Margaret A Pericak-Vance

Margaret A Pericak-Vance

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Margaret A Pericak-Vance

Margaret A Pericak-Vance

Publications by authors named "Margaret A Pericak-Vance"

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100Publications

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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

Transcriptomic analysis of synovial extracellular RNA following knee trauma: A pilot study.

J Orthop Res 2018 Jun 28;36(6):1659-1665. Epub 2017 Nov 28.

UHealth Sports Medicine Institute, Miller School of Medicine, University of Miami, Miami, Florida.

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June 2018

One for all and all for One: Improving replication of genetic studies through network diffusion.

PLoS Genet 2018 04 23;14(4):e1007306. Epub 2018 Apr 23.

Bioinformatics Graduate Program, Boston University, Boston, Massachusetts, United States of America.

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April 2018

Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.

Neurogenetics 2018 Jan 18;19(1):17-26. Epub 2017 Nov 18.

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

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January 2018

Variants in chondroitin sulfate metabolism genes in thrombotic storm.

Thromb Res 2018 01 21;161:43-51. Epub 2017 Nov 21.

University of Miami, John P. Hussman Institute for Human Genomics, Miller School of Medicine, Biomedical Research Building, 1501 NW 10th Ave, Miami, FL 33136, United States. Electronic address:

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January 2018

ASSOCIATION OF DRUSEN VOLUME WITH CHOROIDAL PARAMETERS IN NONNEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

Retina 2017 Oct;37(10):1880-1887

*Doheny Image Reading Center, Doheny Eye Institute, Los Angeles, California; †Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, California; ‡First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China; §Department of Epidemiology & Biostatistics, Case Western Reserve University, Cleveland, Ohio; ¶John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida; and **Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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October 2017

Coronary collateralization shows sex and racial-ethnic differences in obstructive artery disease patients.

PLoS One 2017 10;12(10):e0183836. Epub 2017 Oct 10.

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

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October 2017

The Alzheimer's Disease Sequencing Project: Study design and sample selection.

Neurol Genet 2017 Oct 13;3(5):e194. Epub 2017 Oct 13.

John P. Hussman Institute for Human Genomics (G.W.B., E.R.M., M.A.P.-V.) and Dr. John T. Macdonald Foundation Department of Human Genetics (G.W.B., E.R.M., M.A.P.-V.), Miller School of Medicine, University of Miami, FL; Cardiovascular Health Research Unit (J.C.B.), Department of Medicine, Cardiovascular Health Research Unit (B.M.P.), Departments of Medicine, Epidemiology, Health Services, Department of Biostatistics (E.W.), and Division of Medical Genetics (E.W.), Department of Medicine, University of Washington, Seattle; Department of Biostatistics (S.-H.C., A.D., L.A.F.), Boston University School of Public Health, MA; The Framingham Heart Study (A.D., S.S.), MA; Department of Neurology (A.D., L.A.F., S.S.), Boston University School of Medicine, MA; Department of Epidemiology (C.M.v.D), Erasmus MC, Rotterdam, Netherlands; Brown Foundation Institute of Molecular Medicine (M.F.) and Human Genetics Center (M.F.), University of Texas Health Science Center, Houston; The Eli and Edythe L. Broad Institute of Massachusetts Institute of Technology (S.B.G.), Cambridge; Harvard University (S.B.G.), Cambridge, MA; The McDonnell Genome Institute (D.C.K., D.E.L.) and Department of Genetics (D.E.L.), Washington University, St. Louis, MO; Department of Biostatistics and Epidemiology (A.C.N.) and Perelman School of Medicine (G.S.), University of Pennsylvania, Philadelphia; Group Health Research Institute (B.M.P.), Group Health Cooperative, Seattle, WA; Human Genome Sequencing Center (W.S., E.B.), Baylor College of Medicine, Houston, TX; Department of Epidemiology and Biostatistics (W.S.B., J.L.H.), Case Western Reserve University, Cleveland, OH; Department of Medical and Molecular Genetics (T.M.F.), Indiana University School of Medicine, Indianapolis; Department of Medicine (Biomedical Genetics) (L.A.F.), Department of Ophthalmology (L.A.F.), and Department of Epidemiology (L.A.F.), Boston University School of Medicine and Public Health, MA; Department of Neuroscience (A.G.), Icahn School of Medicine at Mount Sinai, New York, NY; Human Genetics Center (E.B.), UT Health School of Public Health, Houston, TX; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (R.M.) and Gertrude H. Sergievsky Center (R.M.), Columbia University Medical Center, New York, NY; Department of Neurology (R.M.), Columbia University Medical Center and New York Presbyterian Hospital, NY; and Department of Epidemiology (R.M.), Mailman School of Public Health, Columbia University, New York, NY.

