Robert B Weiss

Robert B Weiss

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Robert B Weiss

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Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G.

Neurol Genet 2019 Apr 1;5(2):e315. Epub 2019 Mar 1.

University of Iowa (A.J.L.), Carver College of Medicine; Department of Pathology (K.A.J., M.O.C., S.A.M.), University of Iowa; Departments of Pediatrics and Neurology (R.J.B.), University of Utah; Department of Neurology (C.G.K.), University of California San Diego; Department of Neurology (C.G.), Gillette Children's Specialty Healthcare; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's; Department of Neurology (B.B.), Integris Southwest Medical Center; Departments of Pediatrics and Neurology (C.W.), Driscoll Children's Hospital; Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, University of Toronto; Departments of Pediatrics and Neurology (M.A.G., J.S.J.), University of Colorado; Department of Physical Medicine and Rehabilitation (A.B.), University of Colorado; Department of Neurosciences (R.T.L.), University of California San Diego; National Institutes of Health (S.D., C.G.B.), Institute of Neurological Disorders and Stroke; Department of Pathology (D.M.M.), University of California San Diego; Department of Human Genetics (R.B.W.), University of Utah; and Departments of Pediatrics and Neurology (K.D.M.), University of Iowa.

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http://dx.doi.org/10.1212/NXG.0000000000000315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454397PMC
April 2019

A genome-wide association study for mastitis resistance in phenotypically well-characterized Holstein dairy cattle using a selective genotyping approach.

Immunogenetics 2019 01 30;71(1):35-47. Epub 2018 Sep 30.

Department of Animal, Dairy and Veterinary Sciences, Utah State University, Logan, UT, USA.

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http://dx.doi.org/10.1007/s00251-018-1088-9DOI Listing
January 2019

Lung eosinophilia induced by house dust mites or ovalbumin is modulated by nicotinic receptor α7 and inhibited by cigarette smoke.

Am J Physiol Lung Cell Mol Physiol 2018 10 5;315(4):L553-L562. Epub 2018 Jul 5.

Geriatric Research, Education, and Clinical Center, Salt Lake City Department of Veterans Affairs Medical Center , Salt Lake City, Utah.

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http://dx.doi.org/10.1152/ajplung.00230.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230881PMC
October 2018

Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

Ann Neurol 2018 08 25;84(2):234-245. Epub 2018 Aug 25.

Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH.

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http://dx.doi.org/10.1002/ana.25283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168392PMC
August 2018

Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.

Am J Med Genet A 2018 05;176(5):1207-1211

The Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.38676DOI Listing
May 2018

Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening.

Genet Med 2018 03 26;20(3):374-375. Epub 2017 Oct 26.

Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1038/gim.2017.174DOI Listing
March 2018

Low-level dystrophin expression attenuating the dystrophinopathy phenotype.

Neuromuscul Disord 2018 02 23;28(2):116-121. Epub 2017 Nov 23.

The Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH 43205, USA; Department of Neurology, The Ohio State University, Columbus, OH 43205, USA; Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.11.007DOI Listing
February 2018

Complex signatures of natural selection at GYPA.

Hum Genet 2018 Feb 23;137(2):151-160. Epub 2018 Jan 23.

Departments of Pediatrics and Genome Sciences, The University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1007/s00439-018-1866-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223178PMC
February 2018

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.

PLoS One 2017 15;12(12):e0189664. Epub 2017 Dec 15.

University of Utah, Department of Human Genetics, Salt Lake City, Utah, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0189664PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731705PMC
January 2018

Lung epithelial response to cigarette smoke and modulation by the nicotinic alpha 7 receptor.

PLoS One 2017 8;12(11):e0187773. Epub 2017 Nov 8.

Geriatric Research, Education, and Clinical Center, Salt Lake City Veterans Administration Medical Center, Salt Lake City, Utah, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0187773PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678682PMC
November 2017

Nicotinic alpha 7 receptor expression and modulation of the lung epithelial response to lipopolysaccharide.

PLoS One 2017 6;12(4):e0175367. Epub 2017 Apr 6.

