Jonathan L Haines

Jonathan L Haines

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Jonathan L Haines

Jonathan L Haines

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100Publications

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Functional annotation of genomic variants in studies of late-onset Alzheimer's disease.

Bioinformatics 2018 Aug;34(16):2724-2731

Department of Population and Quantitative Health Sciences, Institute for Computational Biology, Case Western Reserve University, Cleveland, OH, USA.

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August 2018

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

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

Pedigree Selection and Information Content.

Curr Protoc Hum Genet 2018 Apr;97(1):e56

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

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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

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

The molecular genetics of eye diseases.

Hum Mol Genet 2017 08;26(R1):R1

Departments of Pediatrics and Ophthalmology & Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA, USA.

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August 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

A population-specific reference panel empowers genetic studies of Anabaptist populations.

Sci Rep 2017 Jul 20;7(1):6079. Epub 2017 Jul 20.

Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.

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July 2017

Introducing COCOS: codon consequence scanner for annotating reading frame changes induced by stop-lost and frame shift variants.

Bioinformatics 2017 May;33(10):1561-1562

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

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May 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

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

Hum Mol Genet 2017 01;26(2):438-453

Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.

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January 2017

Assay for Transposase-Accessible Chromatin Using Sequencing (ATAC-seq) Data Analysis.

Curr Protoc Hum Genet 2017 01 11;92:20.4.1-20.4.13. Epub 2017 Jan 11.

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

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January 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

Pathway analysis by randomization incorporating structure-PARIS: an update.

Bioinformatics 2016 08 7;32(15):2361-3. Epub 2016 Mar 7.

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

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August 2016

DRUG-DRUG INTERACTION PROFILES OF MEDICATION REGIMENS EXTRACTED FROM A DE-IDENTIFIED ELECTRONIC MEDICAL RECORDS SYSTEM.

AMIA Jt Summits Transl Sci Proc 2016 20;2016:33-40. Epub 2016 Jul 20.

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

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August 2016

Quality Control for the Illumina HumanExome BeadChip.

Curr Protoc Hum Genet 2016 07 1;90:2.14.1-2.14.16. Epub 2016 Jul 1.

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

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July 2016

Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies.

PLoS One 2015 10;10(6):e0127817. Epub 2015 Jun 10.

Department of Epidemiology & Biostatistics, Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, United States of America.

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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

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

Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits.

Hum Hered 2015 28;79(3-4):137-46. Epub 2015 Jul 28.

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

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April 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

Genetic Mapping.

Curr Protoc Hum Genet 2016 Apr 1;89:1.0.1-7. Epub 2016 Apr 1.

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April 2016

Genetic Association Analysis of Drusen Progression.

Invest Ophthalmol Vis Sci 2016 Apr;57(4):2225-31

Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States 8Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio, United States.

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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

Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis.

Exp Eye Res 2015 Oct 10;139:115-22. Epub 2015 Aug 10.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA. Electronic address:

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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

A common variant near TGFBR3 is associated with primary open angle glaucoma.

Authors:
Zheng Li R Rand Allingham Masakazu Nakano Liyun Jia Yuhong Chen Yoko Ikeda Baskaran Mani Li-Jia Chen Changwon Kee David F Garway-Heath Sarangapani Sripriya Nobuo Fuse Khaled K Abu-Amero Chukai Huang Prasanthi Namburi Kathryn Burdon Shamira A Perera Puya Gharahkhani Ying Lin Morio Ueno Mineo Ozaki Takanori Mizoguchi Subbiah Ramasamy Krishnadas Essam A Osman Mei Chin Lee Anita S Y Chan Liza-Sharmini A Tajudin Tan Do Aurelien Goncalves Pascal Reynier Hong Zhang Rupert Bourne David Goh David Broadway Rahat Husain Anil K Negi Daniel H Su Ching-Lin Ho Augusto Azuara Blanco Christopher K S Leung Tina T Wong Azhany Yakub Yutao Liu Monisha E Nongpiur Jong Chul Han Do Nhu Hon Balekudaru Shantha Bowen Zhao Jinghong Sang NiHong Zhang Ryuichi Sato Kengo Yoshii Songhomita Panda-Jonas Allison E Ashley Koch Leon W Herndon Sayoko E Moroi Pratap Challa Jia Nee Foo Jin-Xin Bei Yi-Xin Zeng Cameron P Simmons Tran Nguyen Bich Chau Philomenadin Ferdinamarie Sharmila Merwyn Chew Blanche Lim Pansy O S Tam Elaine Chua Xiao Yu Ng Victor H K Yong Yaan Fun Chong Wee Yang Meah Saravanan Vijayan Sohn Seongsoo Wang Xu Yik Ying Teo Jessica N Cooke Bailey Jae H Kang Jonathan L Haines Ching Yu Cheng Seang-Mei Saw E-Shyong Tai Julia E Richards Robert Ritch Douglas E Gaasterland Louis R Pasquale Jianjun Liu Jost B Jonas Dan Milea Ronnie George Saleh A Al-Obeidan Kazuhiko Mori Stuart Macgregor Alex W Hewitt Christopher A Girkin Mingzhi Zhang Periasamy Sundaresan Lingam Vijaya David A Mackey Tien Yin Wong Jamie E Craig Xinghuai Sun Shigeru Kinoshita Janey L Wiggs Chiea-Chuen Khor Zhenglin Yang Chi Pui Pang Ningli Wang Michael A Hauser Kei Tashiro Tin Aung Eranga N Vithana

Hum Mol Genet 2015 Jul 10;24(13):3880-92. Epub 2015 Apr 10.