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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

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.

Invest Ophthalmol Vis Sci 2017 08;58(10):4027-4038

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

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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

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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July 2017

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.

Alzheimers Dement 2017 02 20;13(2):119-129. Epub 2016 Oct 20.

Department of Neurology, Boston University School of Medicine, Boston, MA, USA; Alzheimer's Disease and CTE Center, Boston University School of Medicine, Boston, MA, USA; Department of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA; Department of Ophthalmology, Boston University School of Medicine, Boston, MA, USA; Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA.

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February 2017

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample.

Menopause 2017 02;24(2):150-156

1Department of Ophthalmology, Massachusetts Eye and Ear Infirmary 2Channing Division of Network Medicine, Brigham and Women's Hospital 3Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard Medical School, Boston, MA 4Department of Epidemiology and Biostatistics 5Institute of Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH 6Division of Preventive Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 7Department of Ophthalmology 8Department of Medicine, Duke University, Duke University Medical Center, Durham, NC 9Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 10Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 11Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 12Department of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA 13Departments of Ophthalmology and Anatomy/Cell Biology, University of Iowa, College of Medicine, Iowa City, IO 14Department of Ophthalmology, University of North Carolina, Chapel Hill, NC 15Department of Ophthalmology, WVU Eye Institute, Morgantown, WV 16Scripps Genome Center, University of California at San Diego, San Diego, CA 17Emmes Corporation, Chevy Chase, MD 18Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 19Department of Ophthalmology, Stanford University, Palo Alto, CA 20Department of Ophthalmology, Mayo Clinic, Rochester, MN 21Wills Eye Institute, Philadelphia, PA 22Einhorn Clinical Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, NY 23Department of Ophthalmology, Case Western Reserve University School of Medicine, Cleveland, OH 24Department of Ophthalmology & Visual Sciences, University of Nebraska Medical Center, Omaha, NE 25Department of Genetics; Stanford University, Palo Alto, CA 26Wilmer Eye Institute, Johns Hopkins University Hospital, Baltimore, MD 27Department of Ophthalmology, Hamilton Eye Center; University of California at San Diego, San Diego, CA 28Department of Cellular Biology & Anatomy, Augusta University, Augusta, GA.

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February 2017

Heritability of Choroidal Thickness in the Amish.

Ophthalmology 2016 12 19;123(12):2537-2544. Epub 2016 Oct 19.

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

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December 2016

mutations in early- and late-onset Alzheimer disease.

Neurol Genet 2016 Dec 26;2(6):e116. Epub 2016 Oct 26.

John P. Hussman Institute for Human Genomics (M.L.C., R.M.C., B.W.K., P.L.W., H.N.C., M.A.P.-V.), University of Miami Miller School of Medicine, FL; Mental Health & Behavioral Science Service (R.M.C.), Bruce W. Carter VA Medical Center, 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; Tanz Centre for Research in Neurodegenerative Diseases and Department of Medicine (Y.Z., C.B., P.S.G.-H.), University of Toronto, Ontario, Canada; Cambridge Institute for Medical Research (P.S.G.-H.), Department of Clinical Neurosciences, University of Cambridge, United Kingdom; and Dr. John T. Macdonald Foundation Department of Human Genetics (M.L.C., M.A.P.-V.), Miller School of Medicine, University of Miami, FL.

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December 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

Assessment of the genetic variance of late-onset Alzheimer's disease.

Neurobiol Aging 2016 May 3;41:200.e13-200.e20. Epub 2016 Mar 3.

Department of Biology, Brigham Young University, Provo, UT, USA. Electronic address:

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May 2016

The Relationship Between Reticular Pseudodrusen and Severity of AMD.

Ophthalmology 2016 Apr 8;123(4):921-3. Epub 2015 Dec 8.

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

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April 2016

The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review.