Geriatric Research, Education, and Clinical Center, Salt Lake City Veterans Administration Medical Center, Salt Lake City, Utah, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0175367PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383308PMC
September 2017

Patterns of host gene expression associated with harboring a foregut microbial community.

BMC Genomics 2017 Sep 6;18(1):697. Epub 2017 Sep 6.

Department of Biology, University of Utah, 257 South 1400 East, Salt Lake City, UT, 84112, USA.

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http://dx.doi.org/10.1186/s12864-017-4101-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585965PMC
September 2017

Adaptation by Deletogenic Replication Slippage in a Nascent Symbiont.

Mol Biol Evol 2016 08 12;33(8):1957-66. Epub 2016 Apr 12.

Department of Biology, University of Utah.

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http://dx.doi.org/10.1093/molbev/msw071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4948707PMC
August 2016

CYP2A6 Effects on Subjective Reactions to Initial Smoking Attempt.

Nicotine Tob Res 2016 May 5;18(5):637-41. Epub 2015 Nov 5.

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT.

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http://dx.doi.org/10.1093/ntr/ntv244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896830PMC
May 2016

Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts.

Authors:
Tae-Hwi Schwantes-An Juan Zhang Li-Shiun Chen Sarah M Hartz Robert C Culverhouse Xiangning Chen Hilary Coon Josef Frank Helen M Kamens Bettina Konte Leena Kovanen Antti Latvala Lisa N Legrand Brion S Maher Whitney E Melroy Elliot C Nelson Mark W Reid Jason D Robinson Pei-Hong Shen Bao-Zhu Yang Judy A Andrews Paul Aveyard Olga Beltcheva Sandra A Brown Dale S Cannon Sven Cichon Robin P Corley Norbert Dahmen Louisa Degenhardt Tatiana Foroud Wolfgang Gaebel Ina Giegling Stephen J Glatt Richard A Grucza Jill Hardin Annette M Hartmann Andrew C Heath Stefan Herms Colin A Hodgkinson Per Hoffmann Hyman Hops David Huizinga Marcus Ising Eric O Johnson Elaine Johnstone Radka P Kaneva Kenneth S Kendler Falk Kiefer Henry R Kranzler Ken S Krauter Orna Levran Susanne Lucae Michael T Lynskey Wolfgang Maier Karl Mann Nicholas G Martin Manuel Mattheisen Grant W Montgomery Bertram Müller-Myhsok Michael F Murphy Michael C Neale Momchil A Nikolov Denise Nishita Markus M Nöthen John Nurnberger Timo Partonen Michele L Pergadia Maureen Reynolds Monika Ridinger Richard J Rose Noora Rouvinen-Lagerström Norbert Scherbaum Christine Schmäl Michael Soyka Michael C Stallings Michael Steffens Jens Treutlein Ming Tsuang Tamara L Wall Norbert Wodarz Vadim Yuferov Peter Zill Andrew W Bergen Jingchun Chen Paul M Cinciripini Howard J Edenberg Marissa A Ehringer Robert E Ferrell Joel Gelernter David Goldman John K Hewitt Christian J Hopfer William G Iacono Jaakko Kaprio Mary Jeanne Kreek Ivo M Kremensky Pamela A F Madden Matt McGue Marcus R Munafò Robert A Philibert Marcella Rietschel Alec Roy Dan Rujescu Sirkku T Saarikoski Gary E Swan Alexandre A Todorov Michael M Vanyukov Robert B Weiss Laura J Bierut Nancy L Saccone

Behav Genet 2016 Mar 21;46(2):151-69. Epub 2015 Sep 21.

Department of Genetics, Washington University School of Medicine, 4523 Clayton Avenue, Campus Box 8232, St. Louis, MO, 63110, USA.

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https://genepi.qimr.edu.au/contents/p/staff/Schwantes_An_Beh
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http://link.springer.com/10.1007/s10519-015-9737-3
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http://dx.doi.org/10.1007/s10519-015-9737-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752855PMC
March 2016

CYP2A6 Longitudinal Effects in Young Smokers.

Nicotine Tob Res 2016 Feb 5;18(2):196-203. Epub 2015 Mar 5.

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT.

