Nathan O Stitziel

Nathan O Stitziel

UNVERIFIED PROFILE

Are you Nathan O Stitziel?   Register this Author

Register author
Nathan O Stitziel

Nathan O Stitziel

Publications by authors named "Nathan O Stitziel"

Are you Nathan O Stitziel?   Register this Author

43Publications

2395Reads

5Profile Views

Capitalizing on Insights from Human Genetics to Identify Novel Therapeutic Targets for Coronary Artery Disease.

Annu Rev Med 2019 01 24;70:19-32. Epub 2018 Oct 24.

Cardiovascular Division, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri 63110, USA; email:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1146/annurev-med-041717-085853DOI Listing
January 2019

Genetics of the extracellular matrix in aortic aneurysmal diseases.

Matrix Biol 2018 10 12;71-72:128-143. Epub 2018 Apr 12.

Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA; McDonell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.matbio.2018.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146054PMC
October 2018

Genetic association studies in cardiovascular diseases: Do we have enough power?

Trends Cardiovasc Med 2017 08 24;27(6):397-404. Epub 2017 Mar 24.

Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, MO; Department of Genetics, Washington University School of Medicine, St. Louis, MO; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tcm.2017.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642948PMC
August 2017

Leveraging human genetics to guide drug target discovery.

Trends Cardiovasc Med 2017 07 26;27(5):352-359. Epub 2016 Aug 26.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA; Department of Medicine, Harvard Medical School, Boston, MA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tcm.2016.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5326691PMC
July 2017

Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting.

Circulation 2017 May 21;135(22):2091-2101. Epub 2017 Feb 21.

From Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston (P.N., S.K.); Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge (P.N., S.K.); Department of Medicine, Harvard Medical School, Boston, MA (P.N., S.K.); Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, United Kingdom (R.Y., A.B.); Division of Statistical Genetics, Department of Genetics, Cardiovascular Division, Department of Medicine, and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO (N.O.S.); British Heart Foundation Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences (S.P., N.S.), and Robertson Centre for Biostatistics (I.F.), University of Glasgow, United Kingdom; Generation Scotland, Centre for Genomic and Experimental Medicine, University of Edinburgh, United Kingdom (S.P.); Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY (U.B., R.M., S.S., V.F.); Genetics and Pharmacogenomics Department, Merck Sharpe & Dohme Corp, Boston, MA (D.F.R.); and Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (D.J.R.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.116.024436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5484076PMC
May 2017

Human genetic insights into lipoproteins and risk of cardiometabolic disease.

Curr Opin Lipidol 2017 Apr;28(2):113-119

aCardiovascular Division, Department of Medicine bDepartment of Genetics cMcDonnell Genome Institute, Washington University School of Medicine, Saint Louis, Missouri, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MOL.0000000000000389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584563PMC
April 2017

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease.

J Am Coll Cardiol 2017 Apr 3;69(16):2054-2063. Epub 2017 Apr 3.

Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts; Cardiovascular Research Center and Cardiology Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2017.02.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404817PMC
April 2017

