

Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel.

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http://dx.doi.org/10.1007/s00335-004-2334-zDOI Listing
June 2004

Mouse models for human deafness: current tools for new fashions.

Trends Mol Med 2002 Sep;8(9):447-51

Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.

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http://dx.doi.org/10.1016/s1471-4914(02)02388-2DOI Listing
September 2002