J Clin Med 2016 Mar 4;5(3). Epub 2016 Mar 4.

Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA.

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March 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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February 2016

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Nat Genet 2016 Feb 11;48(2):189-94. Epub 2016 Jan 11.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.

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February 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

Examination of candidate exonic variants for association to Alzheimer disease in the Amish.

PLoS One 2015 10;10(2):e0118043. Epub 2015 Feb 10.

Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN 37232, United States of America; Department of Epidemiology & Biostatistics and Institute for Computational Biology, Case Western Reserve University, Cleveland, OH 44106, 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

Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease.

Alzheimers Dement 2015 Dec 1;11(12):1397-1406. Epub 2015 Oct 1.

Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA; Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA; Department of Neurology, Columbia University Medical Center and New York Presbyterian Hospital, New York, NY, USA; Department of Epidemiology, School of Public Health, Columbia University, New York, NY, USA. Electronic address:

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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

Integrated whole transcriptome and DNA methylation analysis identifies gene networks specific to late-onset Alzheimer's disease.

J Alzheimers Dis 2015 ;44(3):977-87

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

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October 2015

Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.

BMC Bioinformatics 2015 Oct 14;16:329. Epub 2015 Oct 14.

Institute for Computational Biology, Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA.

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October 2015

hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells.

Mol Cell Neurosci 2015 Sep 16;68:244-57. Epub 2015 Aug 16.

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

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September 2015

Alzheimer disease (AD) specific transcription, DNA methylation and splicing in twenty AD associated loci.

Mol Cell Neurosci 2015 Jul 21;67:37-45. Epub 2015 May 21.

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

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July 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

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

Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.

Circ Cardiovasc Genet 2014 Dec 1;7(6):848-53. Epub 2014 Nov 1.

From the Institute for Computational Biology (D.C.C., P.M., J.L.H.), Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH (D.C.C., J.L.H.); Center for Human Genetics Research (L.D., R.G., K.B.-G., J.B., B.M., M.A., N.S.-B.), Department of Molecular Physiology and Biophysics (L.D.), Vanderbilt Technologies for Advanced Genomics Core Facility, Vanderbilt University, Nashville, TN (C.S., R.W., P.B., H.H.D.); Hussman Institute for Human Genomics, University of Miami, FL (M.A.P.-V., W.K.S.); and Division of Endocrinology, Diabetes, and Nutrition, Department of Medicine, University of Maryland School of Medicine, Baltimore (T.I.P.).

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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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November 2014

KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers.

PLoS One 2013 12;8(12):e82194. Epub 2013 Dec 12.

Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States of America.

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October 2014

Analysis of genetic linkage data for Mendelian traits.

Curr Protoc Hum Genet 2014 Oct 1;83:1.4.1-31. Epub 2014 Oct 1.

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

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October 2014

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation.

Ann Neurol 2014 Sep 29;76(3):379-92. Epub 2014 Jul 29.

Departments of Medicine, Boston University School of Medicine, Boston, MA; Ophthalmology, Boston University School of Medicine, Boston, MA; Department of Biostatistics, Boston University School of Public Health, Boston, MA.

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September 2014

Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration.

Cold Spring Harb Perspect Med 2014 Sep 11;4(12):a017186. Epub 2014 Sep 11.

Department of Epidemiology and Biostatistics, Case Western Reserve University Medical Center, Cleveland, Ohio 44106.

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September 2014

Relationship between depressive symptoms and cognition in older, non-demented African Americans.

J Int Neuropsychol Soc 2014 Aug 19;20(7):756-63. Epub 2014 May 19.

1Taub Institute for Research on Alzheimer's Disease and the Aging Brain,College of Physicians and Surgeons,Columbia University,New York,New York.

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August 2014

Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.

Adv Exp Med Biol 2014 ;801:165-70

Bascom Palmer Eye Institute, University of Miami, 900 NW 17th St, 33136, Miami, FL, USA,

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July 2014

Knock-down DHDDS expression induces photoreceptor degeneration in zebrafish.

Adv Exp Med Biol 2014 ;801:543-50

Bascom Palmer Eye Institute, University of Miami, 506 McKnight Building, 1638 NW 10th Ave, 33136, Miami, FL, USA,

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July 2014

Set-based joint test of interaction between SNPs in the VEGF pathway and exogenous estrogen finds association with age-related macular degeneration.