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http://dx.doi.org/10.1093/ntr/ntv049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723673PMC
February 2016

Peroxinectin catalyzed dityrosine crosslinking in the adhesive underwater silk of a casemaker caddisfly larvae, Hysperophylax occidentalis.

Insect Biochem Mol Biol 2014 Nov 16;54:69-79. Epub 2014 Sep 16.

Department of Bioengineering, University of Utah, Salt Lake City, UT 84112, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ibmb.2014.08.009DOI Listing
November 2014

Gut microbes of mammalian herbivores facilitate intake of plant toxins.

Ecol Lett 2014 Oct 20;17(10):1238-46. Epub 2014 Jul 20.

Department of Biology, University of Utah, 257 S. 1400 East, Salt Lake City, UT, 84112, USA.

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http://dx.doi.org/10.1111/ele.12329DOI Listing
October 2014

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Nat Med 2014 09 10;20(9):992-1000. Epub 2014 Aug 10.

1] The Center for Gene Therapy, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio, USA. [2] Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA. [3] Department of Neurology, The Ohio State University, Columbus, Ohio, USA.

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http://dx.doi.org/10.1038/nm.3628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165597PMC
September 2014

Association of the CHRNA4 neuronal nicotinic receptor subunit gene with frequency of binge drinking in young adults.

Alcohol Clin Exp Res 2014 Apr 15;38(4):930-7. Epub 2014 Jan 15.

Department of Psychiatry , University of Utah School of Medicine, Salt Lake City, Utah.

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http://doi.wiley.com/10.1111/acer.12319
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http://dx.doi.org/10.1111/acer.12319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984345PMC
April 2014

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking.

Authors:
Sarah H Stephens Sarah M Hartz Nicole R Hoft Nancy L Saccone Robin C Corley John K Hewitt Christian J Hopfer Naomi Breslau Hilary Coon Xiangning Chen Francesca Ducci Nicole Dueker Nora Franceschini Josef Frank Younghun Han Nadia N Hansel Chenhui Jiang Tellervo Korhonen Penelope A Lind Jason Liu Leo-Pekka Lyytikäinen Martha Michel John R Shaffer Susan E Short Juzhong Sun Alexander Teumer John R Thompson Nicole Vogelzangs Jacqueline M Vink Angela Wenzlaff William Wheeler Bao-Zhu Yang Steven H Aggen Anthony J Balmforth Sebastian E Baumeister Terri H Beaty Daniel J Benjamin Andrew W Bergen Ulla Broms David Cesarini Nilanjan Chatterjee Jingchun Chen Yu-Ching Cheng Sven Cichon David Couper Francesco Cucca Danielle Dick Tatiana Foroud Helena Furberg Ina Giegling Nathan A Gillespie Fangyi Gu Alistair S Hall Jenni Hällfors Shizhong Han Annette M Hartmann Kauko Heikkilä Ian B Hickie Jouke Jan Hottenga Pekka Jousilahti Marika Kaakinen Mika Kähönen Philipp D Koellinger Stephen Kittner Bettina Konte Maria-Teresa Landi Tiina Laatikainen Mark Leppert Steven M Levy Rasika A Mathias Daniel W McNeil Sarah E Medland Grant W Montgomery Tanda Murray Matthias Nauck Kari E North Peter D Paré Michele Pergadia Ingo Ruczinski Veikko Salomaa Jorma Viikari Gonneke Willemsen Kathleen C Barnes Eric Boerwinkle Dorret I Boomsma Neil Caporaso Howard J Edenberg Clyde Francks Joel Gelernter Hans Jörgen Grabe Hyman Hops Marjo-Riitta Jarvelin Magnus Johannesson Kenneth S Kendler Terho Lehtimäki Patrik K E Magnusson Mary L Marazita Jonathan Marchini Braxton D Mitchell Markus M Nöthen Brenda W Penninx Olli Raitakari Marcella Rietschel Dan Rujescu Nilesh J Samani Ann G Schwartz Sanjay Shete Margaret Spitz Gary E Swan Henry Völzke Juha Veijola Qingyi Wei Chris Amos Dale S Cannon Richard Grucza Dorothy Hatsukami Andrew Heath Eric O Johnson Jaakko Kaprio Pamela Madden Nicholas G Martin Victoria L Stevens Robert B Weiss Peter Kraft Laura J Bierut Marissa A Ehringer

Genet Epidemiol 2013 Dec 1;37(8):846-59. Epub 2013 Nov 1.

