Publications by authors named "Rinki Ratnapriya"

40Publications

A unique -associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique variant.

Mol Vis 2020 16;26:299-310. Epub 2020 Apr 16.

Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University Jerusalem, Jerusalem, Israel.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245606PMC
April 2020

Reply.

Ophthalmology 2020 03;127(3):e19-e20

Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2019.10.033DOI Listing
March 2020

Applications of Genomic Technologies in Retinal Degenerative Diseases.

Authors:
Rinki Ratnapriya

Adv Exp Med Biol 2019 ;1185:281-285

Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/978-3-030-27378-1_46DOI Listing
February 2020

Genome-wide analysis of disease progression in age-related macular degeneration.

Hum Mol Genet 2018 03;27(5):929-940

Division of Pulmonary Medicine, Allergy and Immunology, Department of Pediatrics, Children's Hospital of Pittsburgh of UPMC University of Pittsburgh, Pittsburgh, PA 15224, USA.

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http://dx.doi.org/10.1093/hmg/ddy002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059197PMC
March 2018

Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration.

Ophthalmology 2018 03 8;125(3):398-406. Epub 2017 Dec 8.

Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2017.10.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820204PMC
March 2018

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Invest Ophthalmol Vis Sci 2016 11;57(14):6374-6381

Neurobiology, Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.16-19785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5132076PMC
November 2016

Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research.

Prog Retin Eye Res 2016 11 11;55:1-31. Epub 2016 Jun 11.

Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD, 20892-0610, USA. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2016.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112143PMC
November 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

Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease.

Prog Retin Eye Res 2015 May 7;46:1-30. Epub 2015 Feb 7.

Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, 6 Center Drive, Bethesda, MD 20892-0610, USA. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2015.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402139PMC
May 2015

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

Invest Ophthalmol Vis Sci 2014 Dec 16;56(1):420-30. Epub 2014 Dec 16.

Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1167/iovs.14-15647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296770PMC
December 2014

No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38.

Ophthalmology 2014 Nov 26;121(11):2173-80. Epub 2014 Jun 26.

Center for Statistical Genetics, Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, Michigan.

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http://dx.doi.org/10.1016/j.ophtha.2014.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253656PMC
November 2014

Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.

Genome Med 2013 11;5(10):84. Epub 2013 Oct 11.

Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1186/gm488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066589PMC
August 2014

A locus for juvenile myoclonic epilepsy maps to 2q33-q36.

Hum Genet 2010 Aug 14;128(2):123-30. Epub 2010 May 14.

Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, 560 064, India.

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http://dx.doi.org/10.1007/s00439-010-0831-6DOI Listing
August 2010

Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28.

Hum Genet 2009 Nov 14;126(5):677-83. Epub 2009 Jul 14.

Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore 560064, India.

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http://link.springer.com/10.1007/s00439-009-0718-6
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http://dx.doi.org/10.1007/s00439-009-0718-6DOI Listing
November 2009

A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3.

Hum Genet 2009 Jun 6;125(5-6):541-9. Epub 2009 Mar 6.

Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, India.

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http://dx.doi.org/10.1007/s00439-009-0648-3DOI Listing
June 2009

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.

Ann Neurol 2008 Aug;64(2):158-67

Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, India.

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http://dx.doi.org/10.1002/ana.21428DOI Listing
August 2008