F Yesim Demirci

F Yesim Demirci

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F Yesim Demirci

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Population-based genome-wide association study of cognitive decline in older adults free of dementia: identification of a novel locus for the attention domain.

Neurobiol Aging 2019 Mar 11. Epub 2019 Mar 11.

Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA; Department of Neurology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA; Department of Psychiatry, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580193007
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http://dx.doi.org/10.1016/j.neurobiolaging.2019.02.024DOI Listing
March 2019

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

APOE gene polymorphism and risk of coronary stenosis in Pakistani population.

Biomed Res Int 2015 26;2015:587465. Epub 2015 Mar 26.

Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1155/2015/587465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391154PMC
January 2016

Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study.

BMC Med Genet 2015 Nov 12;16:106. Epub 2015 Nov 12.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA, 15261, USA.

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http://dx.doi.org/10.1186/s12881-015-0250-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643515PMC
November 2015

Genetic variation in imprinted genes is associated with risk of late-onset Alzheimer's disease.

J Alzheimers Dis 2015 ;44(3):989-94

Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA Alzheimer's Disease Research Center, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.3233/JAD-142106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324355PMC
October 2015

Resequencing of LPL in African Blacks and associations with lipoprotein-lipid levels.

Eur J Hum Genet 2015 Sep 28;23(9):1244-53. Epub 2015 Jan 28.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538195PMC
September 2015

Erratum to: Genetic link of type 1 diabetes susceptibility loci with rheumatoid arthritis in Pakistani patients.

Immunogenetics 2015 Aug;67(8):477

Atta ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Sector H-12, Islamabad, Pakistan.

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http://dx.doi.org/10.1007/s00251-015-0851-4DOI Listing
August 2015

More evidence for association of a rare TREM2 mutation (R47H) with Alzheimer's disease risk.

Neurobiol Aging 2015 Aug 25;36(8):2443.e21-6. Epub 2015 Apr 25.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465085PMC
August 2015

Genetic determinants of disease progression in Alzheimer's disease.

J Alzheimers Dis 2015 ;43(2):649-55

Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA Alzheimer's Disease Research Center, University of Pittsburgh, Pittsburgh, PA, USA Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.3233/JAD-140729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245313PMC
July 2015

A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease.

PLoS One 2014 7;9(11):e111462. Epub 2014 Nov 7.

Department of Biostatistics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0111462PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4224411PMC
July 2015

Genetic link of type 1 diabetes susceptibility loci with rheumatoid arthritis in Pakistani patients.

Immunogenetics 2015 Jun 24;67(5-6):277-82. Epub 2015 Apr 24.

Atta ur Rahman School of Applied Biosciences, National University of Sciences and Technology, Sector H-12, Islamabad, Pakistan.

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http://dx.doi.org/10.1007/s00251-015-0839-0DOI Listing
June 2015

Association of 32 type 1 diabetes risk loci in Pakistani patients.

Diabetes Res Clin Pract 2015 Apr 21;108(1):137-42. Epub 2015 Jan 21.

Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.diabres.2015.01.022DOI Listing
April 2015

Rarity of the Alzheimer disease-protective APP A673T variant in the United States.