Singapore Eye Research Institute, Department of Ophthalmology, Yong Loo Lin School of Medicine, Duke-NUS Graduate Medical School, Singapore, Singapore,

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July 2015

Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network.

Genet Epidemiol 2015 Jul 17;39(5):376-84. Epub 2015 May 17.

Department of Biochemistry and Molecular Biology, Center for Systems Genomics, Eberly College of Science, The Pennsylvania State University, University Park, Pennsylvania, United States of America.

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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

Rapidly progressive Alzheimer's disease features distinct structures of amyloid-β.

Brain 2015 Apr 15;138(Pt 4):1009-22. Epub 2015 Feb 15.

1 Department of Pathology, Case Western Reserve University School of Medicine, 2085 Adelbert Rd, Cleveland, OH 44106, USA 2 National Prion Disease Pathology Surveillance Centre, Case Western Reserve University School of Medicine, 2085 Adelbert Rd, Cleveland, OH 44106, USA 3 Department of Neurology, Case Western Reserve University School of Medicine, 2085 Adelbert Rd, Cleveland, OH 44106, USA

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April 2015

The intelligent use and clinical benefits of electronic medical records in multiple sclerosis.

Expert Rev Clin Immunol 2015 Feb 11;11(2):205-11. Epub 2014 Dec 11.

Brigham Young University, Microbiology and Molecular Biology, 4007 LSB, Provo, UT 84602, USA.

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February 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

Size matters: how population size influences genotype-phenotype association studies in anonymized data.

J Biomed Inform 2014 Dec 16;52:243-50. Epub 2014 Jul 16.

Department of Biomedical Informatics, School of Medicine, Vanderbilt University, 2525 West End Avenue, Suite 1030, Nashville, TN 37203, USA; Department of Electrical Engineering and Computer Science, School of Engineering, Vanderbilt University, 2525 West End Avenue, Suite 1030, Nashville, TN 37203, USA.

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December 2014

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

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Nat Genet 2014 Oct 31;46(10):1126-1130. Epub 2014 Aug 31.

Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

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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

Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study.

Invest Ophthalmol Vis Sci 2014 Sep 9;55(10):6839-50. Epub 2014 Sep 9.

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

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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

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Nat Commun 2014 Sep 22;5:4883. Epub 2014 Sep 22.

Department of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.

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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

eMERGEing progress in genomics-the first seven years.

Front Genet 2014 17;5:184. Epub 2014 Jun 17.

Department of Biochemistry and Molecular Biology, Pennsylvania State University University Park, PA, USA ; Center for Systems Genomics, Pennsylvania State University University Park, PA, 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

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:
Dalila Pinto Elsa Delaby Daniele Merico Mafalda Barbosa Alison Merikangas Lambertus Klei Bhooma Thiruvahindrapuram Xiao Xu Robert Ziman Zhuozhi Wang Jacob A S Vorstman Ann Thompson Regina Regan Marion Pilorge Giovanna Pellecchia Alistair T Pagnamenta Bárbara Oliveira Christian R Marshall Tiago R Magalhaes Jennifer K Lowe Jennifer L Howe Anthony J Griswold John Gilbert Eftichia Duketis Beth A Dombroski Maretha V De Jonge Michael Cuccaro Emily L Crawford Catarina T Correia Judith Conroy Inês C Conceição Andreas G Chiocchetti Jillian P Casey Guiqing Cai Christelle Cabrol Nadia Bolshakova Elena Bacchelli Richard Anney Steven Gallinger Michelle Cotterchio Graham Casey Lonnie Zwaigenbaum Kerstin Wittemeyer Kirsty Wing Simon Wallace Herman van Engeland Ana Tryfon Susanne Thomson Latha Soorya Bernadette Rogé Wendy Roberts Fritz Poustka Susana Mouga Nancy Minshew L Alison McInnes Susan G McGrew Catherine Lord Marion Leboyer Ann S Le Couteur Alexander Kolevzon Patricia Jiménez González Suma Jacob Richard Holt Stephen Guter Jonathan Green Andrew Green Christopher Gillberg Bridget A Fernandez Frederico Duque Richard Delorme Geraldine Dawson Pauline Chaste Cátia Café Sean Brennan Thomas Bourgeron Patrick F Bolton Sven Bölte Raphael Bernier Gillian Baird Anthony J Bailey Evdokia Anagnostou Joana Almeida Ellen M Wijsman Veronica J Vieland Astrid M Vicente Gerard D Schellenberg Margaret Pericak-Vance Andrew D Paterson Jeremy R Parr Guiomar Oliveira John I Nurnberger Anthony P Monaco Elena Maestrini Sabine M Klauck Hakon Hakonarson Jonathan L Haines Daniel H Geschwind Christine M Freitag Susan E Folstein Sean Ennis Hilary Coon Agatino Battaglia Peter Szatmari James S Sutcliffe Joachim Hallmayer Michael Gill Edwin H Cook Joseph D Buxbaum Bernie Devlin Louise Gallagher Catalina Betancur Stephen W Scherer

Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:

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May 2014

Genotype Correlation Analysis Reveals Pathway-Based Functional Disequilibrium and Potential Epistasis in the Human Interactome.

Appl Evol Comput (2014) 2014 Apr 29;8602:890-901. Epub 2014 Nov 29.

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

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April 2014