Invest Ophthalmol Vis Sci 2014 Jul 11. Epub 2014 Jul 11.

Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, 1501 NW 10 Ave., Biomedical Research Building (BRB) # 414, Miami, Florida, 33136, United States

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July 2014

The impact of the human genome project on complex disease.

Genes (Basel) 2014 Jul 16;5(3):518-35. Epub 2014 Jul 16.

Department of Epidemiology and Biostatistics, Case Western Reserve University Medical Center, Cleveland, OH 44106, USA.

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July 2014

Rare complement factor H variant associated with age-related macular degeneration in the Amish.

Invest Ophthalmol Vis Sci 2014 Jun 6;55(7):4455-60. Epub 2014 Jun 6.

Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, Tennessee, United States Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States.

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June 2014

Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation.

Alzheimers Dement 2014 May 30;10(3):360-5. Epub 2013 May 30.

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

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May 2014

Evaluating power and type 1 error in large pedigree analyses of binary traits.

PLoS One 2013 3;8(5):e62615. Epub 2013 May 3.

Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America.

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November 2013

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Authors:
Ashley H Beecham Nikolaos A Patsopoulos Dionysia K Xifara Mary F Davis Anu Kemppinen Chris Cotsapas Tejas S Shah Chris Spencer David Booth An Goris Annette Oturai Janna Saarela Bertrand Fontaine Bernhard Hemmer Claes Martin Frauke Zipp Sandra D'Alfonso Filippo Martinelli-Boneschi Bruce Taylor Hanne F Harbo Ingrid Kockum Jan Hillert Tomas Olsson Maria Ban Jorge R Oksenberg Rogier Hintzen Lisa F Barcellos Cristina Agliardi Lars Alfredsson Mehdi Alizadeh Carl Anderson Robert Andrews Helle Bach Søndergaard Amie Baker Gavin Band Sergio E Baranzini Nadia Barizzone Jeffrey Barrett Céline Bellenguez Laura Bergamaschi Luisa Bernardinelli Achim Berthele Viola Biberacher Thomas M C Binder Hannah Blackburn Izaura L Bomfim Paola Brambilla Simon Broadley Bruno Brochet Lou Brundin Dorothea Buck Helmut Butzkueven Stacy J Caillier William Camu Wassila Carpentier Paola Cavalla Elisabeth G Celius Irène Coman Giancarlo Comi Lucia Corrado Leentje Cosemans Isabelle Cournu-Rebeix Bruce A C Cree Daniele Cusi Vincent Damotte Gilles Defer Silvia R Delgado Panos Deloukas Alessia di Sapio Alexander T Dilthey Peter Donnelly Bénédicte Dubois Martin Duddy Sarah Edkins Irina Elovaara Federica Esposito Nikos Evangelou Barnaby Fiddes Judith Field Andre Franke Colin Freeman Irene Y Frohlich Daniela Galimberti Christian Gieger Pierre-Antoine Gourraud Christiane Graetz Andrew Graham Verena Grummel Clara Guaschino Athena Hadjixenofontos Hakon Hakonarson Christopher Halfpenny Gillian Hall Per Hall Anders Hamsten James Harley Timothy Harrower Clive Hawkins Garrett Hellenthal Charles Hillier Jeremy Hobart Muni Hoshi Sarah E Hunt Maja Jagodic Ilijas Jelčić Angela Jochim Brian Kendall Allan Kermode Trevor Kilpatrick Keijo Koivisto Ioanna Konidari Thomas Korn Helena Kronsbein Cordelia Langford Malin Larsson Mark Lathrop Christine Lebrun-Frenay Jeannette Lechner-Scott Michelle H Lee Maurizio A Leone Virpi Leppä Giuseppe Liberatore Benedicte A Lie Christina M Lill Magdalena Lindén Jenny Link Felix Luessi Jan Lycke Fabio Macciardi Satu Männistö Clara P Manrique Roland Martin Vittorio Martinelli Deborah Mason Gordon Mazibrada Cristin McCabe Inger-Lise Mero Julia Mescheriakova Loukas Moutsianas Kjell-Morten Myhr Guy Nagels Richard Nicholas Petra Nilsson Fredrik Piehl Matti Pirinen Siân E Price Hong Quach Mauri Reunanen Wim Robberecht Neil P Robertson Mariaemma Rodegher David Rog Marco Salvetti Nathalie C Schnetz-Boutaud Finn Sellebjerg Rebecca C Selter Catherine Schaefer Sandip Shaunak Ling Shen Simon Shields Volker Siffrin Mark Slee Per Soelberg Sorensen Melissa Sorosina Mireia Sospedra Anne Spurkland Amy Strange Emilie Sundqvist Vincent Thijs John Thorpe Anna Ticca Pentti Tienari Cornelia van Duijn Elizabeth M Visser Steve Vucic Helga Westerlind James S Wiley Alastair Wilkins James F Wilson Juliane Winkelmann John Zajicek Eva Zindler Jonathan L Haines Margaret A Pericak-Vance Adrian J Ivinson Graeme Stewart David Hafler Stephen L Hauser Alastair Compston Gil McVean Philip De Jager Stephen J Sawcer Jacob L McCauley