Authors:
Li-San Wang Adam C Naj Robert R Graham Paul K Crane Brian W Kunkle Carlos Cruchaga Josue D Gonzalez Murcia Lisa Cannon-Albright Clinton T Baldwin Henrik Zetterberg Kaj Blennow Walter A Kukull Kelley M Faber Nicole Schupf Maria C Norton JoAnn T Tschanz Ronald G Munger Christopher D Corcoran Ekaterina Rogaeva Chiao-Feng Lin Beth A Dombroski Laura B Cantwell Amanda Partch Otto Valladares Hakon Hakonarson Peter St George-Hyslop Robert C Green Alison M Goate Tatiana M Foroud Regina M Carney Eric B Larson Timothy W Behrens John S K Kauwe Jonathan L Haines Lindsay A Farrer Margaret A Pericak-Vance Richard Mayeux Gerard D Schellenberg Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Michael Barmada Lisa L Barnes Thomas G Beach James T Becker Gary W Beecham Duane Beekly David A Bennett Eileen H Bigio Thomas D Bird Deborah Blacker Bradley F Boeve James D Bowen Adam Boxer James R Burke Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Steven L Carroll Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky F Yesim Demirci Malcolm Dick Dennis W Dickson Ranjan Duara Nilufer Ertekin-Taner Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass Neill R Graff-Radford John H Growdon Ronald L Hamilton Kara L Hamilton-Nelson Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gail P Jarvik Gregory A Jicha Lee-Way Jin Gyungah Jun Gyungah Jun M Ilyas Kamboh Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Gei Li Andrew P Lieberman Oscar L Lopez Kathryn L Lunetta Constantine G Lyketsos Wendy J Mack Daniel C Marson Eden R Martin Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee W Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Thomas J Montine John C Morris Jill R Murrell John M Olichney Joseph E Parisi William Perry Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Eric M Reiman Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Debby W Tsuang Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2015 Feb;72(2):209-16

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.

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http://dx.doi.org/10.1001/jamaneurol.2014.2157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4324097PMC
February 2015

Connecting the dots: potential of data integration to identify regulatory SNPs in late-onset Alzheimer's disease GWAS findings.

PLoS One 2014 17;9(4):e95152. Epub 2014 Apr 17.

Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America; Alzheimer's Disease Research Center, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0095152PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990600PMC
December 2014

Impact of genetic variants in human scavenger receptor class B type I (SCARB1) on plasma lipid traits.

Circ Cardiovasc Genet 2014 Dec 22;7(6):838-47. Epub 2014 Sep 22.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270916PMC
December 2014

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

Authors:
Adam C Naj Gyungah Jun Christiane Reitz Brian W Kunkle William Perry Yo Son Park Gary W Beecham Ruchita A Rajbhandary Kara L Hamilton-Nelson Li-San Wang John S K Kauwe Matthew J Huentelman Amanda J Myers Thomas D Bird Bradley F Boeve Clinton T Baldwin Gail P Jarvik Paul K Crane Ekaterina Rogaeva M Michael Barmada F Yesim Demirci Carlos Cruchaga Patricia L Kramer Nilufer Ertekin-Taner John Hardy Neill R Graff-Radford Robert C Green Eric B Larson Peter H St George-Hyslop Joseph D Buxbaum Denis A Evans Julie A Schneider Kathryn L Lunetta M Ilyas Kamboh Andrew J Saykin Eric M Reiman Philip L De Jager David A Bennett John C Morris Thomas J Montine Alison M Goate Deborah Blacker Debby W Tsuang Hakon Hakonarson Walter A Kukull Tatiana M Foroud Eden R Martin Jonathan L Haines Richard P Mayeux Lindsay A Farrer Gerard D Schellenberg Margaret A Pericak-Vance Marilyn S Albert Roger L Albin Liana G Apostolova Steven E Arnold Robert Barber Lisa L Barnes Thomas G Beach James T Becker Duane Beekly Eileen H Bigio James D Bowen Adam Boxer James R Burke Nigel J Cairns Laura B Cantwell Chuanhai Cao Chris S Carlson Regina M Carney Minerva M Carrasquillo Steven L Carroll Helena C Chui David G Clark Jason Corneveaux David H Cribbs Elizabeth A Crocco Charles DeCarli Steven T DeKosky Malcolm Dick Dennis W Dickson Ranjan Duara Kelley M Faber Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Jonathan D Glass John H Growdon Ronald L Hamilton Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gregory A Jicha Lee-Way Jin Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Chiao-Feng Lin Oscar L Lopez Constantine G Lyketsos Wendy J Mack Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Jill R Murrell John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson Elaine Peskind Ronald C Petersen Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg John M Ringman Erik D Roberson Howard J Rosen Roger N Rosenberg Mary Sano Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Otto Valladares Vivianna M Van Deerlin Linda J Van Eldik Badri N Vardarajan Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Sarah Wishnek Randall L Woltjer Clinton B Wright Steven G Younkin Chang-En Yu Lei Yu

JAMA Neurol 2014 Nov;71(11):1394-404

Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1001/jamaneurol.2014.1491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314944PMC
November 2014

Investigation of an amyloid precursor protein protective mutation (A673T) in a North American case-control sample of late-onset Alzheimer's disease.