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Authors:
Thomas R Webb Jeanette Erdmann Kathleen E Stirrups Nathan O Stitziel Nicholas G D Masca Henning Jansen Stavroula Kanoni Christopher P Nelson Paola G Ferrario Inke R König John D Eicher Andrew D Johnson Stephen E Hamby Christer Betsholtz Arno Ruusalepp Oscar Franzén Eric E Schadt Johan L M Björkegren Peter E Weeke Paul L Auer Ursula M Schick Yingchang Lu He Zhang Marie-Pierre Dube Anuj Goel Martin Farrall Gina M Peloso Hong-Hee Won Ron Do Erik van Iperen Jochen Kruppa Anubha Mahajan Robert A Scott Christina Willenborg Peter S Braund Julian C van Capelleveen Alex S F Doney Louise A Donnelly Rosanna Asselta Pier A Merlini Stefano Duga Nicola Marziliano Josh C Denny Christian Shaffer Nour Eddine El-Mokhtari Andre Franke Stefanie Heilmann Christian Hengstenberg Per Hoffmann Oddgeir L Holmen Kristian Hveem Jan-Håkan Jansson Karl-Heinz Jöckel Thorsten Kessler Jennifer Kriebel Karl L Laugwitz Eirini Marouli Nicola Martinelli Mark I McCarthy Natalie R Van Zuydam Christa Meisinger Tõnu Esko Evelin Mihailov Stefan A Escher Maris Alver Susanne Moebus Andrew D Morris Jarma Virtamo Majid Nikpay Oliviero Olivieri Sylvie Provost Alaa AlQarawi Neil R Robertson Karen O Akinsansya Dermot F Reilly Thomas F Vogt Wu Yin Folkert W Asselbergs Charles Kooperberg Rebecca D Jackson Eli Stahl Martina Müller-Nurasyid Konstantin Strauch Tibor V Varga Melanie Waldenberger Lingyao Zeng Rajiv Chowdhury Veikko Salomaa Ian Ford J Wouter Jukema Philippe Amouyel Jukka Kontto Børge G Nordestgaard Jean Ferrières Danish Saleheen Naveed Sattar Praveen Surendran Aline Wagner Robin Young Joanna M M Howson Adam S Butterworth John Danesh Diego Ardissino Erwin P Bottinger Raimund Erbel Paul W Franks Domenico Girelli Alistair S Hall G Kees Hovingh Adnan Kastrati Wolfgang Lieb Thomas Meitinger William E Kraus Svati H Shah Ruth McPherson Marju Orho-Melander Olle Melander Andres Metspalu Colin N A Palmer Annette Peters Daniel J Rader Muredach P Reilly Ruth J F Loos Alex P Reiner Dan M Roden Jean-Claude Tardif John R Thompson Nicholas J Wareham Hugh Watkins Cristen J Willer Nilesh J Samani Heribert Schunkert Panos Deloukas Sekar Kathiresan

J Am Coll Cardiol 2017 Feb;69(7):823-836

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts; Department of Medicine, Harvard Medical School, Boston, Massachusetts; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts; Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacc.2016.11.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314135PMC
February 2017

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.

Trends Cardiovasc Med 2017 01 14;27(1):51-58. Epub 2016 Jun 14.

Center for Cardiovascular Research, Cardiovascular Division, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., Campus PO Box 8066, St. Louis, MO 63110-1093. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tcm.2016.06.005DOI Listing
January 2017

Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

Authors:
Pradeep Natarajan Joshua C Bis Lawrence F Bielak Amanda J Cox Marcus Dörr Mary F Feitosa Nora Franceschini Xiuqing Guo Shih-Jen Hwang Aaron Isaacs Min A Jhun Maryam Kavousi Ruifang Li-Gao Leo-Pekka Lyytikäinen Riccardo E Marioni Ulf Schminke Nathan O Stitziel Hayato Tada Jessica van Setten Albert V Smith Dina Vojinovic Lisa R Yanek Jie Yao Laura M Yerges-Armstrong Najaf Amin Usman Baber Ingrid B Borecki J Jeffrey Carr Yii-Der Ida Chen L Adrienne Cupples Pim A de Jong Harry de Koning Bob D de Vos Ayse Demirkan Valentin Fuster Oscar H Franco Mark O Goodarzi Tamara B Harris Susan R Heckbert Gerardo Heiss Udo Hoffmann Albert Hofman Ivana Išgum J Wouter Jukema Mika Kähönen Sharon L R Kardia Brian G Kral Lenore J Launer Joe Massaro Roxana Mehran Braxton D Mitchell Thomas H Mosley Renée de Mutsert Anne B Newman Khanh-Dung Nguyen Kari E North Jeffrey R O'Connell Matthijs Oudkerk James S Pankow Gina M Peloso Wendy Post Michael A Province Laura M Raffield Olli T Raitakari Dermot F Reilly Fernando Rivadeneira Frits Rosendaal Samantha Sartori Kent D Taylor Alexander Teumer Stella Trompet Stephen T Turner Andre G Uitterlinden Dhananjay Vaidya Aad van der Lugt Uwe Völker Joanna M Wardlaw Christina L Wassel Stefan Weiss Mary K Wojczynski Diane M Becker Lewis C Becker Eric Boerwinkle Donald W Bowden Ian J Deary Abbas Dehghan Stephan B Felix Vilmundur Gudnason Terho Lehtimäki Rasika Mathias Dennis O Mook-Kanamori Bruce M Psaty Daniel J Rader Jerome I Rotter James G Wilson Cornelia M van Duijn Henry Völzke Sekar Kathiresan Patricia A Peyser Christopher J O'Donnell

Circ Cardiovasc Genet 2016 Dec 21;9(6):511-520. Epub 2016 Nov 21.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.116.001572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418659PMC
December 2016

Variants in ANGPTL4 and the Risk of Coronary Artery Disease.

