Eden R Martin

Eden R Martin

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Eden R Martin

Eden R Martin

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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors:
Joshua C Bis Xueqiu Jian Brian W Kunkle Yuning Chen Kara L Hamilton-Nelson William S Bush William J Salerno Daniel Lancour Yiyi Ma Alan E Renton Edoardo Marcora John J Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W Beecham Jennifer E Below Dominique Campion Camille Charbonnier Jaeyoon Chung Paul K Crane Carlos Cruchaga L Adrienne Cupples Jean-François Dartigues Stéphanie Debette Jean-François Deleuze Lucinda Fulton Stacey B Gabriel Emmanuelle Genin Richard A Gibbs Alison Goate Benjamin Grenier-Boley Namrata Gupta Jonathan L Haines Aki S Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P Howrigan M Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M Muzny Waleed Nasser Benjamin Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A Pericak-Vance Markus Perola Bruce M Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M Remes Veikko Salomaa Chloe Sarnowski Helena Schmidt Michael Schmidt Reinhold Schmidt Hilkka Soininen Timothy A Thornton Giuseppe Tosto Christophe Tzourio Sven J van der Lee Cornelia M van Duijn Badri Vardarajan Weixin Wang Ellen Wijsman Richard K Wilson Daniela Witten Kim C Worley Xiaoling Zhang Celine Bellenguez Jean-Charles Lambert Mitja I Kurki Aarno Palotie Mark Daly Eric Boerwinkle Kathryn L Lunetta Anita L Destefano Josée Dupuis Eden R Martin Gerard D Schellenberg Sudha Seshadri Adam C Naj Myriam Fornage Lindsay A Farrer

Mol Psychiatry 2018 Aug 14. Epub 2018 Aug 14.

Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

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August 2018

Single Marker Family-Based Association Analysis Conditional on Parental Information.

Methods Mol Biol 2017 ;1666:391-407

John P. Hussman Institute for Human Genomics, Leonard M. Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, M860-BRB 305, Miami, FL, 33136, USA.

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May 2018

Properties of global- and local-ancestry adjustments in genetic association tests in admixed populations.

Genet Epidemiol 2018 03 30;42(2):214-229. Epub 2017 Dec 30.

John P. Hussman Institute for Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.

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March 2018

Impact of human CA8 on thermal antinociception in relation to morphine equivalence in mice.

Neuroreport 2017 Dec;28(18):1215-1220

aDepartment of Anesthesiology, Perioperative Medicine and Pain Management bJohn P. Hussman Institute for Human Genomics cJohn T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida dCenter for Pharmacogenetics and Individualized Therapy, University of North Caroline, Eshelman School of Pharmacy, Chapel Hill eDepartment of Anesthesiology, Duke University School of Medicine, Durham, North Carolina, USA.

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December 2017

Genome-Wide Association Study of Male Sexual Orientation.

Sci Rep 2017 Dec 7;7(1):16950. Epub 2017 Dec 7.

Department of Human Genetics, University of Miami, Miami, Florida, 33136, United States of America.

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December 2017

Car8 dorsal root ganglion expression and genetic regulation of analgesic responses are associated with a cis-eQTL in mice.

Mamm Genome 2017 Oct 25;28(9-10):407-415. Epub 2017 May 25.

Department of Pharmacology and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC, USA.

