Mark Leppert

Mark Leppert

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Mark Leppert

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A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.

Hum Mol Genet 2018 07;27(13):2406

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

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http://dx.doi.org/10.1093/hmg/ddy196DOI Listing
July 2018

Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.

Birth Defects Res 2018 04 23;110(7):610-617. Epub 2018 Mar 23.

Department of Pediatrics (Neonatology), University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/bdr2.1223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903934PMC
April 2018

Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci.

Hum Genet 2017 06 8;136(6):771-800. Epub 2017 Apr 8.

Department of Epidemiology, UNC Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1007/s00439-017-1787-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485655PMC
June 2017

A Rare Variant in Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree.

Mol Neuropsychiatry 2016 Oct 3;2(3):145-150. Epub 2016 Aug 3.

Department of Psychiatry, University of California, San Francisco, Calif., USA.

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http://dx.doi.org/10.1159/000448041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109989PMC
October 2016

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

Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

PLoS Genet 2013 Mar 21;9(3):e1003379. Epub 2013 Mar 21.

Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, United States of America.

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https://dx.plos.org/10.1371/journal.pgen.1003379
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http://dx.doi.org/10.1371/journal.pgen.1003379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605054PMC
March 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

Exome analysis of a family with pleiotropic congenital heart disease.

Circ Cardiovasc Genet 2012 Apr 15;5(2):175-82. Epub 2012 Feb 15.

Department of Pediatrics, Divisions of Cardiology and Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.111.961797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3329568PMC
April 2012

AGT genetic variation, plasma AGT, and blood pressure: An analysis of the Utah Genetic Reference Project pedigrees.

Am J Hypertens 2010 Aug 22;23(8):917-23. Epub 2010 Apr 22.

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

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https://academic.oup.com/ajh/article-lookup/doi/10.1038/ajh.
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http://dx.doi.org/10.1038/ajh.2010.83DOI Listing
August 2010

(1)H nuclear magnetic resonance metabolomics analysis identifies novel urinary biomarkers for lung function.

J Proteome Res 2010 Jun;9(6):3083-90

Center for Biomarker Research and Personalized Medicine, School of Pharmacy, Virginia Commonwealth University, Richmond, Virginia 23298, USA.

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http://dx.doi.org/10.1021/pr1000048DOI Listing
June 2010

Linkage analysis of Tourette syndrome in a large Utah pedigree.

Am J Med Genet B Neuropsychiatr Genet 2010 Mar;153B(2):656-662

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

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http://dx.doi.org/10.1002/ajmg.b.31035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923637PMC
March 2010

Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.

J Mol Diagn 2010 Mar 21;12(2):213-9. Epub 2010 Jan 21.

Department of Pathology, Human Genetics, University of Utah School of Medicine and the Associated Regional and University Pathologists Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.

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http://dx.doi.org/10.2353/jmoldx.2010.090080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2871728PMC
March 2010

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

High-sensitivity nanoLC-MS/MS analysis of urinary desmosine and isodesmosine.

Anal Chem 2009 Mar;81(5):1881-7

Institute for Research in Immunology and Cancer and Department of Chemistry, Université de Montréal, P.O. Box 6128, Station Centre-Ville Montréal QC H3C 3J7, Canada.

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http://pubs.acs.org/doi/abs/10.1021/ac801745d
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http://dx.doi.org/10.1021/ac801745dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2787797PMC
March 2009

From linkage maps to quantitative trait loci: the history and science of the Utah genetic reference project.

Annu Rev Genomics Hum Genet 2008 ;9:347-58

1Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma 73104; email: , 2Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112; email: ;

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http://dx.doi.org/10.1146/annurev.genom.9.081307.164441DOI Listing
December 2008

Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.

Am J Cardiol 2008 Sep 26;102(5):629-31. Epub 2008 Jun 26.

Department of Pediatrics, Division of Cardiology, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1016/j.amjcard.2008.04.044DOI Listing
September 2008

Identification of a herpes simplex labialis susceptibility region on human chromosome 21.

J Infect Dis 2008 Feb;197(3):340-6

Division of Infectious Diseases, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1086/525540DOI Listing
February 2008

American founder mutation for attenuated familial adenomatous polyposis.

Clin Gastroenterol Hepatol 2008 Jan 11;6(1):46-52. Epub 2007 Dec 11.

Department of Oncological Sciences, University of Utah, Salt Lake City, Utah 84112-5550, USA.

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http://dx.doi.org/10.1016/j.cgh.2007.09.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2245898PMC
January 2008

A second generation human haplotype map of over 3.1 million SNPs.

Authors:
Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):851-61

The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.

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https://www.genome.gov/Pages/Newsroom/CurrentNewsReleases/In
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http://www.nature.com/doifinder/10.1038/nature06258
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http://dx.doi.org/10.1038/nature06258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689609PMC
October 2007

Genome-wide detection and characterization of positive selection in human populations.