Neurobiol Aging 2014 Jul 23;35(7):1779.e15-6. Epub 2014 Jan 23.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.01.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009010PMC
July 2014

Lipoprotein lipase gene sequencing and plasma lipid profile.

J Lipid Res 2014 Jan 9;55(1):85-93. Epub 2013 Nov 9.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA; and.

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http://www.jlr.org/content/55/1/85.full.pdf
Web Search
http://www.jlr.org/cgi/doi/10.1194/jlr.M043265
Publisher Site
http://dx.doi.org/10.1194/jlr.M043265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927465PMC
January 2014

Replication of European rheumatoid arthritis loci in a Pakistani population.

J Rheumatol 2013 Apr 1;40(4):401-7. Epub 2013 Feb 1.

Atta-Ur-Rahman School of Applied Biosciences (ASAB), National University of Science and Technology (NUST), Islamabad, Pakistan.

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http://dx.doi.org/10.3899/jrheum.121050DOI Listing
April 2013

Genome-wide association study of antiphospholipid antibodies.

Autoimmune Dis 2013 24;2013:761046. Epub 2013 Feb 24.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1155/2013/761046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3595708PMC
March 2013

Novel late-onset Alzheimer disease loci variants associate with brain gene expression.

Authors:
Mariet Allen Fanggeng Zou High Seng Chai Curtis S Younkin Julia Crook V Shane Pankratz Minerva M Carrasquillo Christopher N Rowley Asha A Nair Sumit Middha Sooraj Maharjan Thuy Nguyen Li Ma Kimberly G Malphrus Ryan Palusak Sarah Lincoln Gina Bisceglio Constantin Georgescu Debra Schultz Fariborz Rakhshan Christopher P Kolbert Jin Jen Jonathan L Haines Richard Mayeux Margaret A Pericak-Vance Lindsay A Farrer Gerard D Schellenberg Ronald C Petersen Neill R Graff-Radford Dennis W Dickson Steven G Younkin Nilüfer Ertekin-Taner Liana G Apostolova Steven E Arnold Clinton T Baldwin Robert Barber Michael M Barmada Thomas Beach Gary W Beecham Duane Beekly David A Bennett Eileen H Bigio Thomas D Bird Deborah Blacker Bradley F Boeve James D Bowen Adam Boxer James R Burke Jacqueline Buros Joseph D Buxbaum Nigel J Cairns Laura B Cantwell Chuanhai Cao Chris S Carlson Regina M Carney Steven L Carroll Helena C Chui David G Clark Jason Corneveaux Carl W Cotman Paul K Crane Carlos Cruchaga Jeffrey L Cummings Philip L De Jager Charles DeCarli Steven T DeKosky F Yesim Demirci Ramon Diaz-Arrastia Malcolm Dick Beth A Dombroski Ranjan Duara William D Ellis Denis Evans Kelley M Faber Kenneth B Fallon Martin R Farlow Steven Ferris Tatiana M Foroud Matthew Frosch Douglas R Galasko Paul J Gallins Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Sid Gilman Bruno Giordani Jonathan D Glass Alison M Goate Robert C Green John H Growdon Hakon Hakonarson Ronald L Hamilton John Hardy Lindy E Harrell Elizabeth Head Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Gregory A Jicha Lee-Way Jin Gyungah Jun M Ilyas Kamboh Jason Karlawish Anna Karydas John S K Kauwe Jeffrey A Kaye Nancy Kennedy Ronald Kim Edward H Koo Neil W Kowall Patricia Kramer Walter A Kukull James J Lah Eric B Larson Allan I Levey Andrew P Lieberman Oscar L Lopez Kathryn L Lunetta Wendy J Mack Daniel C Marson Eden R Martin Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Thomas J Montine John C Morris Amanda J Myers Adam C Naj Petra Nowotny Joseph E Parisi Daniel P Perl Elaine Peskind Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Ruchita A Rajbhandary Murray Raskind Eric M Reiman Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Roger N Rosenberg Mary Sano Andrew J Saykin Julie A Schneider Lon S Schneider William Seeley Michael L Shelanski Michael A Slifer Charles D Smith Joshua A Sonnen Salvatore Spina Peter St George-Hyslop Robert A Stern Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Debby W Tsuang Vivianna M Van Deerlin Badri Narayan Vardarajan Harry V Vinters Jean Paul Vonsattel Li-San Wang Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Randall L Woltjer