Department of Epidemiology and Public Health, University of Maryland, Baltimore, Maryland, United States of America.

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http://dx.doi.org/10.1002/gepi.21760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947535PMC
December 2013

Self-tensioning aquatic caddisfly silk: Ca2+-dependent structure, strength, and load cycle hysteresis.

Biomacromolecules 2013 Oct 3;14(10):3668-81. Epub 2013 Oct 3.

Departments of †Bioengineering, ‡Medicinal Chemistry, and §Human Genetics, University of Utah , Salt Lake City, Utah 84112, United States.

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http://dx.doi.org/10.1021/bm401036zDOI Listing
October 2013

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

Ann Neurol 2013 Apr 20;73(4):481-8. Epub 2013 Feb 20.

Center for Gene Therapy, Nationwide Children' Hospital, Columbus, OH; Department of Pediatrics, Ohio State University, Columbus, OH; Department of Neurology, Ohio State University, Columbus, OH.

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http://dx.doi.org/10.1002/ana.23819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106425PMC
April 2013

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.

Authors:
Sarah M Hartz Susan E Short Nancy L Saccone Robert Culverhouse LiShiun Chen Tae-Hwi Schwantes-An Hilary Coon Younghun Han Sarah H Stephens Juzhong Sun Xiangning Chen Francesca Ducci Nicole Dueker Nora Franceschini Josef Frank Frank Geller Daniel Gubjartsson Nadia N Hansel Chenhui Jiang Kaisu Keskitalo-Vuokko Zhen Liu Leo-Pekka Lyytikäinen Martha Michel Rajesh Rawal Albert Rosenberger Paul Scheet John R Shaffer Alexander Teumer John R Thompson Jacqueline M Vink Nicole Vogelzangs Angela S Wenzlaff William Wheeler Xiangjun Xiao Bao-Zhu Yang Steven H Aggen Anthony J Balmforth Sebastian E Baumeister Terri Beaty Siiri Bennett Andrew W Bergen Heather A Boyd Ulla Broms Harry Campbell Nilanjan Chatterjee Jingchun Chen Yu-Ching Cheng Sven Cichon David Couper Francesco Cucca Danielle M Dick Tatiana Foroud Helena Furberg Ina Giegling Fangyi Gu Alistair S Hall Jenni Hällfors Shizhong Han Annette M Hartmann Caroline Hayward Kauko Heikkilä John K Hewitt Jouke Jan Hottenga Majken K Jensen Pekka Jousilahti Marika Kaakinen Steven J Kittner Bettina Konte Tellervo Korhonen Maria-Teresa Landi Tiina Laatikainen Mark Leppert Steven M Levy Rasika A Mathias Daniel W McNeil Sarah E Medland Grant W Montgomery Thomas Muley Tanda Murray Matthias Nauck Kari North Michele Pergadia Ozren Polasek Erin M Ramos Samuli Ripatti Angela Risch Ingo Ruczinski Igor Rudan Veikko Salomaa David Schlessinger Unnur Styrkársdóttir Antonio Terracciano Manuela Uda Gonneke Willemsen Xifeng Wu Goncalo Abecasis Kathleen Barnes Heike Bickeböller Eric Boerwinkle Dorret I Boomsma Neil Caporaso Jubao Duan Howard J Edenberg Clyde Francks Pablo V Gejman Joel Gelernter Hans Jörgen Grabe Hyman Hops Marjo-Riitta Jarvelin Jorma Viikari Mika Kähönen Kenneth S Kendler Terho Lehtimäki Douglas F Levinson Mary L Marazita Jonathan Marchini Mads Melbye Braxton D Mitchell Jeffrey C Murray Markus M Nöthen Brenda W Penninx Olli Raitakari Marcella Rietschel Dan Rujescu Nilesh J Samani Alan R Sanders Ann G Schwartz Sanjay Shete Jianxin Shi Margaret Spitz Kari Stefansson Gary E Swan Thorgeir Thorgeirsson Henry Völzke Qingyi Wei H-Erich Wichmann Christopher I Amos Naomi Breslau Dale S Cannon Marissa Ehringer Richard Grucza Dorothy Hatsukami Andrew Heath Eric O Johnson Jaakko Kaprio Pamela Madden Nicholas G Martin Victoria L Stevens Jerry A Stitzel Robert B Weiss Peter Kraft Laura J Bierut