N Engl J Med 2016 12;375(23):2306

Washington University School of Medicine, St. Louis, MO

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1607380DOI Listing
December 2016

Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

Nat Genet 2016 10 12;48(10):1162-70. Epub 2016 Sep 12.

Division of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320952PMC
October 2016

Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Proc Natl Acad Sci U S A 2016 08 18;113(31):8759-64. Epub 2016 Jul 18.

Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1601442113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978273PMC
August 2016

Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits.

Circ Cardiovasc Genet 2016 Jun 24;9(3):250-8. Epub 2016 Mar 24.

From the Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia (J.R.G.); Cardiovascular Division, Department of Medicine (N.O.S.), Department of Genetics and McDonnell Genome Institute (N.O.S.), Washington University School of Medicine, St. Louis, MO; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia (W.Z., C.X., D.S.); Department of Cardiovascular Medicine, The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom (M.F., H.W.); Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada (R.M.); Medizinische Klinik II, University of Lübeck, Lübeck, Germany (J.E.); William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University London, London, United Kingdom (P.D.); Deutsches Herzzentrum München, Technische Universität München, DZHK, Munich Heart Alliance, München, Germany (H.S.); Department of Cardiovascular Sciences, University of Leicester & NIHR Leicester Cardiovascular Biomedical Research Unit, Glenfield Hospital, Leicester, United Kingdom (N.J.S.); Center for Human Genetic Research, Cardiovascular Research Center, Massachusetts General Hospital, Boston (S.K.); Department of Medicine, Harvard Medical School, Boston, MA (S.K.); Program in Medical and Population Genetics, Broad Institute, Cambridge, MA (S.K.); and Department of Medicine, Columbia University, New York, NY (M.P.R.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.115.001374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015681PMC
June 2016

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

Authors:
Nathan O Stitziel Kathleen E Stirrups Nicholas G D Masca Jeanette Erdmann Paola G Ferrario Inke R König Peter E Weeke Thomas R Webb Paul L Auer Ursula M Schick Yingchang Lu He Zhang Marie-Pierre Dube Anuj Goel Martin Farrall Gina M Peloso Hong-Hee Won Ron Do Erik van Iperen Stavroula Kanoni Jochen Kruppa Anubha Mahajan Robert A Scott Christina Willenberg Peter S Braund Julian C van Capelleveen Alex S F Doney Louise A Donnelly Rosanna Asselta Piera A Merlini Stefano Duga Nicola Marziliano Josh C Denny Christian M Shaffer Nour Eddine El-Mokhtari Andre Franke Omri Gottesman Stefanie Heilmann Christian Hengstenberg Per Hoffman Oddgeir L Holmen Kristian Hveem Jan-Håkan Jansson Karl-Heinz Jöckel Thorsten Kessler Jennifer Kriebel Karl L Laugwitz Eirini Marouli Nicola Martinelli Mark I McCarthy Natalie R Van Zuydam Christa Meisinger Tõnu Esko Evelin Mihailov Stefan A Escher Maris Alver Susanne Moebus Andrew D Morris Martina Müller-Nurasyid Majid Nikpay Oliviero Olivieri Louis-Philippe Lemieux Perreault Alaa AlQarawi Neil R Robertson Karen O Akinsanya Dermot F Reilly Thomas F Vogt Wu Yin Folkert W Asselbergs Charles Kooperberg Rebecca D Jackson Eli Stahl Konstantin Strauch Tibor V Varga Melanie Waldenberger Lingyao Zeng Aldi T Kraja Chunyu Liu George B Ehret Christopher Newton-Cheh Daniel I Chasman Rajiv Chowdhury Marco Ferrario Ian Ford J Wouter Jukema Frank Kee Kari Kuulasmaa Børge G Nordestgaard Markus Perola Danish Saleheen Naveed Sattar Praveen Surendran David Tregouet Robin Young Joanna M M Howson Adam S Butterworth John Danesh Diego Ardissino Erwin P Bottinger Raimund Erbel Paul W Franks Domenico Girelli Alistair S Hall G Kees Hovingh Adnan Kastrati Wolfgang Lieb Thomas Meitinger William E Kraus Svati H Shah Ruth McPherson Marju Orho-Melander Olle Melander Andres Metspalu Colin N A Palmer Annette Peters Daniel Rader Muredach P Reilly Ruth J F Loos Alex P Reiner Dan M Roden Jean-Claude Tardif John R Thompson Nicholas J Wareham Hugh Watkins Cristen J Willer Sekkar Kathiresan Panos Deloukas Nilesh J Samani Heribert Schunkert