Neurology 2012 Jul 20;79(3):221-8. Epub 2012 Jun 20.

Department of Neuroscience, Biostatistics Unit, Mayo Clinic Florida, Jacksonville, FL, USA.

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http://dx.doi.org/10.1212/WNL.0b013e3182605801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398432PMC
July 2012

Association of CLU and PICALM variants with Alzheimer's disease.

Neurobiol Aging 2012 Mar 8;33(3):518-21. Epub 2010 Jun 8.

Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, United States.

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http://dx.doi.org/10.1016/j.neurobiolaging.2010.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3010357PMC
March 2012

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

Authors:
Adam C Naj Gyungah Jun Gary W Beecham Li-San Wang Badri Narayan Vardarajan Jacqueline Buros Paul J Gallins Joseph D Buxbaum Gail P Jarvik Paul K Crane Eric B Larson Thomas D Bird Bradley F Boeve Neill R Graff-Radford Philip L De Jager Denis Evans Julie A Schneider Minerva M Carrasquillo Nilufer Ertekin-Taner Steven G Younkin Carlos Cruchaga John S K Kauwe Petra Nowotny Patricia Kramer John Hardy Matthew J Huentelman Amanda J Myers Michael M Barmada F Yesim Demirci Clinton T Baldwin Robert C Green Ekaterina Rogaeva Peter St George-Hyslop Steven E Arnold Robert Barber Thomas Beach Eileen H Bigio James D Bowen Adam Boxer James R Burke Nigel J Cairns Chris S Carlson Regina M Carney Steven L Carroll Helena C Chui David G Clark Jason Corneveaux Carl W Cotman Jeffrey L Cummings Charles DeCarli Steven T DeKosky Ramon Diaz-Arrastia Malcolm Dick Dennis W Dickson William G Ellis Kelley M Faber Kenneth B Fallon Martin R Farlow Steven Ferris Matthew P Frosch Douglas R Galasko Mary Ganguli Marla Gearing Daniel H Geschwind Bernardino Ghetti John R Gilbert Sid Gilman Bruno Giordani Jonathan D Glass John H Growdon Ronald L Hamilton Lindy E Harrell Elizabeth Head Lawrence S Honig Christine M Hulette Bradley T Hyman Gregory A Jicha Lee-Way Jin Nancy Johnson Jason Karlawish Anna Karydas Jeffrey A Kaye Ronald Kim Edward H Koo Neil W Kowall James J Lah Allan I Levey Andrew P Lieberman Oscar L Lopez Wendy J Mack Daniel C Marson Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller Joseph E Parisi Daniel P Perl Elaine Peskind Ronald C Petersen Wayne W Poon Joseph F Quinn Ruchita A Rajbhandary Murray Raskind Barry Reisberg John M Ringman Erik D Roberson Roger N Rosenberg Mary Sano Lon S Schneider William Seeley Michael L Shelanski Michael A Slifer Charles D Smith Joshua A Sonnen Salvatore Spina Robert A Stern Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Jennifer Williamson Randall L Woltjer Laura B Cantwell Beth A Dombroski Duane Beekly Kathryn L Lunetta Eden R Martin M Ilyas Kamboh Andrew J Saykin Eric M Reiman David A Bennett John C Morris Thomas J Montine Alison M Goate Deborah Blacker Debby W Tsuang Hakon Hakonarson Walter A Kukull Tatiana M Foroud Jonathan L Haines Richard Mayeux Margaret A Pericak-Vance Lindsay A Farrer Gerard D Schellenberg

Nat Genet 2011 May 3;43(5):436-41. Epub 2011 Apr 3.