Arch Gen Psychiatry 2012 Aug;69(8):854-60

Washington University School of Medicine, St Louis, Missouri, USA.

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http://dx.doi.org/10.1001/archgenpsychiatry.2012.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482121PMC
August 2012

Molecular biology. Translation goes global.

Science 2011 Dec;334(6062):1509-10

Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.

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http://www.sciencemag.org/cgi/doi/10.1126/science.1216974
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http://dx.doi.org/10.1126/science.1216974DOI Listing
December 2011

Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene.

Muscle Nerve 2011 Nov;44(5):822-5

Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, USA.

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http://dx.doi.org/10.1002/mus.22226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404890PMC
November 2011

Autosomal recessive inheritance of classic Bethlem myopathy.

Neuromuscul Disord 2009 Dec 1;19(12):813-7. Epub 2009 Nov 1.

Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.nmd.2009.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2787906PMC
December 2009

Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy.

Circ Cardiovasc Genet 2009 Dec 30;2(6):544-51. Epub 2009 Sep 30.

Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital; College of Nursing, The Ohio State University, Columbus, Ohio, USA.

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https://www.ahajournals.org/doi/10.1161/CIRCGENETICS.109.867
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http://dx.doi.org/10.1161/CIRCGENETICS.109.867242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2826810PMC
December 2009

Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes.

Nicotine Tob Res 2009 Jul 12;11(7):785-96. Epub 2009 May 12.

Department of Medicine, Center for Tobacco Research and Intervention, University of Wisconsin School of Medicine and Public Health, 1930 Monroe Street, Suite 200, Madison, WI 53711, USA.

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http://dx.doi.org/10.1093/ntr/ntp064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2699926PMC
July 2009

Fine-scaled human genetic structure revealed by SNP microarrays.

Genome Res 2009 May;19(5):815-25

Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1101/gr.085589.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2675970PMC
May 2009

Sequence alterations in the YBX2 gene are associated with male factor infertility.

Fertil Steril 2009 Apr 12;91(4):1090-5. Epub 2008 Mar 12.

Department of Surgery, Division of Urology, Andrology and In Vitro Fertilization Laboratories, School of Medicine, University of Utah, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2008.01.009DOI Listing
April 2009

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Hum Mutat 2009 Apr;30(4):633-40

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.1002/humu.20913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2663021PMC
April 2009

A human polymorphism affects NEDD4L subcellular targeting by leading to two isoforms that contain or lack a C2 domain.

BMC Cell Biol 2009 Apr 13;10:26. Epub 2009 Apr 13.

Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, USA.

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http://dx.doi.org/10.1186/1471-2121-10-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678989PMC
April 2009

Down-regulation of hepcidin in porphyria cutanea tarda.

Blood 2008 Dec 22;112(12):4723-8. Epub 2008 Sep 22.

Division of Hematology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1182/blood-2008-02-138222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597139PMC
December 2008

Global expression profiling identifies a novel biosignature for protein aggregation R120GCryAB cardiomyopathy in mice.

Physiol Genomics 2008 Oct 15;35(2):165-72. Epub 2008 Jul 15.

Departments of Internal Medicine, Division of Cardiology, Center for Cardiovascular Translational Biomedicine, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1152/physiolgenomics.00297.2007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2575954PMC
October 2008

From genetics to mechanism of disease liability.

Adv Genet 2008 ;60:701-26

Department of Human Genetics, The University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1016/S0065-2660(07)00424-5DOI Listing
June 2008

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.

