Dwight Stambolian

Dwight Stambolian

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Dwight Stambolian

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Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.

Birth Defects Res 2019 Aug 20;111(13):888-905. Epub 2019 Jun 20.

Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/bdr2.1534DOI Listing
August 2019

Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33.

Hum Genet 2019 Apr 2;138(4):339-354. Epub 2019 Mar 2.

Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr, Suite 1200, Baltimore, MD, 21224, USA.

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http://dx.doi.org/10.1007/s00439-019-01991-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486401PMC
April 2019

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.

Authors:
Milly S Tedja Robert Wojciechowski Pirro G Hysi Nicholas Eriksson Nicholas A Furlotte Virginie J M Verhoeven Adriana I Iglesias Magda A Meester-Smoor Stuart W Tompson Qiao Fan Anthony P Khawaja Ching-Yu Cheng René Höhn Kenji Yamashiro Adam Wenocur Clare Grazal Toomas Haller Andres Metspalu Juho Wedenoja Jost B Jonas Ya Xing Wang Jing Xie Paul Mitchell Paul J Foster Barbara E K Klein Ronald Klein Andrew D Paterson S Mohsen Hosseini Rupal L Shah Cathy Williams Yik Ying Teo Yih Chung Tham Preeti Gupta Wanting Zhao Yuan Shi Woei-Yuh Saw E-Shyong Tai Xue Ling Sim Jennifer E Huffman Ozren Polašek Caroline Hayward Goran Bencic Igor Rudan James F Wilson Peter K Joshi Akitaka Tsujikawa Fumihiko Matsuda Kristina N Whisenhunt Tanja Zeller Peter J van der Spek Roxanna Haak Hanne Meijers-Heijboer Elisabeth M van Leeuwen Sudha K Iyengar Jonathan H Lass Albert Hofman Fernando Rivadeneira André G Uitterlinden Johannes R Vingerling Terho Lehtimäki Olli T Raitakari Ginevra Biino Maria Pina Concas Tae-Hwi Schwantes-An Robert P Igo Gabriel Cuellar-Partida Nicholas G Martin Jamie E Craig Puya Gharahkhani Katie M Williams Abhishek Nag Jugnoo S Rahi Phillippa M Cumberland Cécile Delcourt Céline Bellenguez Janina S Ried Arthur A Bergen Thomas Meitinger Christian Gieger Tien Yin Wong Alex W Hewitt David A Mackey Claire L Simpson Norbert Pfeiffer Olavi Pärssinen Paul N Baird Veronique Vitart Najaf Amin Cornelia M van Duijn Joan E Bailey-Wilson Terri L Young Seang-Mei Saw Dwight Stambolian Stuart MacGregor Jeremy A Guggenheim Joyce Y Tung Christopher J Hammond Caroline C W Klaver

Nat Genet 2018 06 28;50(6):834-848. Epub 2018 May 28.

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://www.nature.com/articles/s41588-018-0127-7
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http://dx.doi.org/10.1038/s41588-018-0127-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980758PMC
June 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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http://dx.doi.org/10.1097/IAE.0000000000001428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581780PMC
October 2017

Imaging Lenticular Autofluorescence in Older Subjects.

Invest Ophthalmol Vis Sci 2017 10;58(12):4940-4947

Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

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http://dx.doi.org/10.1167/iovs.17-22540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5627676PMC
October 2017

RNA expression in human retina.

Hum Mol Genet 2017 08;26(R1):R68-R74

Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/hmg/ddx219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886467PMC
August 2017

Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.

Invest Ophthalmol Vis Sci 2017 07;58(9):3547-3554

Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.16-21271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510992PMC
July 2017

Rare copy number variants in patients with congenital conotruncal heart defects.

Birth Defects Res 2017 Mar 13;109(4):271-295. Epub 2017 Feb 13.

Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/bdra.23609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407323PMC
March 2017

A reference panel of 64,976 haplotypes for genotype imputation.