Nat Genet 2013 Nov 29;45(11):1353-60. Epub 2013 Sep 29.

1] John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA. [2].

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November 2013

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

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Authors:
S Hong Lee Stephan Ripke Benjamin M Neale Stephen V Faraone Shaun M Purcell Roy H Perlis Bryan J Mowry Anita Thapar Michael E Goddard John S Witte Devin Absher Ingrid Agartz Huda Akil Farooq Amin Ole A Andreassen Adebayo Anjorin Richard Anney Verneri Anttila Dan E Arking Philip Asherson Maria H Azevedo Lena Backlund Judith A Badner Anthony J Bailey Tobias Banaschewski Jack D Barchas Michael R Barnes Thomas B Barrett Nicholas Bass Agatino Battaglia Michael Bauer Mònica Bayés Frank Bellivier Sarah E Bergen Wade Berrettini Catalina Betancur Thomas Bettecken Joseph Biederman Elisabeth B Binder Donald W Black Douglas H R Blackwood Cinnamon S Bloss Michael Boehnke Dorret I Boomsma Gerome Breen René Breuer Richard Bruggeman Paul Cormican Nancy G Buccola Jan K Buitelaar William E Bunney Joseph D Buxbaum William F Byerley Enda M Byrne Sian Caesar Wiepke Cahn Rita M Cantor Miguel Casas Aravinda Chakravarti Kimberly Chambert Khalid Choudhury Sven Cichon C Robert Cloninger David A Collier Edwin H Cook Hilary Coon Bru Cormand Aiden Corvin William H Coryell David W Craig Ian W Craig Jennifer Crosbie Michael L Cuccaro David Curtis Darina Czamara Susmita Datta Geraldine Dawson Richard Day Eco J De Geus Franziska Degenhardt Srdjan Djurovic Gary J Donohoe Alysa E Doyle Jubao Duan Frank Dudbridge Eftichia Duketis Richard P Ebstein Howard J Edenberg Josephine Elia Sean Ennis Bruno Etain Ayman Fanous Anne E Farmer I Nicol Ferrier Matthew Flickinger Eric Fombonne Tatiana Foroud Josef Frank Barbara Franke Christine Fraser Robert Freedman Nelson B Freimer Christine M Freitag Marion Friedl Louise Frisén Louise Gallagher Pablo V Gejman Lyudmila Georgieva Elliot S Gershon Daniel H Geschwind Ina Giegling Michael Gill Scott D Gordon Katherine Gordon-Smith Elaine K Green Tiffany A Greenwood Dorothy E Grice Magdalena Gross Detelina Grozeva Weihua Guan Hugh Gurling Lieuwe De Haan Jonathan L Haines Hakon Hakonarson Joachim Hallmayer Steven P Hamilton Marian L Hamshere Thomas F Hansen Annette M Hartmann Martin Hautzinger Andrew C Heath Anjali K Henders Stefan Herms Ian B Hickie Maria Hipolito Susanne Hoefels Peter A Holmans Florian Holsboer Witte J Hoogendijk Jouke-Jan Hottenga Christina M Hultman Vanessa Hus Andrés Ingason Marcus Ising Stéphane Jamain Edward G Jones Ian Jones Lisa Jones Jung-Ying Tzeng Anna K Kähler René S Kahn Radhika Kandaswamy Matthew C Keller James L Kennedy Elaine Kenny Lindsey Kent Yunjung Kim George K Kirov Sabine M Klauck Lambertus Klei James A Knowles Martin A Kohli Daniel L Koller Bettina Konte Ania Korszun Lydia Krabbendam Robert Krasucki Jonna Kuntsi Phoenix Kwan Mikael Landén Niklas Långström Mark Lathrop Jacob Lawrence William B Lawson Marion Leboyer David H Ledbetter Phil H Lee Todd Lencz Klaus-Peter Lesch Douglas F Levinson Cathryn M Lewis Jun Li Paul