Ann Neurol 2008 Jan;63(1):81-9

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1002/ana.21290DOI Listing
January 2008

EGO, a novel, noncoding RNA gene, regulates eosinophil granule protein transcript expression.

Blood 2007 Jun 9;109(12):5191-8. Epub 2007 Mar 9.

School of Medicine, Department of Dermatology, University of Utah, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1182/blood-2006-06-027987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1890841PMC
June 2007

Gene expression profiling reveals unique pathways associated with differential severity of lyme arthritis.

J Immunol 2006 Dec;177(11):7930-42

Department of Pathology, University of Utah School of Medicine, 15 North Medical Drive East, , Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.4049/jimmunol.177.11.7930DOI Listing
December 2006

Altered localization of CXCL13 expressing cells in mice deficient in Pactolus following an inflammatory stimulus.

Immunology 2006 Oct 12;119(2):212-23. Epub 2006 Jul 12.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

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http://doi.wiley.com/10.1111/j.1365-2567.2006.02426.x
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http://dx.doi.org/10.1111/j.1365-2567.2006.02426.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1782351PMC
October 2006

Independent evolution of bitter-taste sensitivity in humans and chimpanzees.

Nature 2006 Apr;440(7086):930-4

Department of Human Genetics, University of Utah, 15 North 2030 East, Salt Lake City, Utah 84112-5330, USA.

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http://www.nature.com/articles/nature04655
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http://dx.doi.org/10.1038/nature04655DOI Listing
April 2006

Genome sequence of the Brown Norway rat yields insights into mammalian evolution.

Authors:
Richard A Gibbs George M Weinstock Michael L Metzker Donna M Muzny Erica J Sodergren Steven Scherer Graham Scott David Steffen Kim C Worley Paula E Burch Geoffrey Okwuonu Sandra Hines Lora Lewis Christine DeRamo Oliver Delgado Shannon Dugan-Rocha George Miner Margaret Morgan Alicia Hawes Rachel Gill Celera Robert A Holt Mark D Adams Peter G Amanatides Holly Baden-Tillson Mary Barnstead Soo Chin Cheryl A Evans Steve Ferriera Carl Fosler Anna Glodek Zhiping Gu Don Jennings Cheryl L Kraft Trixie Nguyen Cynthia M Pfannkoch Cynthia Sitter Granger G Sutton J Craig Venter Trevor Woodage Douglas Smith Hong-Mei Lee Erik Gustafson Patrick Cahill Arnold Kana Lynn Doucette-Stamm Keith Weinstock Kim Fechtel Robert B Weiss Diane M Dunn Eric D Green Robert W Blakesley Gerard G Bouffard Pieter J De Jong Kazutoyo Osoegawa Baoli Zhu Marco Marra Jacqueline Schein Ian Bosdet Chris Fjell Steven Jones Martin Krzywinski Carrie Mathewson Asim Siddiqui Natasja Wye John McPherson Shaying Zhao Claire M Fraser Jyoti Shetty Sofiya Shatsman Keita Geer Yixin Chen Sofyia Abramzon William C Nierman Paul H Havlak Rui Chen K James Durbin Amy Egan Yanru Ren Xing-Zhi Song Bingshan Li Yue Liu Xiang Qin Simon Cawley Kim C Worley A J Cooney Lisa M D'Souza Kirt Martin Jia Qian Wu Manuel L Gonzalez-Garay Andrew R Jackson Kenneth J Kalafus Michael P McLeod Aleksandar Milosavljevic Davinder Virk Andrei Volkov David A Wheeler Zhengdong Zhang Jeffrey A Bailey Evan E Eichler Eray Tuzun Ewan Birney Emmanuel Mongin Abel Ureta-Vidal Cara Woodwark Evgeny Zdobnov Peer Bork Mikita Suyama David Torrents Marina Alexandersson Barbara J Trask Janet M Young Hui Huang Huajun Wang Heming Xing Sue Daniels Darryl Gietzen Jeanette Schmidt Kristian Stevens Ursula Vitt Jim Wingrove Francisco Camara M Mar Albà Josep F Abril Roderic Guigo Arian Smit Inna Dubchak Edward M Rubin Olivier Couronne Alexander Poliakov Norbert Hübner Detlev Ganten Claudia Goesele Oliver Hummel Thomas Kreitler Young-Ae Lee Jan Monti Herbert Schulz Heike Zimdahl Heinz Himmelbauer Hans Lehrach Howard J Jacob Susan Bromberg Jo Gullings-Handley Michael I Jensen-Seaman Anne E Kwitek Jozef Lazar Dean Pasko Peter J Tonellato Simon Twigger Chris P Ponting Jose M Duarte Stephen Rice Leo Goodstadt Scott A Beatson Richard D Emes Eitan E Winter Caleb Webber Petra Brandt Gerald Nyakatura Margaret Adetobi Francesca Chiaromonte Laura Elnitski Pallavi Eswara Ross C Hardison Minmei Hou Diana Kolbe Kateryna Makova Webb Miller Anton Nekrutenko Cathy Riemer Scott Schwartz James Taylor Shan Yang Yi Zhang Klaus Lindpaintner T Dan Andrews Mario Caccamo Michele Clamp Laura Clarke Valerie Curwen Richard Durbin Eduardo Eyras Stephen M Searle Gregory M Cooper Serafim Batzoglou Michael Brudno Arend Sidow Eric A Stone J Craig Venter Bret A Payseur Guillaume Bourque Carlos López-Otín Xose S Puente Kushal Chakrabarti Sourav Chatterji Colin Dewey Lior Pachter Nicolas Bray Von Bing Yap Anat Caspi Glenn Tesler Pavel A Pevzner David Haussler Krishna M Roskin Robert Baertsch Hiram Clawson Terrence S Furey Angie S Hinrichs Donna Karolchik William J Kent Kate R Rosenbloom Heather Trumbower Matt Weirauch David N Cooper Peter D Stenson Bin Ma Michael Brent Manimozhiyan Arumugam David Shteynberg Richard R Copley Martin S Taylor Harold Riethman Uma Mudunuri Jane Peterson Mark Guyer Adam Felsenfeld Susan Old Stephen Mockrin Francis Collins