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October 2017

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Authors:
Rebecca Sims Sven J van der Lee Adam C Naj Céline Bellenguez Nandini Badarinarayan Johanna Jakobsdottir Brian W Kunkle Anne Boland Rachel Raybould Joshua C Bis Eden R Martin Benjamin Grenier-Boley Stefanie Heilmann-Heimbach Vincent Chouraki Amanda B Kuzma Kristel Sleegers Maria Vronskaya Agustin Ruiz Robert R Graham Robert Olaso Per Hoffmann Megan L Grove Badri N Vardarajan Mikko Hiltunen Markus M Nöthen Charles C White Kara L Hamilton-Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W Beecham Cécile Dulary Stefan Herms Albert V Smith Cory C Funk Céline Derbois Andreas J Forstner Shahzad Ahmad Hongdong Li Delphine Bacq Denise Harold Claudia L Satizabal Otto Valladares Alessio Squassina Rhodri Thomas Jennifer A Brody Liming Qu Pascual Sánchez-Juan Taniesha Morgan Frank J Wolters Yi Zhao Florentino Sanchez Garcia Nicola Denning Myriam Fornage John Malamon Maria Candida Deniz Naranjo Elisa Majounie Thomas H Mosley Beth Dombroski David Wallon Michelle K Lupton Josée Dupuis Patrice Whitehead Laura Fratiglioni Christopher Medway Xueqiu Jian Shubhabrata Mukherjee Lina Keller Kristelle Brown Honghuang Lin Laura B Cantwell Francesco Panza Bernadette McGuinness Sonia Moreno-Grau Jeremy D Burgess Vincenzo Solfrizzi Petra Proitsi Hieab H Adams Mariet Allen Davide Seripa Pau Pastor L Adrienne Cupples Nathan D Price Didier Hannequin Ana Frank-García Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S Beiser Vilmantas Giedraitis Harald Hampel Melissa E Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K Crane Florence Pasquier Virginia Boccardi Isabel Henández Robert C Barber Martin Scherer Lluis Tarraga Perrie M Adams Markus Leber Yuning Chen Marilyn S Albert Steffi Riedel-Heller Valur Emilsson Duane Beekly Anne Braae Reinhold Schmidt Deborah Blacker Carlo Masullo Helena Schmidt Rachelle S Doody Gianfranco Spalletta W T Longstreth Thomas J Fairchild Paola Bossù Oscar L Lopez Matthew P Frosch Eleonora Sacchinelli Bernardino Ghetti Qiong Yang Ryan M Huebinger Frank Jessen Shuo Li M Ilyas Kamboh John Morris Oscar Sotolongo-Grau Mindy J Katz Chris Corcoran Melanie Dunstan Amy Braddel Charlene Thomas Alun Meggy Rachel Marshall Amy Gerrish Jade Chapman Miquel Aguilar Sarah Taylor Matt Hill Mònica Díez Fairén Angela Hodges Bruno Vellas Hilkka Soininen Iwona Kloszewska Makrina Daniilidou James Uphill Yogen Patel Joseph T Hughes Jenny Lord James Turton Annette M Hartmann Roberta Cecchetti Chiara Fenoglio Maria Serpente Marina Arcaro Carlo Caltagirone Maria Donata Orfei Antonio Ciaramella Sabrina Pichler Manuel Mayhaus Wei Gu Alberto Lleó Juan Fortea Rafael Blesa Imelda S Barber Keeley Brookes Chiara Cupidi Raffaele Giovanni Maletta David Carrell Sandro Sorbi Susanne Moebus Maria Urbano Alberto Pilotto Johannes Kornhuber Paolo Bosco Stephen Todd David Craig Janet Johnston Michael Gill Brian Lawlor Aoibhinn Lynch Nick C Fox John Hardy Roger L Albin Liana G Apostolova Steven E Arnold Sanjay Asthana Craig S Atwood Clinton T Baldwin Lisa L Barnes Sandra Barral Thomas G Beach James T Becker Eileen H Bigio Thomas D Bird Bradley F Boeve James D Bowen Adam Boxer James R Burke Jeffrey M Burns Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Cynthia M Carlsson Regina M Carney Minerva M Carrasquillo Steven L Carroll Carolina Ceballos Diaz Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Malcolm Dick Ranjan Duara Denis A Evans Kelley M Faber Kenneth B Fallon David W Fardo Martin R Farlow Steven Ferris Tatiana M Foroud Douglas R Galasko Marla Gearing Daniel H Geschwind John R Gilbert Neill R Graff-Radford Robert C Green John H Growdon Ronald L Hamilton Lindy E Harrell Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Erin Abner Lee-Way Jin Gyungah Jun Anna Karydas Jeffrey A Kaye Ronald Kim Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Kathryn L Lunetta Constantine G Lyketsos 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 John C Morris Jill R Murrell Amanda J Myers Sid O'Bryant John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson William Perry Elaine Peskind Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Howard J Rosen Roger N Rosenberg Mark A Sager Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Fabienne Garzia Feroze Golamaully Gislain Septier Sebastien Engelborghs Rik Vandenberghe Peter P De Deyn Carmen Muñoz Fernadez Yoland Aladro Benito Hakan Thonberg Charlotte Forsell Lena Lilius Anne Kinhult-Stählbom Lena Kilander RoseMarie Brundin Letizia Concari Seppo Helisalmi Anne Maria Koivisto Annakaisa Haapasalo Vincent Dermecourt Nathalie Fievet Olivier Hanon Carole Dufouil Alexis Brice Karen Ritchie Bruno Dubois Jayanadra J Himali C Dirk Keene JoAnn Tschanz Annette L Fitzpatrick Walter A Kukull Maria Norton Thor Aspelund Eric B Larson Ron Munger Jerome I Rotter Richard B Lipton María J Bullido Albert Hofman Thomas J Montine Eliecer Coto Eric Boerwinkle Ronald C Petersen Victoria Alvarez Fernando Rivadeneira Eric M Reiman Maura Gallo Christopher J O'Donnell Joan S Reisch Amalia Cecilia Bruni Donald R Royall Martin Dichgans Mary Sano Daniela Galimberti Peter St George-Hyslop Elio Scarpini Debby W Tsuang Michelangelo Mancuso Ubaldo Bonuccelli Ashley R Winslow Antonio Daniele Chuang-Kuo Wu Oliver Peters Benedetta Nacmias Matthias Riemenschneider Reinhard Heun Carol Brayne David C Rubinsztein Jose Bras Rita Guerreiro Ammar Al-Chalabi Christopher E Shaw John Collinge David Mann Magda Tsolaki Jordi Clarimón Rebecca Sussams Simon Lovestone Michael C O'Donovan Michael J Owen Timothy W Behrens Simon Mead Alison M Goate Andre G Uitterlinden Clive Holmes Carlos Cruchaga Martin Ingelsson David A Bennett John Powell Todd E Golde Caroline Graff Philip L De Jager Kevin Morgan Nilufer Ertekin-Taner Onofre Combarros Bruce M Psaty Peter Passmore Steven G Younkin Claudine Berr Vilmundur Gudnason Dan Rujescu Dennis W Dickson Jean-François Dartigues Anita L DeStefano Sara Ortega-Cubero Hakon Hakonarson Dominique Campion Merce Boada John Keoni Kauwe Lindsay A Farrer Christine Van Broeckhoven M Arfan Ikram Lesley Jones Jonathan L Haines Christophe Tzourio Lenore J Launer Valentina Escott-Price Richard Mayeux Jean-François Deleuze Najaf Amin Peter A Holmans Margaret A Pericak-Vance Philippe Amouyel Cornelia M van Duijn Alfredo Ramirez Li-San Wang Jean-Charles Lambert Sudha Seshadri Julie Williams Gerard D Schellenberg