The John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.

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http://dx.doi.org/10.1038/ng.801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090745PMC
May 2011

Functional and genetic characterization of the promoter region of apolipoprotein H (beta2-glycoprotein I).

FEBS J 2010 Feb 18;277(4):951-63. Epub 2010 Jan 18.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1111/j.1742-4658.2009.07538.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860786PMC
February 2010

Association studies of 22 candidate SNPs with late-onset Alzheimer's disease.

Am J Med Genet B Neuropsychiatr Genet 2009 Jun;150B(4):520-6

Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1002/ajmg.b.30851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751631PMC
June 2009

No association between CALHM1 variation and risk of Alzheimer disease.

Hum Mutat 2009 Apr;30(4):E566-9

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1002/humu.20989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2810280PMC
April 2009

Functional significance of lipoprotein lipase HindIII polymorphism associated with the risk of coronary artery disease.

Atherosclerosis 2008 Sep 1;200(1):102-8. Epub 2008 Feb 1.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.

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http://dx.doi.org/10.1016/j.atherosclerosis.2007.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603421PMC
September 2008

Association study of Toll-like receptor 5 (TLR5) and Toll-like receptor 9 (TLR9) polymorphisms in systemic lupus erythematosus.

J Rheumatol 2007 Aug 15;34(8):1708-11. Epub 2007 May 15.

Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA.

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August 2007

Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).

Mol Vis 2006 Apr 10;12:324-30. Epub 2006 Apr 10.

Department of Ophthalmology, UPMC Eye Center, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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April 2006

A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.

Am J Ophthalmol 2006 Jan;141(1):208-10

Department of Ophthalmology, School of Medicine, University of Pittsburgh, 213 Lothrop Street, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.ajo.2005.07.077DOI Listing
January 2006

Is tamoxifen a risk factor for retinal vaso-occlusive disease?

Retina 2005 Jun;25(4):523-6

Department of Ophthalmology, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA.

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June 2005

Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.

Am J Ophthalmol 2005 Feb;139(2):386-8

Department of Ophthalmology, UPMC Eye Center, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.ajo.2004.08.041DOI Listing
February 2005

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.

Am J Ophthalmol 2004 Sep;138(3):504-5

Department of Ophthalmology, School of Medicine, 203 Lothrop Street, Room 1027, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.ajo.2004.04.019DOI Listing
September 2004

A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.

Am J Ophthalmol 2004 Jul;138(1):171-3

Department of Ophthalmology, School of Medicine, University of Pittsburgh, 203 Lothrop Street, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.ajo.2004.02.060DOI Listing
July 2004

Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4.

DNA Seq 2003 Apr;14(2):123-7

Department of Ophthalmology, School of Medicine, Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA 15213, USA.

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April 2003

Bilateral microphthalmos with colobomatous orbital cyst.

J Pediatr Ophthalmol Strabismus 2002 Mar-Apr;39(2):110-3

Department of Ophthalmology, Istanbul Faculty of Medicine, Istanbul University, Turkey.

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October 2002

X-linked recessive atrophic macular degeneration from RPGR mutation.

Genomics 2002 Aug;80(2):166-71

Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, 48105, USA.

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August 2002

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

Am J Hum Genet 2002 Apr 20;70(4):1049-53. Epub 2002 Feb 20.

Department of Ophthalmology, Eye and Ear Institute Building, University of Pittsburgh, 203 Lothrop Street, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1086/339620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379101PMC
April 2002