Nature 2004 Apr;428(6982):493-521

Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, MS BCM226, One Baylor Plaza, Houston, Texas 77030, USA. http://www.hgsc.bcm.tmc.edu

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http://dx.doi.org/10.1038/nature02426DOI Listing
April 2004

Replication of chimeric human immunodeficiency virus type 1 (HIV-1) containing HIV-2 integrase (IN): naturally selected mutations in IN augment DNA synthesis.

J Virol 2003 Oct;77(20):11050-9

Departments of Microbiology. Medicine. Center for Biophysical Sciences and Engineering, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC224969PMC
http://dx.doi.org/10.1128/jvi.77.20.11050-11059.2003DOI Listing
October 2003

Common variant of human NEDD4L activates a cryptic splice site to form a frameshifted transcript.

J Hum Genet 2002 ;47(12):665-76

Department of Human Genetics, Rm 308 BPRB, 20 South 2030 East, University of Utah, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1007/s100380200102DOI Listing
July 2003

Rapid direct sequence analysis of the dystrophin gene.

Am J Hum Genet 2003 Apr 11;72(4):931-9. Epub 2003 Mar 11.

Department of Neurology, University of Utah, Salt Lake City, UT, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180355PMC
http://dx.doi.org/10.1086/374176DOI Listing
April 2003

Initial sequencing and comparative analysis of the mouse genome.