Authors:
Shane McCarthy Sayantan Das Warren Kretzschmar Olivier Delaneau Andrew R Wood Alexander Teumer Hyun Min Kang Christian Fuchsberger Petr Danecek Kevin Sharp Yang Luo Carlo Sidore Alan Kwong Nicholas Timpson Seppo Koskinen Scott Vrieze Laura J Scott He Zhang Anubha Mahajan Jan Veldink Ulrike Peters Carlos Pato Cornelia M van Duijn Christopher E Gillies Ilaria Gandin Massimo Mezzavilla Arthur Gilly Massimiliano Cocca Michela Traglia Andrea Angius Jeffrey C Barrett Dorrett Boomsma Kari Branham Gerome Breen Chad M Brummett Fabio Busonero Harry Campbell Andrew Chan Sai Chen Emily Chew Francis S Collins Laura J Corbin George Davey Smith George Dedoussis Marcus Dorr Aliki-Eleni Farmaki Luigi Ferrucci Lukas Forer Ross M Fraser Stacey Gabriel Shawn Levy Leif Groop Tabitha Harrison Andrew Hattersley Oddgeir L Holmen Kristian Hveem Matthias Kretzler James C Lee Matt McGue Thomas Meitinger David Melzer Josine L Min Karen L Mohlke John B Vincent Matthias Nauck Deborah Nickerson Aarno Palotie Michele Pato Nicola Pirastu Melvin McInnis J Brent Richards Cinzia Sala Veikko Salomaa David Schlessinger Sebastian Schoenherr P Eline Slagboom Kerrin Small Timothy Spector Dwight Stambolian Marcus Tuke Jaakko Tuomilehto Leonard H Van den Berg Wouter Van Rheenen Uwe Volker Cisca Wijmenga Daniela Toniolo Eleftheria Zeggini Paolo Gasparini Matthew G Sampson James F Wilson Timothy Frayling Paul I W de Bakker Morris A Swertz Steven McCarroll Charles Kooperberg Annelot Dekker David Altshuler Cristen Willer William Iacono Samuli Ripatti Nicole Soranzo Klaudia Walter Anand Swaroop Francesco Cucca Carl A Anderson Richard M Myers Michael Boehnke Mark I McCarthy Richard Durbin

Nat Genet 2016 10 22;48(10):1279-83. Epub 2016 Aug 22.

Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK.

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http://dx.doi.org/10.1038/ng.3643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388176PMC
October 2016

Low Vision Rehabilitation for Adult African Americans in Two Settings.

Optom Vis Sci 2016 07;93(7):673-82

*OD, FAAO †PhD ‡MSW, ACSW §BS ∥MD, PhD Pennsylvania College of Optometry at Salus University, Elkins Park, Pennsylvania (EMD, SDA, MG, EE, EBC); and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania (RF, JHE, DS).

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http://dx.doi.org/10.1097/OPX.0000000000000870DOI Listing
July 2016

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.

Authors:
Qiao Fan Virginie J M Verhoeven Robert Wojciechowski Veluchamy A Barathi Pirro G Hysi Jeremy A Guggenheim René Höhn Veronique Vitart Anthony P Khawaja Kenji Yamashiro S Mohsen Hosseini Terho Lehtimäki Yi Lu Toomas Haller Jing Xie Cécile Delcourt Mario Pirastu Juho Wedenoja Puya Gharahkhani Cristina Venturini Masahiro Miyake Alex W Hewitt Xiaobo Guo Johanna Mazur Jenifer E Huffman Katie M Williams Ozren Polasek Harry Campbell Igor Rudan Zoran Vatavuk James F Wilson Peter K Joshi George McMahon Beate St Pourcain David M Evans Claire L Simpson Tae-Hwi Schwantes-An Robert P Igo Alireza Mirshahi Audrey Cougnard-Gregoire Céline Bellenguez Maria Blettner Olli Raitakari Mika Kähönen Ilkka Seppala Tanja Zeller Thomas Meitinger Janina S Ried Christian Gieger Laura Portas Elisabeth M van Leeuwen Najaf Amin André G Uitterlinden Fernando Rivadeneira Albert Hofman Johannes R Vingerling Ya Xing Wang Xu Wang Eileen Tai-Hui Boh M Kamran Ikram Charumathi Sabanayagam Preeti Gupta Vincent Tan Lei Zhou Candice E H Ho Wan'e Lim Roger W Beuerman Rosalynn Siantar E-Shyong Tai Eranga Vithana Evelin Mihailov Chiea-Chuen Khor Caroline Hayward Robert N Luben Paul J Foster Barbara E K Klein Ronald Klein Hoi-Suen Wong Paul Mitchell Andres Metspalu Tin Aung Terri L Young Mingguang He Olavi Pärssinen Cornelia M van Duijn Jie Jin Wang Cathy Williams Jost B Jonas Yik-Ying Teo David A Mackey Konrad Oexle Nagahisa Yoshimura Andrew D Paterson Norbert Pfeiffer Tien-Yin Wong Paul N Baird Dwight Stambolian Joan E Bailey Wilson Ching-Yu Cheng Christopher J Hammond Caroline C W Klaver Seang-Mei Saw Jugnoo S Rahi Jean-François Korobelnik John P Kemp Nicholas J Timpson George Davey Smith Jamie E Craig Kathryn P Burdon Rhys D Fogarty Sudha K Iyengar Emily Chew Sarayut Janmahasatian Nicholas G Martin Stuart MacGregor Liang Xu Maria Schache Vinay Nangia Songhomitra Panda-Jonas Alan F Wright Jeremy R Fondran Jonathan H Lass Sheng Feng Jing Hua Zhao Kay-Tee Khaw Nick J Wareham Taina Rantanen Jaakko Kaprio Chi Pui Pang Li Jia Chen Pancy O Tam Vishal Jhanji Alvin L Young Angela Döring Leslie J Raffel Mary-Frances Cotch Xiaohui Li Shea Ping Yip Maurice K H Yap Ginevra Biino Simona Vaccargiu Maurizio Fossarello Brian Fleck Seyhan Yazar Jan Willem L Tideman Milly Tedja Margaret M Deangelis Margaux Morrison Lindsay Farrer Xiangtian Zhou Wei Chen Nobuhisa Mizuki Akira Meguro Kari Matti Mäkelä