N Engl J Med 2016 03 2;374(12):1134-44. Epub 2016 Mar 2.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1507652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850838PMC
March 2016

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Nature 2015 Feb 10;518(7537):102-6. Epub 2014 Dec 10.

1] Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [2] Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. [3] Department of Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA. [4] Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02142, USA.

View Article

Download full-text PDF

Source
http://kooperberg.fhcrc.org/papers/2015do.pdf
Web Search
http://www.nature.com/doifinder/10.1038/nature13917
Publisher Site
http://dx.doi.org/10.1038/nature13917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4319990PMC
February 2015

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

N Engl J Med 2014 Nov 12;371(22):2072-82. Epub 2014 Nov 12.

Cardiovascular Division, Department of Medicine, Division of Statistical Genomics, Washington University School of Medicine, St. Louis, MO, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1405386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335708PMC
November 2014

A clinical approach to inherited premature coronary artery disease.

Circ Cardiovasc Genet 2014 Aug;7(4):558-64

From the Center for Cardiovascular Genetics, Cardiovascular Division, Department of Medicine (N.O.S.) and Division of Statistical Genomics (N.O.S.), Washington University School of Medicine, Saint Louis, MO; and Cardiovascular Division, Brigham and Women's Hospital (C.A.M.) and Department of Medicine (C.A.M.), Harvard Medical School, Boston, MA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGENETICS.113.000152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403638PMC
August 2014

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

N Engl J Med 2014 Jul 18;371(1):22-31. Epub 2014 Jun 18.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1307095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180269PMC
July 2014

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

PLoS Genet 2014 Jul 31;10(7):e1004494. Epub 2014 Jul 31.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117444PMC
July 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Authors:
Gina M Peloso Paul L Auer Joshua C Bis Arend Voorman Alanna C Morrison Nathan O Stitziel Jennifer A Brody Sumeet A Khetarpal Jacy R Crosby Myriam Fornage Aaron Isaacs Johanna Jakobsdottir Mary F Feitosa Gail Davies Jennifer E Huffman Ani Manichaikul Brian Davis Kurt Lohman Aron Y Joon Albert V Smith Megan L Grove Paolo Zanoni Valeska Redon Serkalem Demissie Kim Lawson Ulrike Peters Christopher Carlson Rebecca D Jackson Kelli K Ryckman Rachel H Mackey Jennifer G Robinson David S Siscovick Pamela J Schreiner Josyf C Mychaleckyj James S Pankow Albert Hofman Andre G Uitterlinden Tamara B Harris Kent D Taylor Jeanette M Stafford Lindsay M Reynolds Riccardo E Marioni Abbas Dehghan Oscar H Franco Aniruddh P Patel Yingchang Lu George Hindy Omri Gottesman Erwin P Bottinger Olle Melander Marju Orho-Melander Ruth J F Loos Stefano Duga Piera Angelica Merlini Martin Farrall Anuj Goel Rosanna Asselta Domenico Girelli Nicola Martinelli Svati H Shah William E Kraus Mingyao Li Daniel J Rader Muredach P Reilly Ruth McPherson Hugh Watkins Diego Ardissino Qunyuan Zhang Judy Wang Michael Y Tsai Herman A Taylor Adolfo Correa Michael E Griswold Leslie A Lange John M Starr Igor Rudan Gudny Eiriksdottir Lenore J Launer Jose M Ordovas Daniel Levy Y-D Ida Chen Alexander P Reiner Caroline Hayward Ozren Polasek Ian J Deary Ingrid B Borecki Yongmei Liu Vilmundur Gudnason James G Wilson Cornelia M van Duijn Charles Kooperberg Stephen S Rich Bruce M Psaty Jerome I Rotter Christopher J O'Donnell Kenneth Rice Eric Boerwinkle Sekar Kathiresan L Adrienne Cupples