Nat Genet 2017 09 17;49(9):1373-1384. Epub 2017 Jul 17.

Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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September 2017

Evidence that Dry Eye Represents a Chronic Overlapping Pain Condition.

Mol Pain 2017 Jan-Dec;13:1744806917729306

John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 7John T. Macdonald Foundation.

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August 2017

Transethnic genome-wide scan identifies novel Alzheimer's disease loci.

Alzheimers Dement 2017 Jul 7;13(7):727-738. Epub 2017 Feb 7.

Department of Medicine (Biomedical Genetics), Boston University Schools of Medicine, Boston, MA, USA; Department of Neurology, Boston University Schools of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University Schools of Public Health, Boston, MA, USA; Department of Ophthalmology, Boston University Schools of Medicine, Boston, MA, USA; Department of Epidemiology, Boston University Schools of Public Health, Boston, MA, USA. Electronic address:

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July 2017

Dopaminergic variants in siblings at high risk for autism: Associations with initiating joint attention.

Autism Res 2016 Nov 15;9(11):1142-1150. Epub 2016 Mar 15.

University of Miami Miller School of Medicine and Hussman Institute for Human Genomics, Florida.

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November 2016

Incomplete response to artificial tears is associated with features of neuropathic ocular pain.

Br J Ophthalmol 2016 06 16;100(6):745-9. Epub 2015 Sep 16.