Authors:
Pardis C Sabeti Patrick Varilly Ben Fry Jason Lohmueller Elizabeth Hostetter Chris Cotsapas Xiaohui Xie Elizabeth H Byrne Steven A McCarroll Rachelle Gaudet Stephen F Schaffner Eric S Lander Kelly A Frazer Dennis G Ballinger David R Cox David A Hinds Laura L Stuve Richard A Gibbs John W Belmont Andrew Boudreau Paul Hardenbol Suzanne M Leal Shiran Pasternak David A Wheeler Thomas D Willis Fuli Yu Huanming Yang Changqing Zeng Yang Gao Haoran Hu Weitao Hu Chaohua Li Wei Lin Siqi Liu Hao Pan Xiaoli Tang Jian Wang Wei Wang Jun Yu Bo Zhang Qingrun Zhang Hongbin Zhao Hui Zhao Jun Zhou Stacey B Gabriel Rachel Barry Brendan Blumenstiel Amy Camargo Matthew Defelice Maura Faggart Mary Goyette Supriya Gupta Jamie Moore Huy Nguyen Robert C Onofrio Melissa Parkin Jessica Roy Erich Stahl Ellen Winchester Liuda Ziaugra David Altshuler Yan Shen Zhijian Yao Wei Huang Xun Chu Yungang He Li Jin Yangfan Liu Yayun Shen Weiwei Sun Haifeng Wang Yi Wang Ying Wang Xiaoyan Xiong Liang Xu Mary M Y Waye Stephen K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R Oliphant Mark S Chee Alexandre Montpetit Fanny Chagnon Vincent Ferretti Martin Leboeuf Jean-François Olivier Michael S Phillips Stéphanie Roumy Clémentine Sallée Andrei Verner Thomas J Hudson Pui-Yan Kwok Dongmei Cai Daniel C Koboldt Raymond D Miller Ludmila Pawlikowska Patricia Taillon-Miller Ming Xiao Lap-Chee Tsui William Mak You Qiang Song Paul K H Tam Yusuke Nakamura Takahisa Kawaguchi Takuya Kitamoto Takashi Morizono Atsushi Nagashima Yozo Ohnishi Akihiro Sekine Toshihiro Tanaka Tatsuhiko Tsunoda Panos Deloukas Christine P Bird Marcos Delgado Emmanouil T Dermitzakis Rhian Gwilliam Sarah Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon Smith Marcela K Tello-Ruiz Gudmundur A Thorisson Aravinda Chakravarti Peter E Chen David J Cutler Carl S Kashuk Shin Lin Gonçalo R Abecasis Weihua Guan Yun Li Heather M Munro Zhaohui Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda Todd A Johnson James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L Willey Zhu Chen Hua Han Le Kang Martin Godbout John C Wallenburg Paul L'Archevêque Guy Bellemare Koji Saeki Hongguang Wang Daochang An Hongbo Fu Qing Li Zhen Wang Renwu Wang Arthur L Holden Lisa D Brooks Jean E McEwen Mark S Guyer Vivian Ota Wang Jane L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):913-8

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA.

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https://www.genome.gov/Pages/Newsroom/CurrentNewsReleases/Le
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http://www.nature.com/doifinder/10.1038/nature06250
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http://dx.doi.org/10.1038/nature06250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687721PMC
October 2007

The PHQ-9 as a brief assessment of lifetime major depression.

Psychol Assess 2007 Jun;19(2):247-51

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

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http://dx.doi.org/10.1037/1040-3590.19.2.247DOI Listing
June 2007

Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12.

Am J Med Genet A 2006 Nov;140(21):2368-73

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/ajmg.a.31471DOI Listing
November 2006

Human imprinted chromosomal regions are historical hot-spots of recombination.

PLoS Genet 2006 Jul 22;2(7):e101. Epub 2006 May 22.

Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1371/journal.pgen.0020101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1487178PMC
July 2006

Evidence for linkage on chromosome 3q25-27 in a large autism extended pedigree.

Hum Hered 2005 2;60(4):220-6. Epub 2006 Jan 2.

Neurodevelopmental Genetics Project, Department of Psychiatry, University of Utah, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1159/000090546DOI Listing
June 2006

Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation.

Arch Ophthalmol 2006 Feb;124(2):257-63

Department of Foods and Nutrition, University of Utah, Salt Lake City, USA.

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http://dx.doi.org/10.1001/archopht.124.2.257DOI Listing
February 2006

Interindividual variability and parent of origin DNA methylation differences at specific human Alu elements.

Hum Mol Genet 2005 Aug 22;14(15):2135-43. Epub 2005 Jun 22.

Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, 3307 North Broad Street, Philadelphia, PA 19140, USA.

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http://dx.doi.org/10.1093/hmg/ddi218DOI Listing
August 2005

Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2).

Am J Med Genet B Neuropsychiatr Genet 2005 May;135B(1):42-6

Neurodevelopmental Genetics Project, Department of Psychiatry, University of Utah, Salt Lake City, Utah 84108, USA.

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http://doi.wiley.com/10.1002/ajmg.b.30168
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http://dx.doi.org/10.1002/ajmg.b.30168DOI Listing
May 2005

The power to detect genetic linkage for quantitative traits in the Utah CEPH pedigrees.