Am J Hum Genet 2014 Feb;94(2):223-32

Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA; National Heart, Lung, and Blood Institute (NHLBI) Framingham Heart Study, Framingham, MA 01702, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928662PMC
February 2014

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Arterioscler Thromb Vasc Biol 2013 Dec 26;33(12):2909-14. Epub 2013 Sep 26.

From the Cardiovascular Division, Department of Medicine (N.O.S.) and Division of Statistical Genomics (N.O.S.), Washington University School of Medicine, Saint Louis, MO; Department of Vascular Medicine (B.S., S.S., J.J.P.K., G.K.H.) Department of Experimental Vascular Medicine (S.W.F., J.C.D), and Radiology (A.J.N.), Academic Medical Center, Amsterdam, The Netherlands; Center for Human Genetic Research, Boston, MA (G.M.P., A.M.M., D.A., S.K.); Program in Medical and Population Genetics, Broad Institute, Cambridge, MA (G.M.P., A.M.M., D.A., S.K.); Fred Hutchinson Cancer Research Center, Seattle, WA (P.L.A., C.K.); Wellcome Trust Centre for Human Genetics (A.G., M.F., H.W.) and Cardiovascular Medicine, Radcliffe Department of Medicine (A.G., M.F., H.W.), University of Oxford, Oxford, United Kingdom; Division of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden (B.G., U.d.F.); Department of Cardiovascular Sciences, University of Leicester and Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester, United Kingdom (T.A.B., N.J.S.); Department of Clinical Sciences, Hypertension and Cardiovascular Diseases (O.M.) and Diabetes and Cardiovascular Disease Genetic Epidemiology (M.O.-M.), Skania University Hospital, Lund University, Malmö, Sweden; Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy (S.D.); Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada (M.N.); Department of Medicine, University of Verona, Verona, Italy (N.M., D.G.); Division of Endocrinology, Diabetes and Metabolism, Ohio State University, Columbus (R.D.J.); Departments of Epidemiology, Genetics and Biostatistics, Bioinformatics and Computational Biology, University of North Carolina, Chapel Hill (L.A.L.); Division of Cardiology, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy (D.A.); The John & Jennif

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/ATVBAHA.113.302426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4002172PMC
December 2013

Computational and statistical approaches to analyzing variants identified by exome sequencing.

Genome Biol 2011 Sep 14;12(9):227. Epub 2011 Sep 14.

Division of Cardiovascular Medicine, Brigham and Women’s Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://genomebiology.biomedcentral.com/articles/10.1186/gb-2
Publisher Site
http://dx.doi.org/10.1186/gb-2011-12-9-227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308043PMC
September 2011

Membrane-associated and secreted genes in breast cancer.

Cancer Res 2004 Dec;64(23):8682-7

Department of Bioengineering, University of Illinois at Chicago, Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://cancerres.aacrjournals.org/lookup/doi/10.1158/0008-54
Publisher Site
http://dx.doi.org/10.1158/0008-5472.CAN-04-1729DOI Listing
December 2004

topoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association.

Nucleic Acids Res 2004 Jan;32(Database issue):D520-2

Department of Bioengineering, University of Illinois at Chicago, M/C 063, 851 S. Morgan Street, Chicago, IL 60607, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
Publisher Site
http://dx.doi.org/10.1093/nar/gkh104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC308838PMC
January 2004

Structural location of disease-associated single-nucleotide polymorphisms.

J Mol Biol 2003 Apr;327(5):1021-30

Department of Bioengineering SEO, MC-063, University of Illinois at Chicago, Room 218, 851, S. Morgan Street, Chicago, IL 60607-7052, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0022-2836(03)00240-7DOI Listing
April 2003