Lichtenstein Jeffrey A Lieberman Dan-Yu Lin Don H Linszen Chunyu Liu Falk W Lohoff Sandra K Loo Catherine Lord Jennifer K Lowe Susanne Lucae Donald J MacIntyre Pamela A F Madden Elena Maestrini Patrik K E Magnusson Pamela B Mahon Wolfgang Maier Anil K Malhotra Shrikant M Mane Christa L Martin Nicholas G Martin Manuel Mattheisen Keith Matthews Morten Mattingsdal Steven A McCarroll Kevin A McGhee James J McGough Patrick J McGrath Peter McGuffin Melvin G McInnis Andrew McIntosh Rebecca McKinney Alan W McLean Francis J McMahon William M McMahon Andrew McQuillin Helena Medeiros Sarah E Medland Sandra Meier Ingrid Melle Fan Meng Jobst Meyer Christel M Middeldorp Lefkos Middleton Vihra Milanova Ana Miranda Anthony P Monaco Grant W Montgomery Jennifer L Moran Daniel Moreno-De-Luca Gunnar Morken Derek W Morris Eric M Morrow Valentina Moskvina Pierandrea Muglia Thomas W Mühleisen Walter J Muir Bertram Müller-Myhsok Michael Murtha Richard M Myers Inez Myin-Germeys Michael C Neale Stan F Nelson Caroline M Nievergelt Ivan Nikolov Vishwajit Nimgaonkar Willem A Nolen Markus M Nöthen John I Nurnberger Evaristus A Nwulia Dale R Nyholt Colm O'Dushlaine Robert D Oades Ann Olincy Guiomar Oliveira Line Olsen Roel A Ophoff Urban Osby Michael J Owen Aarno Palotie Jeremy R Parr Andrew D Paterson Carlos N Pato Michele T Pato Brenda W Penninx Michele L Pergadia Margaret A Pericak-Vance Benjamin S Pickard Jonathan Pimm Joseph Piven Danielle Posthuma James B Potash Fritz Poustka Peter Propping Vinay Puri Digby J Quested Emma M Quinn Josep Antoni Ramos-Quiroga Henrik B Rasmussen Soumya Raychaudhuri Karola Rehnström Andreas Reif Marta Ribasés John P Rice Marcella Rietschel Kathryn Roeder Herbert Roeyers Lizzy Rossin Aribert Rothenberger Guy Rouleau Douglas Ruderfer Dan Rujescu Alan R Sanders Stephan J Sanders Susan L Santangelo Joseph A Sergeant Russell Schachar Martin Schalling Alan F Schatzberg William A Scheftner Gerard D Schellenberg Stephen W Scherer Nicholas J Schork Thomas G Schulze Johannes Schumacher Markus Schwarz Edward Scolnick Laura J Scott Jianxin Shi Paul D Shilling Stanley I Shyn Jeremy M Silverman Susan L Slager Susan L Smalley Johannes H Smit Erin N Smith Edmund J S Sonuga-Barke David St Clair Matthew State Michael Steffens Hans-Christoph Steinhausen John S Strauss Jana Strohmaier T Scott Stroup James S Sutcliffe Peter Szatmari Szabocls Szelinger Srinivasa Thirumalai Robert C Thompson Alexandre A Todorov Federica Tozzi Jens Treutlein Manfred Uhr Edwin J C G van den Oord Gerard Van Grootheest Jim Van Os Astrid M Vicente Veronica J Vieland John B Vincent Peter M Visscher Christopher A Walsh Thomas H Wassink Stanley J Watson Myrna M Weissman Thomas Werge Thomas F Wienker Ellen M Wijsman Gonneke Willemsen Nigel Williams A Jeremy Willsey Stephanie H Witt Wei Xu Allan H Young Timothy W Yu Stanley Zammit Peter P Zandi Peng Zhang Frans G Zitman Sebastian Zöllner Bernie Devlin John R Kelsoe Pamela Sklar Mark J Daly Michael C O'Donovan Nicholas Craddock Patrick F Sullivan Jordan W Smoller Kenneth S Kendler Naomi R Wray

Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.