Nat Commun 2016 Mar 29;7:11008. Epub 2016 Mar 29.

Department of Ophthalmology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ncomms11008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820539PMC
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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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

r2VIM: A new variable selection method for random forests in genome-wide association studies.

BioData Min 2016 1;9. Epub 2016 Feb 1.

Statistical Genetics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr, 21224 Baltimore, USA.

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http://dx.doi.org/10.1186/s13040-016-0087-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736152PMC
February 2016

Age-related macular degeneration: genetics and biology coming together.

Annu Rev Genomics Hum Genet 2014 16;15:151-71. Epub 2014 Apr 16.

Center for Statistical Genetics, Department of Biostatistics, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109; email: ,

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http://dx.doi.org/10.1146/annurev-genom-090413-025610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4217162PMC
May 2015

Transcriptome of the human retina, retinal pigmented epithelium and choroid.

Genomics 2015 May 31;105(5-6):253-64. Epub 2015 Jan 31.

Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pa 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2015.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404213PMC
May 2015

Drusen and photoreceptor abnormalities in African-Americans with intermediate non-neovascular age-related macular degeneration.

Curr Eye Res 2015 Apr 9;40(4):398-406. Epub 2014 Jun 9.

Department of Ophthalmology, Scheie Eye Institute, Perelman School of Medicine at the University of Pennsylvania , Philadelphia, PA , USA .

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http://dx.doi.org/10.3109/02713683.2014.925934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489141PMC
April 2015

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.

Hum Genet 2015 Feb 4;134(2):131-46. Epub 2014 Nov 4.

National Human Genome Research Institute, National Institutes of Health, 333 Cassell Drive Suite 1200, Baltimore, MD, 21224, USA.

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http://dx.doi.org/10.1007/s00439-014-1500-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291519PMC
February 2015

A recurrent mutation in PARK2 is associated with familial lung cancer.

Am J Hum Genet 2015 Feb 29;96(2):301-8. Epub 2015 Jan 29.

Department of Pharmacology and Toxicology, Medical College of Wisconsin, Milwaukee, WI 53226, USA; Cancer Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320264PMC
February 2015

Optic disc and cup segmentation from color fundus photograph using graph cut with priors.

Med Image Comput Comput Assist Interv 2013 ;16(Pt 2):75-82

Penn Image Computing and Science Laboratory (PICSL), Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165089PMC
April 2014

Regional replication of association with refractive error on 15q14 and 15q25 in the Age-Related Eye Disease Study cohort.

Mol Vis 2013 2;19:2173-86. Epub 2013 Nov 2.

Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826323PMC
March 2014

MATCHCLIP: locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads.

Front Genet 2013 16;4:157. Epub 2013 Aug 16.

Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

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http://dx.doi.org/10.3389/fgene.2013.00157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744852PMC
August 2013

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.