J Hum Genet 2005 29;50(2):69-75. Epub 2005 Jan 29.

Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/s10038-004-0222-8DOI Listing
April 2005

Ethnicity and human genetic linkage maps.

Am J Hum Genet 2005 Feb 30;76(2):276-90. Epub 2004 Dec 30.

Department of Genetics, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1086/427926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196373PMC
February 2005

Genome-wide linkage analysis replicates susceptibility locus for fasting plasma triglycerides: NHLBI Family Heart Study.

Hum Genet 2004 Nov 16;115(6):468-74. Epub 2004 Sep 16.

Division of Epidemiology, University of Minnesota, 1300 South Second Street, Suite 300, Minneapolis, MN 55454, USA.

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http://link.springer.com/10.1007/s00439-004-1182-y
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http://dx.doi.org/10.1007/s00439-004-1182-yDOI Listing
November 2004

A longitudinal study of X-inactivation ratio in human females.

Hum Genet 2004 Oct 28;115(5):387-92. Epub 2004 Aug 28.

Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, Philadelphia, PA 19140, USA.

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http://dx.doi.org/10.1007/s00439-004-1177-8DOI Listing
October 2004

SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex.

Immunogenetics 2004 Jul 5;56(4):225-37. Epub 2004 Jun 5.

Clinical Transplantation Laboratory, Guy's Hospital, 3rd Floor New Guy's House, St. Thomas' Street, London, SE1 9RT, UK.

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http://dx.doi.org/10.1007/s00251-004-0674-1DOI Listing
July 2004

TXNIP gene not associated with familial combined hyperlipidemia in the NHLBI Family Heart Study.

Atherosclerosis 2004 Jun;174(2):357-62

Neurodevelopmental Genetics Project, University of Utah, 421 Wakara Way, Suite 143, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1016/j.atherosclerosis.2004.02.004DOI Listing
June 2004

Nonsyndromic seizure disorders: epilepsy and the use of the internet to advance research.

Annu Rev Genomics Hum Genet 2003 ;4:437-57

Department of Human Genetics, University of Utah, Salt Lake City, Utah 84112-5330, USA.

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http://dx.doi.org/10.1146/annurev.genom.4.071902.102155DOI Listing
December 2003

The Arg16Gly polymorphism of the beta2-adrenergic receptor and left ventricular systolic function.

Am J Hypertens 2003 Nov;16(11 Pt 1):945-51

Division of Epidemiology, University of Minnesota, Minneapolis, Minnesota 55454, USA.

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http://dx.doi.org/10.1016/s0895-7061(03)01001-xDOI Listing
November 2003

Further evidence for the role of genes on chromosome 2 and chromosome 5 in the inheritance of pulmonary function.

Am J Respir Crit Care Med 2003 Sep 5;168(5):556-61. Epub 2003 Jun 5.

University of Utah, Department of Human Genetics, 15 North 2030 East, Room 2100, Salt Lake City, UT 84112-5330, USA.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200303-410OC
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http://dx.doi.org/10.1164/rccm.200303-410OCDOI Listing
September 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

Familial aggregation of abnormal methylation of parental alleles at the IGF2/H19 and IGF2R differentially methylated regions.

Hum Mol Genet 2003 Jul;12(13):1569-78

Fels Institute for Cancer Research and Molecular Biology, Temple University School of Medicine, 3307 North Broad Street, Philadelphia, PA 19140, USA.

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http://dx.doi.org/10.1093/hmg/ddg167DOI Listing
July 2003

A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study.

Am J Respir Crit Care Med 2003 Jun 13;167(11):1528-33. Epub 2003 Mar 13.

Boston University School of Medicine, B-601, 715 Albany Street, Boston, MA 02118, USA.

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http://dx.doi.org/10.1164/rccm.200207-755OCDOI Listing
June 2003

A genome-wide affected sibpair linkage analysis of hypertension: the HyperGEN network.

Am J Hypertens 2003 Feb;16(2):148-50

Division of Biostatistics, Washington University School of Medicine, St Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1016/s0895-7061(02)03247-8DOI Listing
February 2003

Positional cloning of the human quantitative trait locus underlying taste sensitivity to phenylthiocarbamide.

Science 2003 Feb;299(5610):1221-5

National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.

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http://www.sciencemag.org/cgi/doi/10.1126/science.1080190
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February 2003

Genome scans for blood pressure and hypertension: the National Heart, Lung, and Blood Institute Family Heart Study.

Hypertension 2002 Jul;40(1):1-6

Cardiovascular Genetics Program, Cardiology Division, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1161/01.hyp.0000022660.28915.b1DOI Listing
July 2002

Prognostic significance of p53 mutations in colon cancer at the population level.

Int J Cancer 2002 Jun;99(4):597-602

Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1002/ijc.10405DOI Listing
June 2002

Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings.

Invest Ophthalmol Vis Sci 2002 Feb;43(2):466-73

Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.

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February 2002