Department of Ophthalmology, Miami Veterans Administration Medical Center, Miami, Florida, USA Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida, USA John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

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June 2016

DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient.

Neurol Genet 2016 Jun 12;2(3):e72. Epub 2016 Apr 12.

John P. Hussman Institute for Human Genomics (L.W., L.M., G.W.B., E.R.M., M.A.P.-V., J.M.V., W.K.S.), and Dr. John T. Macdonald Foundation Department of Human Genetics (L.W., G.W.B., E.R.M., M.A.P.-V., J.M.V., W.K.S.), Miller School of Medicine, University of Miami, FL; Departments of Neurology (M.L.E.), and Pathology (J.C.R.), Emory University, Atlanta, GA; Department of Epidemiology and Biostatistics and Institute for Computational Biology (J.L.H.), Case Western Reserve University, Cleveland, OH; Veterans Affairs Puget Sound Health Care System and Department of Neurology (C.P.Z.), University of Washington, Seattle, WA; and Department of Neurology (H.P.), University of Alabama at Birmingham, AL.

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June 2016

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

Neurol Genet 2016 Jun 17;2(3):e79. Epub 2016 May 17.

John P. Hussman Institute for Human Genomics (H.N.C., B.W.K., S.R., K.L.H.-N., M.A.K., P.L.W., D.V.B., D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., J.M.V., M.A.P.-V.), Dr. John T. Macdonald Foundation Department of Human Genetics (D.M.D., M.L.C., J.M.V., J.R.G., G.W.B., E.R.M., R.M.C.), Miller School of Medicine, University of Miami, FL; The Taub Institute for Research on Alzheimer's Disease and the Aging Brain (B.N.V., R.M.), Gertrude H. Sergievsky Center, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians and Surgeons, Columbia University, New York, NY; Department of Pathology and Laboratory Medicine (B.A.D., G.D.S.), University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Department of Biology (R.L., G.S.B., M.A.P.-V.), North Carolina A&T State University, Greensboro, NC; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, MA; and Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH.

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June 2016

Neuropathic Ocular Pain due to Dry Eye is Associated with Multiple Comorbid Chronic Pain Syndromes.

J Pain 2016 Mar 1;17(3):310-8. Epub 2015 Dec 1.

Miami Veterans Administration Medical Center, Miami, Florida; Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida; John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida. Electronic address:

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March 2016

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.

Neurol Genet 2016 Feb 14;2(1):e41. Epub 2016 Jan 14.

John P. Hussman Institute for Human Genomics (M.A.K., H.N.C., K.L.H.-N., S.R., B.W.K., P.L.W., S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., R.M.C., M.A.P.-V.), Department of Neurology (H.N.C., S.L.Z., J.M.V., M.A.P.-V.), and Dr. John T. Macdonald Foundation Department of Human Genetics (S.L.Z., E.R.M., G.W.B., J.M.V., M.L.C., J.R.G., M.A.P.-V.), University of Miami, Miller School of Medicine, Miami, FL; Departments of Medicine, Neurology, Ophthalmology, Genetics & Genomics, Epidemiology, and Biostatistics (L.A.F.), Boston University, Boston, MA; Department of Epidemiology and Biostatistics (J.L.H.), Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH; and Department of Pathology and Laboratory Medicine (G.D.S.), University of Pennsylvania School of Medicine, Philadelphia, PA.

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February 2016

Carbonic anhydrase-8 regulates inflammatory pain by inhibiting the ITPR1-cytosolic free calcium pathway.

PLoS One 2015 3;10(3):e0118273. Epub 2015 Mar 3.

Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida, United States of America; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America; John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America; Bruce W. Carter Miami Veterans Healthcare System, Miami, Florida, United States of America.

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January 2016

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.

Alzheimers Dement 2016 Jan 11;12(1):2-10. Epub 2015 Sep 11.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

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January 2016

Family-based association test using both common and rare variants and accounting for directions of effects for sequencing data.

PLoS One 2014 22;9(9):e107800. Epub 2014 Sep 22.

Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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December 2015

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Authors:
Valentina Escott-Price Céline Bellenguez Li-San Wang Seung-Hoan Choi Denise Harold Lesley Jones Peter Holmans Amy Gerrish Alexey Vedernikov Alexander Richards Anita L DeStefano Jean-Charles Lambert Carla A Ibrahim-Verbaas Adam C Naj Rebecca Sims Gyungah Jun Joshua C Bis Gary W Beecham Benjamin Grenier-Boley Giancarlo Russo Tricia A Thornton-Wells Nicola Denning Albert V Smith Vincent Chouraki Charlene Thomas M Arfan Ikram Diana Zelenika Badri N Vardarajan Yoichiro Kamatani Chiao-Feng Lin Helena Schmidt Brian Kunkle Melanie L Dunstan Maria Vronskaya Andrew D Johnson Agustin Ruiz Marie-Thérèse Bihoreau Christiane Reitz Florence Pasquier Paul Hollingworth Olivier Hanon Annette L Fitzpatrick Joseph D Buxbaum Dominique Campion Paul K Crane Clinton Baldwin Tim Becker Vilmundur Gudnason Carlos Cruchaga David Craig Najaf Amin Claudine Berr Oscar L Lopez Philip L De Jager Vincent Deramecourt Janet A Johnston Denis Evans Simon Lovestone Luc Letenneur Isabel Hernández David C Rubinsztein Gudny Eiriksdottir Kristel Sleegers Alison M Goate Nathalie Fiévet Matthew J Huentelman Michael Gill Kristelle Brown M Ilyas Kamboh Lina Keller Pascale Barberger-Gateau Bernadette McGuinness Eric B Larson Amanda J Myers Carole Dufouil Stephen Todd David Wallon Seth Love Ekaterina Rogaeva John Gallacher Peter St George-Hyslop Jordi Clarimon Alberto Lleo Anthony Bayer Debby W Tsuang Lei Yu Magda Tsolaki Paola Bossù Gianfranco Spalletta Petra Proitsi John Collinge Sandro Sorbi Florentino Sanchez Garcia Nick C Fox John Hardy Maria Candida Deniz Naranjo Paolo Bosco Robert Clarke Carol Brayne Daniela Galimberti Elio Scarpini Ubaldo Bonuccelli Michelangelo Mancuso Gabriele Siciliano Susanne Moebus Patrizia Mecocci Maria Del Zompo Wolfgang Maier Harald Hampel Alberto Pilotto Ana Frank-García Francesco Panza Vincenzo Solfrizzi Paolo Caffarra Benedetta Nacmias William Perry Manuel Mayhaus Lars Lannfelt Hakon Hakonarson Sabrina Pichler Minerva M Carrasquillo Martin Ingelsson Duane Beekly Victoria Alvarez Fanggeng Zou Otto Valladares Steven G Younkin Eliecer Coto Kara L Hamilton-Nelson Wei Gu Cristina Razquin Pau Pastor Ignacio Mateo Michael J Owen Kelley M Faber Palmi V Jonsson Onofre Combarros Michael C O'Donovan Laura B Cantwell Hilkka Soininen Deborah Blacker Simon Mead Thomas H Mosley David A Bennett Tamara B Harris Laura Fratiglioni Clive Holmes Renee F A G de Bruijn Peter Passmore Thomas J Montine Karolien Bettens Jerome I Rotter Alexis Brice Kevin Morgan Tatiana M Foroud Walter A Kukull Didier Hannequin John F Powell Michael A Nalls Karen Ritchie Kathryn L Lunetta John S K Kauwe Eric Boerwinkle Matthias Riemenschneider Mercè Boada Mikko Hiltunen Eden R Martin Reinhold Schmidt Dan Rujescu Jean-François Dartigues Richard Mayeux Christophe Tzourio Albert Hofman Markus M Nöthen Caroline Graff Bruce M Psaty Jonathan L Haines Mark Lathrop Margaret A Pericak-Vance Lenore J Launer Christine Van Broeckhoven Lindsay A Farrer Cornelia M van Duijn Alfredo Ramirez Sudha Seshadri Gerard D Schellenberg Philippe Amouyel Julie Williams

PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.

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October 2015

Dry eye symptoms align more closely to non-ocular conditions than to tear film parameters.