Authors:
Ching-Yu Cheng Maria Schache M Kamran Ikram Terri L Young Jeremy A Guggenheim Veronique Vitart Stuart MacGregor Virginie J M Verhoeven Veluchamy A Barathi Jiemin Liao Pirro G Hysi Joan E Bailey-Wilson Beate St Pourcain John P Kemp George McMahon Nicholas J Timpson David M Evans Grant W Montgomery Aniket Mishra Ya Xing Wang Jie Jin Wang Elena Rochtchina Ozren Polasek Alan F Wright Najaf Amin Elisabeth M van Leeuwen James F Wilson Craig E Pennell Cornelia M van Duijn Paulus T V M de Jong Johannes R Vingerling Xin Zhou Peng Chen Ruoying Li Wan-Ting Tay Yingfeng Zheng Merwyn Chew Kathryn P Burdon Jamie E Craig Sudha K Iyengar Robert P Igo Jonathan H Lass Emily Y Chew Toomas Haller Evelin Mihailov Andres Metspalu Juho Wedenoja Claire L Simpson Robert Wojciechowski René Höhn Alireza Mirshahi Tanja Zeller Norbert Pfeiffer Karl J Lackner Thomas Bettecken Thomas Meitinger Konrad Oexle Mario Pirastu Laura Portas Abhishek Nag Katie M Williams Ekaterina Yonova-Doing Ronald Klein Barbara E Klein S Mohsen Hosseini Andrew D Paterson Kari-Matti Makela Terho Lehtimaki Mika Kahonen Olli Raitakari Nagahisa Yoshimura Fumihiko Matsuda Li Jia Chen Chi Pui Pang Shea Ping Yip Maurice K H Yap Akira Meguro Nobuhisa Mizuki Hidetoshi Inoko Paul J Foster Jing Hua Zhao Eranga Vithana E-Shyong Tai Qiao Fan Liang Xu Harry Campbell Brian Fleck Igor Rudan Tin Aung Albert Hofman André G Uitterlinden Goran Bencic Chiea-Chuen Khor Hannah Forward Olavi Pärssinen Paul Mitchell Fernando Rivadeneira Alex W Hewitt Cathy Williams Ben A Oostra Yik-Ying Teo Christopher J Hammond Dwight Stambolian David A Mackey Caroline C W Klaver Tien-Yin Wong Seang-Mei Saw Paul N Baird

Am J Hum Genet 2013 Aug;93(2):264-77

Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119228, Singapore; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore; Centre for Quantitative Medicine, Office of Clinical Sciences, Duke-National University of Singapore Graduate Medical School, Singapore 169857, Singapore.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772747PMC
August 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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http://dx.doi.org/10.1038/ng.2578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739472PMC
April 2013

Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration.

Invest Ophthalmol Vis Sci 2013 Mar 5;54(3):1603-12. Epub 2013 Mar 5.

Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1167/iovs.12-11286DOI Listing
March 2013

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

Authors:
Virginie J M Verhoeven Pirro G Hysi Robert Wojciechowski Qiao Fan Jeremy A Guggenheim René Höhn Stuart MacGregor Alex W Hewitt Abhishek Nag Ching-Yu Cheng Ekaterina Yonova-Doing Xin Zhou M Kamran Ikram Gabriëlle H S Buitendijk George McMahon John P Kemp Beate St Pourcain Claire L Simpson Kari-Matti Mäkelä Terho Lehtimäki Mika Kähönen Andrew D Paterson S Mohsen Hosseini Hoi Suen Wong Liang Xu Jost B Jonas Olavi Pärssinen Juho Wedenoja Shea Ping Yip Daniel W H Ho Chi Pui Pang Li Jia Chen Kathryn P Burdon Jamie E Craig Barbara E K Klein Ronald Klein Toomas Haller Andres Metspalu Chiea-Chuen Khor E-Shyong Tai Tin Aung Eranga Vithana Wan-Ting Tay Veluchamy A Barathi Peng Chen Ruoying Li Jiemin Liao Yingfeng Zheng Rick T Ong Angela Döring David M Evans Nicholas J Timpson Annemieke J M H Verkerk Thomas Meitinger Olli Raitakari Felicia Hawthorne Tim D Spector Lennart C Karssen Mario Pirastu Federico Murgia Wei Ang Aniket Mishra Grant W Montgomery Craig E Pennell Phillippa M Cumberland Ioana Cotlarciuc Paul Mitchell Jie Jin Wang Maria Schache Sarayut Janmahasatian Sarayut Janmahasathian Robert P Igo Jonathan H Lass Emily Chew Sudha K Iyengar Theo G M F Gorgels Igor Rudan Caroline Hayward Alan F Wright Ozren Polasek Zoran Vatavuk James F Wilson Brian Fleck Tanja Zeller Alireza Mirshahi Christian Müller André G Uitterlinden Fernando Rivadeneira Johannes R Vingerling Albert Hofman Ben A Oostra Najaf Amin Arthur A B Bergen Yik-Ying Teo Jugnoo S Rahi Veronique Vitart Cathy Williams Paul N Baird Tien-Yin Wong Konrad Oexle Norbert Pfeiffer David A Mackey Terri L Young Cornelia M van Duijn Seang-Mei Saw Joan E Bailey-Wilson Dwight Stambolian Caroline C Klaver Christopher J Hammond