The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia.

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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

Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina.

Exp Eye Res 2013 Jul 3;112:102-5. Epub 2013 May 3.

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

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July 2013

Seven new loci associated with age-related macular degeneration.

Authors:
Lars G Fritsche Wei Chen Matthew Schu Brian L Yaspan Yi Yu Gudmar Thorleifsson Donald J Zack Satoshi Arakawa Valentina Cipriani Stephan Ripke Robert P Igo Gabriëlle H S Buitendijk Xueling Sim Daniel E Weeks Robyn H Guymer Joanna E Merriam Peter J Francis Gregory Hannum Anita Agarwal Ana Maria Armbrecht Isabelle Audo Tin Aung Gaetano R Barile Mustapha Benchaboune Alan C Bird Paul N Bishop Kari E Branham Matthew Brooks Alexander J Brucker William H Cade Melinda S Cain Peter A Campochiaro Chi-Chao Chan Ching-Yu Cheng Emily Y Chew Kimberly A Chin Itay Chowers David G Clayton Radu Cojocaru Yvette P Conley Belinda K Cornes Mark J Daly Baljean Dhillon Albert O Edwards Evangelos Evangelou Jesen Fagerness Henry A Ferreyra James S Friedman Asbjorg Geirsdottir Ronnie J George Christian Gieger Neel Gupta Stephanie A Hagstrom Simon P Harding Christos Haritoglou John R Heckenlively Frank G Holz Guy Hughes John P A Ioannidis Tatsuro Ishibashi Peronne Joseph Gyungah Jun Yoichiro Kamatani Nicholas Katsanis Claudia N Keilhauer Jane C Khan Ivana K Kim Yutaka Kiyohara Barbara E K Klein Ronald Klein Jaclyn L Kovach Igor Kozak Clara J Lee Kristine E Lee Peter Lichtner Andrew J Lotery Thomas Meitinger Paul Mitchell Saddek Mohand-Saïd Anthony T Moore Denise J Morgan Margaux A Morrison Chelsea E Myers Adam C Naj Yusuke Nakamura Yukinori Okada Anton Orlin M Carolina Ortube Mohammad I Othman Chris Pappas Kyu Hyung Park Gayle J T Pauer Neal S Peachey Olivier Poch Rinki Ratna Priya Robyn Reynolds Andrea J Richardson Raymond Ripp Guenther Rudolph Euijung Ryu José-Alain Sahel Debra A Schaumberg Hendrik P N Scholl Stephen G Schwartz William K Scott Humma Shahid Haraldur Sigurdsson Giuliana Silvestri Theru A Sivakumaran R Theodore Smith Lucia Sobrin Eric H Souied Dwight E Stambolian Hreinn Stefansson Gwen M Sturgill-Short Atsushi Takahashi Nirubol Tosakulwong Barbara J Truitt Evangelia E Tsironi André G Uitterlinden Cornelia M van Duijn Lingam Vijaya Johannes R Vingerling Eranga N Vithana Andrew R Webster H-Erich Wichmann Thomas W Winkler Tien Y Wong Alan F Wright Diana Zelenika Ming Zhang Ling Zhao Kang Zhang Michael L Klein Gregory S Hageman G Mark Lathrop Kari Stefansson Rando Allikmets Paul N Baird Michael B Gorin Jie Jin Wang Caroline C W Klaver Johanna M Seddon Margaret A Pericak-Vance Sudha K Iyengar John R W Yates Anand Swaroop Bernhard H F Weber Michiaki Kubo Margaret M Deangelis Thierry Léveillard Unnur Thorsteinsdottir Jonathan L Haines Lindsay A Farrer Iris M Heid Gonçalo R Abecasis

Nat Genet 2013 Apr 3;45(4):433-9, 439e1-2. Epub 2013 Mar 3.

Institute of Human Genetics, University of Regensburg, Regensburg, Germany.

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April 2013