Br J Ophthalmol 2015 Aug 20;99(8):1126-9. Epub 2015 Feb 20.

Department of Ophthalmology, Miami Veterans Administration Medical Center, Miami, Florida, USA John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA Ophthalmology Department, Washington University School of Medicine, St. Louis, Missouri, USA Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida, USA.

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August 2015

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.

Mol Autism 2015 7;6:43. Epub 2015 Jul 7.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA ; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136 USA.

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July 2015

Dry eye symptom severity and persistence are associated with symptoms of neuropathic pain.

Br J Ophthalmol 2015 May 21;99(5):665-8. Epub 2014 Oct 21.

Miami Veterans Administration Medical Center, Miami, Florida, USA John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA Department of Anesthesiology, Perioperative Medicine and Pain Management, University of Miami Miller School of Medicine, Miami, Florida, USA.

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May 2015

Vitamin D from different sources is inversely associated with Parkinson disease.

Mov Disord 2015 Apr 27;30(4):560-6. Epub 2014 Dec 27.

John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida, USA.

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April 2015

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.

Neurology 2015 Mar 6;84(10):972-80. Epub 2015 Feb 6.

From the John P. Hussman Institute for Human Genomics (G.W.B., W.K.S., E.R.M., K.N., L.W., D.M.D., M.A.P.-V., J.M.V.) and University of Miami Brain Endowment Bank (D.C.M.), Miller School of Medicine, University of Miami, FL; Departments of Neuroscience (D.W.D., O.A.R.) and Neurology (Z.K.W.), Mayo Clinic Florida, Jacksonville; Department of Pathology & Laboratory Medicine (G.S., J.Q.T., V.M.V.D., H.I.H.), Perelman School of Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania, Philadelphia; Group Health Research Institute (E.B.L.), Seattle, WA; Departments of Psychiatry, and Genetics and Genomic Sciences (J.D.B.), Mount Sinai School of Medicine, New York, NY; Arizona Alzheimer's Consortium (T.G.B.), Phoenix; Sun Health Research Institute (T.G.B.), Sun City, AZ; Division of Neuropathology, Department of Pathology (J.C.T., O.P.), and Department of Neurology and the Solomon H. Snyder Department of Neuroscience (T.M.D.), Johns Hopkins University School of Medicine, Baltimore, MD; Kubik Laboratory for Neuropathology (M.P.F.), Massachusetts General Hospital and Harvard Medical School, Charlestown, MA; Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center (B.G.), and Department of Medical and Molecular Genetics (T.M.F.), Indiana University School of Medicine, Indianapolis; Departments of Neurology (L.S.H., K.M.) and Psychiatry (K.M.), Gertrude H. Sergievsky Center, and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York; Department of Pathology and Cell Biology (J.P.V.), Taub Institute for Research on Alzheimer's Disease and the Aging Brain, New York, NY; The Parkinson's Institute (S.M.G.), Sunnyvale, CA; Departments of Pathology and Laboratory Medicine (Neuropathology) and Neurology (H.V.V.), David Geffen School of Medicine at University of California Los Angeles; Department of Pathology (T.J.M.), University of Washington School of Medicine, Seattle; VA Puget Sound Health Care System (

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March 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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February 2015

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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November 2014

Detecting genetic interactions in pathway-based genome-wide association studies.

Genet Epidemiol 2014 May 9;38(4):300-9. Epub 2014 Apr 9.

Department of Electrical and Computer Engineering, University of Miami, Coral Gables, Florida, United States of America.

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May 2014

Valid Monte Carlo permutation tests for genetic case-control studies with missing genotypes.

Genet Epidemiol 2014 May 10;38(4):325-44. Epub 2014 Apr 10.

Division of Human Genetics, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States of America; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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May 2014

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

Ann Hum Genet 2013 Sep 12;77(5):351-63. Epub 2013 Jul 12.

University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics, Biomedical Research building, 1501 NW 10th Ave, Miami, FL, 33136, USA.

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September 2013

Pathway-PDT: a flexible pathway analysis tool for nuclear families.

BMC Bioinformatics 2013 Sep 4;14:267. Epub 2013 Sep 4.

Division of Biostatistics and Bioinformatics, Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Miaoli, Taiwan.