Nat Genet 2013 Mar 10;45(3):314-8. Epub 2013 Feb 10.

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740568PMC
March 2013

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.

Authors:
Virginie J M Verhoeven Pirro G Hysi Seang-Mei Saw Veronique Vitart Alireza Mirshahi Jeremy A Guggenheim Mary Frances Cotch Kenji Yamashiro Paul N Baird David A Mackey Robert Wojciechowski M Kamran Ikram Alex W Hewitt Priya Duggal Sarayut Janmahasatian Chiea-Chuen Khor Qiao Fan Xin Zhou Terri L Young E-Shyong Tai Liang-Kee Goh Yi-Ju Li Tin Aung Eranga Vithana Yik-Ying Teo Wanting Tay Xueling Sim Igor Rudan Caroline Hayward Alan F Wright Ozren Polasek Harry Campbell James F Wilson Brian W Fleck Isao Nakata Nagahisa Yoshimura Ryo Yamada Fumihiko Matsuda Kyoko Ohno-Matsui Abhishek Nag George McMahon Beate St Pourcain Yi Lu Jugnoo S Rahi Phillippa M Cumberland Shomi Bhattacharya Claire L Simpson Larry D Atwood Xiaohui Li Leslie J Raffel Federico Murgia Laura Portas Dominiek D G Despriet Leonieke M E van Koolwijk Christian Wolfram Karl J Lackner Anke Tönjes Reedik Mägi Terho Lehtimäki Mika Kähönen Tõnu Esko Andres Metspalu Taina Rantanen Olavi Pärssinen Barbara E Klein Thomas Meitinger Timothy D Spector Ben A Oostra Albert V Smith Paulus T V M de Jong Albert Hofman Najaf Amin Lennart C Karssen Fernando Rivadeneira Johannes R Vingerling Guðný Eiríksdóttir Vilmundur Gudnason Angela Döring Thomas Bettecken André G Uitterlinden Cathy Williams Tanja Zeller Raphaële Castagné Konrad Oexle Cornelia M van Duijn Sudha K Iyengar Paul Mitchell Jie Jin Wang René Höhn Norbert Pfeiffer Joan E Bailey-Wilson Dwight Stambolian Tien-Yin Wong Christopher J Hammond Caroline C W Klaver

Hum Genet 2012 Sep 5;131(9):1467-80. Epub 2012 Jun 5.

Department of Ophthalmology, Erasmus Medical Center, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00439-012-1176-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418496PMC
September 2012

Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis.

Mol Vis 2011 17;17:1641-51. Epub 2011 Jun 17.

1nherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123157PMC
November 2011

Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families.

Invest Ophthalmol Vis Sci 2010 Oct 19;51(10):4989-95. Epub 2010 May 19.

Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland 21224, USA.

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http://dx.doi.org/10.1167/iovs.10-5474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3066601PMC
October 2010

Genomic profiling of miRNAs in two human lens cell lines.

Curr Eye Res 2010 Sep;35(9):812-8

FM Kirby Center for Molecular Ophthalmology, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.3109/02713683.2010.489182DOI Listing
September 2010

Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.

Mol Vis 2010 Jul 15;16:1317-23. Epub 2010 Jul 15.

