Publications by authors named "Giuliana Silvestri"

49Publications

Comparison of the Morphology of the Foveal Pit Between African and Caucasian Populations.

Transl Vis Sci Technol 2020 Apr 28;9(5):24. Epub 2020 Apr 28.

Steele Center for Translational Medicine, John A. Moran Eye Center, Department of Ophthalmology & Visual Sciences, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1167/tvst.9.5.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7401974PMC
April 2020

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.

Genes (Basel) 2017 Nov 3;8(11). Epub 2017 Nov 3.

The School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland.

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http://dx.doi.org/10.3390/genes8110304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704217PMC
November 2017

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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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Retinal microvascular network attenuation in Alzheimer's disease.

Alzheimers Dement (Amst) 2015 Jun 16;1(2):229-235. Epub 2015 May 16.

Centre for Public Health, Queen's University Belfast, Belfast, UK.

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http://dx.doi.org/10.1016/j.dadm.2015.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4629099PMC
June 2015

Alterations in Circulating Immune Cells in Neovascular Age-Related Macular Degeneration.

Sci Rep 2015 Nov 17;5:16754. Epub 2015 Nov 17.

Centre for Experimental Medicine, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.

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http://dx.doi.org/10.1038/srep16754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4648089PMC
November 2015

Age-Related Macular Degeneration-Associated Genes in Alzheimer Disease.

Am J Geriatr Psychiatry 2015 Dec 24;23(12):1290-1296. Epub 2015 Jun 24.

Centre for Public Health, Queen's University of Belfast, UK.

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http://dx.doi.org/10.1016/j.jagp.2015.06.005DOI Listing
December 2015

Plasma Complement factor H in Alzheimer's Disease.

J Alzheimers Dis 2015 ;45(2):369-72

Queen's University of Belfast, Centre for Experimental Medicine, Institute of Clinical Science A, Queen's University of Belfast, Grosvenor Road, Belfast, UK.

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http://dx.doi.org/10.3233/JAD-142742DOI Listing
January 2016

Retinal vascular caliber, iris color, and age-related macular degeneration in the Irish Nun Eye Study.

Invest Ophthalmol Vis Sci 2014 Dec 18;56(1):382-7. Epub 2014 Dec 18.

Centre for Public Health, Queen's University Belfast, Belfast, Northern Ireland.

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http://dx.doi.org/10.1167/iovs.14-15523DOI Listing
December 2014

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa.

Ophthalmic Genet 2015 ;36(3):239-43

a Department of Ophthalmology , Belfast Health and Social Care Trust, Royal Victoria Hospital , Belfast , Northern Ireland , UK .

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http://dx.doi.org/10.3109/13816810.2014.958862DOI Listing
April 2016

The prevalence of age-related macular degeneration in Alzheimer's disease.

J Alzheimers Dis 2014 ;42(3):909-14

Queen's University of Belfast, Centre for Experimental Medicine, Institute of Clinical Science A, Queen's University of Belfast, Belfast, UK.

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http://dx.doi.org/10.3233/JAD-140243DOI Listing
August 2015

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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http://dx.doi.org/10.1038/ng.2578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739472PMC
April 2013

Systematic review and meta-analysis of the association between complement component 3 and age-related macular degeneration: a HuGE review and meta-analysis.

Am J Epidemiol 2011 Jun 16;173(12):1365-79. Epub 2011 May 16.

Section for Clinical Epidemiology and Biostatistics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

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http://dx.doi.org/10.1093/aje/kwr025DOI Listing
June 2011

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

J Med Genet 2011 Mar 8;48(3):145-51. Epub 2010 Dec 8.

Queen's University Belfast, Centre for Vision and Vascular Science, Ophthalmic Research Centre, Institute of Clinical Science A, Royal Victoria Hospital, Belfast BT12 6BA, N Ireland, UK.

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http://www.tara.tcd.ie/bitstream/handle/2262/55374/PEER_stag
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http://jmg.bmj.com/cgi/doi/10.1136/jmg.2010.083568
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http://dx.doi.org/10.1136/jmg.2010.083568DOI Listing
March 2011

Introduction to genetic epidemiology.

Optometry 2011 Feb 13;82(2):83-91. Epub 2010 Oct 13.

Department of Geriatric Medicine, Queen's University of Belfast, Belfast, United Kingdom.

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http://dx.doi.org/10.1016/j.optm.2010.01.014DOI Listing
February 2011

Comparing mfERGs with estimates of cone density from in vivo imaging of the photoreceptor mosaic using a modified Heidelberg retina tomograph.

Vision Res 2010 Jul 22;50(15):1462-8. Epub 2010 Apr 22.

Vision Science Research Group, School of Biomedical Sciences, University of Ulster, Coleraine, N. Ireland, UK.

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http://dx.doi.org/10.1016/j.visres.2010.04.015DOI Listing
July 2010

Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.

Invest Ophthalmol Vis Sci 2009 Feb 20;50(2):533-9. Epub 2008 Sep 20.

Centre for Vision Sciences, Queen's University of Belfast, Belfast, Northern Ireland, United Kingdom.

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http://dx.doi.org/10.1167/iovs.08-2275DOI Listing
February 2009

Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis.

Mol Vis 2006 May 12;12:499-505. Epub 2006 May 12.

Department of Medical Genetics, Queen's University of Belfast, Royal Victoria Hospital, Belfast, United Kingdom.

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May 2006

Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.

Invest Ophthalmol Vis Sci 2005 Jan;46(1):322-8

Ophthalmic Research Centre, Institute of Clinical Science, Queen's University of Belfast, Belfast, Northern Ireland, United Kingdom.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.04-0734DOI Listing
January 2005

A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.

Mol Vis 2004 Sep 24;10:682-7. Epub 2004 Sep 24.

Department of Ophthalmology and Vision Science, Queen's University of Belfast, Belfast, Northern Ireland.

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September 2004

Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.

Invest Ophthalmol Vis Sci 2003 Dec;44(12):5063-6

Department of Medical Genetics, Queen's University, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, Northern Ireland, U.K.

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http://dx.doi.org/10.1167/iovs.03-0399DOI Listing
December 2003