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September 2013

High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2.

Hum Mutat 2013 Aug 28;34(8):1071-4. Epub 2013 May 28.

John P Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.

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August 2013

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.

Neurology 2013 Mar 13;80(11):982-9. Epub 2013 Feb 13.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, FL, USA.

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March 2013

Vitamin D receptor and Alzheimer's disease: a genetic and functional study.

Neurobiol Aging 2012 Aug 4;33(8):1844.e1-9. Epub 2012 Feb 4.

Hussman Institute for Human Genomics, University of Miami Miller School of Medicine 1501 NW 10 Ave, Miami, Florida, USA.

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August 2012

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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July 2012

Reconsidering association testing methods using single-variant test statistics as alternatives to pooling tests for sequence data with rare variants.

PLoS One 2012 17;7(2):e30238. Epub 2012 Feb 17.

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.

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June 2012

Single-marker family-based association analysis conditional on parental information.

Methods Mol Biol 2012 ;850:359-70

John P. Hussman Institute for Human Genomics, Leonard M. Miller School of Medicine, University of Miami, Miami, FL, USA.

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May 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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May 2011

CAPL: an efficient association software package using family and case-control data and accounting for population stratification.

BMC Bioinformatics 2011 May 25;12:201. Epub 2011 May 25.

Center for Genetic Epidemiology and Statistical Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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May 2011

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform.

PLoS One 2011 Apr 29;6(4):e18595. Epub 2011 Apr 29.

John T. MacDonald Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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April 2011

Vitamin D receptor gene as a candidate gene for Parkinson disease.

Ann Hum Genet 2011 Mar;75(2):201-10

Department of Pediatrics, Duke University Medical Center, Duke University School of Medicine, Durham, NC, USA.

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March 2011

Family-based genetic association tests.

Cold Spring Harb Protoc 2011 Feb 1;2011(2):pdb.top96. Epub 2011 Feb 1.

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February 2011

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach.

PLoS One 2011 Feb 22;6(2):e16917. Epub 2011 Feb 22.

John P Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America.

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February 2011

CAPL: a novel association test using case-control and family data and accounting for population stratification.

Genet Epidemiol 2010 Nov;34(7):747-55

Center for Genetic Epidemiology and Statistical Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida 33101, USA.

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November 2010

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.

Hum Mutat 2010 Oct;31(10):E1767-71

University of Miami, Miller School of Medicine, John P. Hussman Institute for Human Genomics Miami, FL 33136, USA.

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October 2010

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

PLoS Genet 2010 Sep 23;6(9):e1001130. Epub 2010 Sep 23.

Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America.

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September 2010

APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation.

Ann Hum Genet 2010 May;74(3):189-94

John P Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida 33136, USA.

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May 2010

Common susceptibility variants examined for association with dilated cardiomyopathy.

Ann Hum Genet 2010 Mar 18;74(2):110-6. Epub 2010 Feb 18.

Hussman Institute for Human Genomics, Department of Human Genetics, University of Miami, Miami, FL, USA.

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March 2010

A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.

Neurogenetics 2010 Feb 30;11(1):53-71. Epub 2009 Jun 30.

The Miami Project to Cure Paralysis, Miller School of Medicine, University of Miami, Lois Pope LIFE Center, Room 4-16, 1095 NW 14th Terrace, Miami, FL 33136, USA.

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February 2010

A cross-validation procedure for general pedigrees and matched odds ratio fitness metric implemented for the multifactor dimensionality reduction pedigree disequilibrium test.

Genet Epidemiol 2010 Feb;34(2):194-9

Center for Genetic Epidemiology and Statistical Genetics, Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Florida, USA.

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February 2010

A general framework for formal tests of interaction after exhaustive search methods with applications to MDR and MDR-PDT.

PLoS One 2010 Feb 23;5(2):e9363. Epub 2010 Feb 23.

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine, Nashville, Tennessee, United States of America.

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February 2010

Two-stage study designs for analyzing disease-associated covariates: linkage thresholds and case-selection strategies.

BMC Proc 2007 18;1 Suppl 1:S138. Epub 2007 Dec 18.

Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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December 2009

Using allele sharing distance for detecting human population stratification.