Authors:
Robert H Waterston Kerstin Lindblad-Toh Ewan Birney Jane Rogers Josep F Abril Pankaj Agarwal Richa Agarwala Rachel Ainscough Marina Alexandersson Peter An Stylianos E Antonarakis John Attwood Robert Baertsch Jonathon Bailey Karen Barlow Stephan Beck Eric Berry Bruce Birren Toby Bloom Peer Bork Marc Botcherby Nicolas Bray Michael R Brent Daniel G Brown Stephen D Brown Carol Bult John Burton Jonathan Butler Robert D Campbell Piero Carninci Simon Cawley Francesca Chiaromonte Asif T Chinwalla Deanna M Church Michele Clamp Christopher Clee Francis S Collins Lisa L Cook Richard R Copley Alan Coulson Olivier Couronne James Cuff Val Curwen Tim Cutts Mark Daly Robert David Joy Davies Kimberly D Delehaunty Justin Deri Emmanouil T Dermitzakis Colin Dewey Nicholas J Dickens Mark Diekhans Sheila Dodge Inna Dubchak Diane M Dunn Sean R Eddy Laura Elnitski Richard D Emes Pallavi Eswara Eduardo Eyras Adam Felsenfeld Ginger A Fewell Paul Flicek Karen Foley Wayne N Frankel Lucinda A Fulton Robert S Fulton Terrence S Furey Diane Gage Richard A Gibbs Gustavo Glusman Sante Gnerre Nick Goldman Leo Goodstadt Darren Grafham Tina A Graves Eric D Green Simon Gregory Roderic Guigó Mark Guyer Ross C Hardison David Haussler Yoshihide Hayashizaki LaDeana W Hillier Angela Hinrichs Wratko Hlavina Timothy Holzer Fan Hsu Axin Hua Tim Hubbard Adrienne Hunt Ian Jackson David B Jaffe L Steven Johnson Matthew Jones Thomas A Jones Ann Joy Michael Kamal Elinor K Karlsson Donna Karolchik Arkadiusz Kasprzyk Jun Kawai Evan Keibler Cristyn Kells W James Kent Andrew Kirby Diana L Kolbe Ian Korf Raju S Kucherlapati Edward J Kulbokas David Kulp Tom Landers J P Leger Steven Leonard Ivica Letunic Rosie Levine Jia Li Ming Li Christine Lloyd Susan Lucas Bin Ma Donna R Maglott Elaine R Mardis Lucy Matthews Evan Mauceli John H Mayer Megan McCarthy W Richard McCombie Stuart McLaren Kirsten McLay John D McPherson Jim Meldrim Beverley Meredith Jill P Mesirov Webb Miller Tracie L Miner Emmanuel Mongin Kate T Montgomery Michael Morgan Richard Mott James C Mullikin Donna M Muzny William E Nash Joanne O Nelson Michael N Nhan Robert Nicol Zemin Ning Chad Nusbaum Michael J O'Connor Yasushi Okazaki Karen Oliver Emma Overton-Larty Lior Pachter Genís Parra Kymberlie H Pepin Jane Peterson Pavel Pevzner Robert Plumb Craig S Pohl Alex Poliakov Tracy C Ponce Chris P Ponting Simon Potter Michael Quail Alexandre Reymond Bruce A Roe Krishna M Roskin Edward M Rubin Alistair G Rust Ralph Santos Victor Sapojnikov Brian Schultz Jörg Schultz Matthias S Schwartz Scott Schwartz Carol Scott Steven Seaman Steve Searle Ted Sharpe Andrew Sheridan Ratna Shownkeen Sarah Sims Jonathan B Singer Guy Slater Arian Smit Douglas R Smith Brian Spencer Arne Stabenau Nicole Stange-Thomann Charles Sugnet Mikita Suyama Glenn Tesler Johanna Thompson David Torrents Evanne Trevaskis John Tromp Catherine Ucla Abel Ureta-Vidal Jade P Vinson Andrew C Von Niederhausern Claire M Wade Melanie Wall Ryan J Weber Robert B Weiss Michael C Wendl Anthony P West Kris Wetterstrand Raymond Wheeler Simon Whelan Jamey Wierzbowski David Willey Sophie Williams Richard K Wilson Eitan Winter Kim C Worley Dudley Wyman Shan Yang Shiaw-Pyng Yang Evgeny M Zdobnov Michael C Zody Eric S Lander

Nature 2002 Dec;420(6915):520-62

Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA.

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http://dx.doi.org/10.1038/nature01262DOI Listing
December 2002

A strong signature of balancing selection in the 5' cis-regulatory region of CCR5.

Proc Natl Acad Sci U S A 2002 Aug 29;99(16):10539-44. Epub 2002 Jul 29.

Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1073/pnas.162046399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC124967PMC
August 2002