Neurobiology Neurodegeneration & Repair Laboratory (N-NRL), National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905635PMC
July 2010

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Proc Natl Acad Sci U S A 2010 Apr 12;107(16):7401-6. Epub 2010 Apr 12.

Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1073/pnas.0912702107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867722PMC
April 2010

Quasi-least squares with mixed linear correlation structures.

Stat Interface 2010 ;3(2):223-234

Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Tel: (215) 573-8950.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3328409PMC
January 2010

Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36.

Mol Vis 2009 Jul 17;15:1398-406. Epub 2009 Jul 17.

Inherited Disease Research Branch, National Human Genome Research Institute, 333 Cassell Drive, Baltimore, MD 21224, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713730PMC
July 2009

Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family Study.

Invest Ophthalmol Vis Sci 2009 May 17;50(5):2024-32. Epub 2009 Jan 17.

Inherited Disease Research Branch, National Human Genome Research Institute, Baltimore, Maryland 21231, USA.

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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.08-2848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2885973PMC
May 2009

Genome-wide scan of African-American and white families for linkage to myopia.

Am J Ophthalmol 2009 Mar 20;147(3):512-517.e2. Epub 2008 Nov 20.

Pennsylvania College of Optometry, Philadelphia, USA.

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http://dx.doi.org/10.1016/j.ajo.2008.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152232PMC
March 2009

MiRNA expression in the eye.

Mamm Genome 2008 Aug 22;19(7-8):510-6. Epub 2008 Jul 22.

Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104-6055, USA.

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http://dx.doi.org/10.1007/s00335-008-9127-8DOI Listing
August 2008

Genomewide scan of ocular refraction in African-American families shows significant linkage to chromosome 7p15.

Genet Epidemiol 2008 Jul;32(5):454-63

The Eye Institute of the Pennsylvania College of Optometry, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/gepi.20318DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097031PMC
July 2008

Identification of three novel NHS mutations in families with Nance-Horan syndrome.

Mol Vis 2007 Mar 27;13:470-4. Epub 2007 Mar 27.

F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647563PMC
March 2007

Genome-wide scan of additional Jewish families confirms linkage of a myopia susceptibility locus to chromosome 22q12.

Mol Vis 2006 Dec 4;12:1499-505. Epub 2006 Dec 4.

Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.

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December 2006

Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36.

Hum Genet 2006 May 24;119(4):389-99. Epub 2006 Feb 24.

Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

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http://dx.doi.org/10.1007/s00439-006-0153-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123998PMC
May 2006

Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.

Hum Mol Genet 2006 Jan 15;15(2):319-27. Epub 2005 Dec 15.

F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, Philadelphia, USA.

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http://dx.doi.org/10.1093/hmg/ddi449DOI Listing
January 2006

Genome-wide scan for myopia in the Old Order Amish.

Am J Ophthalmol 2005 Sep;140(3):469-76

Department of Ophthalmology, Stellar Chance Laboratories Rm. 313, University of Pennsylvania, 422 Curie Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ajo.2005.04.014DOI Listing
September 2005

Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development.

Mamm Genome 2005 May;16(5):332-43

F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, Stellar-Chance Bldg. Rm. 315, 422 Curie Blvd., Philadelphia, Pennsylvania 19104, USA.

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May 2005

Annotation and analysis of 10,000 expressed sequence tags from developing mouse eye and adult retina.

Genome Biol 2003 22;4(10):R65. Epub 2003 Sep 22.

Ophthalmology and Visual Science, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA.

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http://dx.doi.org/10.1186/gb-2003-4-10-r65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC328454PMC
August 2004

Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia.

BMC Med Genet 2004 Aug 3;5:20. Epub 2004 Aug 3.

Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 333 Cassell Dr., Suite 2000, Baltimore, MD 21224, USA.

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http://dx.doi.org/10.1186/1471-2350-5-20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC512288PMC
August 2004

Organization and annotation of the Xcat critical region: elimination of seven positional candidate genes.

Genomics 2004 May;83(5):893-901

F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, 422 Curie Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ygeno.2003.10.010DOI Listing
May 2004

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

Hum Mutat 2004 Apr;23(4):396

Department of Biopathology, Human Genetics Unit, Tor Vergata University of Rome, Italy.

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http://dx.doi.org/10.1002/humu.9223DOI Listing
April 2004

Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome.

Invest Ophthalmol Vis Sci 2002 Apr;43(4):1121-6

Division of Medical Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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April 2002