Hum Hered 2009 11;68(3):182-91. Epub 2009 Jun 11.

Division of Statistical Genomics, Washington University School of Medicine, St Louis, MO 63108, USA.

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September 2009

An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

Am J Med Genet B Neuropsychiatr Genet 2009 Jul;150B(5):721-35

Department of Molecular Physiology and Biophysics and Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee 37232, USA.

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July 2009

Resolving the relationship between ApolipoproteinE and depression.

Neurosci Lett 2009 May 6;455(2):116-9. Epub 2009 Mar 6.

Miami Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.

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May 2009

Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18.

Am J Hum Genet 2009 Apr 26;84(4):499-504. Epub 2009 Mar 26.

Dr. John T. Macdonald Foundation, Department of Human Genetics and Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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April 2009

Association test for X-linked QTL in family-based designs.

Am J Hum Genet 2009 Apr 2;84(4):431-44. Epub 2009 Apr 2.

Bioinformatics Research Center, North Carolina State University, Raleigh, NC 27606, USA.

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April 2009

Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.

Hum Mutat 2009 Mar;30(3):463-71

Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232, USA.

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March 2009

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.

Am J Hum Genet 2009 Jan;84(1):35-43

Miami Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33101, USA.

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January 2009

Ordered-subset analysis (OSA) for family-based association mapping of complex traits.

Genet Epidemiol 2008 Nov;32(7):627-37

Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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November 2008

Nitric oxide synthase genes and their interactions with environmental factors in Parkinson's disease.

Neurogenetics 2008 Oct 29;9(4):249-62. Epub 2008 Jul 29.

University Program in Genetics and Genomics, Duke University, Durham, NC 27710, USA.

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October 2008

Disease associations and family-based tests.

Curr Protoc Hum Genet 2008 Jul;Chapter 1:Unit 1.12

University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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July 2008

A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphisms.

Genet Epidemiol 2008 May;32(4):361-9

Center for Genetic Epidemiology and Statistical Genetics, Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.

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May 2008

X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design.

Genet Epidemiol 2008 May;32(4):370-80

Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, USA.

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May 2008

Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

Genet Epidemiol 2008 Apr;32(3):187-203

Biobehavioral Intervention Training Program, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University Institute for Imaging Science, Vanderbilt University, Nashville, Tennessee 37203, USA.

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April 2008

Pesticide exposure and risk of Parkinson's disease: a family-based case-control study.

BMC Neurol 2008 Mar 28;8. Epub 2008 Mar 28.

Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.

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March 2008

Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.

Am J Hum Genet 2008 Feb 31;82(2):283-9. Epub 2008 Jan 31.

Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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February 2008

Increased efficiency of case-control association analysis by using allele-sharing and covariate information.

Hum Hered 2008 12;65(3):154-65. Epub 2007 Oct 12.

Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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January 2008

Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equations.

Genet Epidemiol 2007 Dec;31(8):883-93

Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.

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December 2007

Interpreting analyses of continuous covariates in affected sibling pair linkage studies.

Genet Epidemiol 2007 Sep;31(6):541-52

Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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September 2007

Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.

Psychiatr Genet 2007 Aug;17(4):221-6

Center for Human Genetics, Department of Medicine, Duke University Medical Center, Snyderman Genomic Sciences Building, Durham, NC 27710, USA.

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August 2007

Smoking, caffeine, and nonsteroidal anti-inflammatory drugs in families with Parkinson disease.

Arch Neurol 2007 Apr;64(4):576-80

Center for Human Genetics and Department of Medicine, Duke University Medical Center, Durham, NC, USA.

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April 2007

No gene is an island: the flip-flop phenomenon.

Am J Hum Genet 2007 Mar 22;80(3):531-8. Epub 2007 Jan 22.

Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.

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March 2007

X-APL: an improved family-based test of association in the presence of linkage for the X chromosome.

Am J Hum Genet 2007 Jan 28;80(1):59-68. Epub 2006 Nov 28.

Bioinformatics Research Center, North Carolina State University, Raleigh, NC, USA.

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January 2007

Disease associations and family-based tests.

Curr Protoc Hum Genet 2003 Nov;Chapter 1:Unit 1.12

University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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November 2003