Anand Swaroop

Anand Swaroop

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Anand Swaroop

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The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.

Acta Ophthalmol 2019 Sep 29;97(6):e877-e886. Epub 2019 Mar 29.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1111/aos.14095DOI Listing
September 2019

Longitudinal Examination of Links Between Risk Factors for the Metabolic Syndrome and Both Age and Fasting Glucose Levels in Nondiabetic Subjects.

J Am Coll Nutr 2018 May-Jun;37(4):336-341. Epub 2018 Mar 13.

d Cepham Research Center , Piscataway , New Jersey , USA.

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http://dx.doi.org/10.1080/07315724.2017.1413962DOI Listing
August 2019

Determination of Mitochondrial Oxygen Consumption in the Retina Ex Vivo: Applications for Retinal Disease.

Methods Mol Biol 2018 ;1753:167-177

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

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http://dx.doi.org/10.1007/978-1-4939-7720-8_11DOI Listing
January 2019

Molecular dissection of cone photoreceptor-enriched genes encoding transmembrane and secretory proteins.

J Neurosci Res 2019 Jan 27;97(1):16-28. Epub 2018 Sep 27.

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

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http://doi.wiley.com/10.1002/jnr.24329
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http://dx.doi.org/10.1002/jnr.24329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6239890PMC
January 2019

Mitochondrial Respiration in Outer Retina Contributes to Light-Evoked Increase in Hydration In Vivo.

Invest Ophthalmol Vis Sci 2018 12;59(15):5957-5964

Department of Ophthalmology, Visual and Anatomical Sciences, Wayne State University School of Medicine, Detroit, Michigan, United States.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.18-25682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296210PMC
December 2018

Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.

Hum Mol Genet 2018 10;27(20):3612-3626

National Therapeutics for Rare and Neglected Diseases, National Center for Advancing Translational Sciences, National Institutes of Health, Rockville, MD, USA.

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https://academic.oup.com/hmg/article/27/20/3612/5056151
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http://dx.doi.org/10.1093/hmg/ddy259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454448PMC
October 2018

Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina.

Hum Mol Genet 2018 10;27(20):3555-3567

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

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https://academic.oup.com/hmg/article/27/20/3555/5061928
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http://dx.doi.org/10.1093/hmg/ddy272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454433PMC
October 2018

Mini and customized low-cost bioreactors for optimized high-throughput generation of tissue organoids.

Stem Cell Investig 2018 10;5:33. Epub 2018 Oct 10.

Neurobiology, Neurodegeneration & Repair Laboratory, National Eye Institute, Bethesda, MD, USA.

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http://sci.amegroups.com/article/view/21769/21219
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http://dx.doi.org/10.21037/sci.2018.09.06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232071PMC
October 2018

Examining the Relationship Between Nonalcoholic Fatty Liver Disease and the Metabolic Syndrome in Nondiabetic Subjects.

J Am Coll Nutr 2018 08 13;37(6):457-465. Epub 2018 Apr 13.

f Emergency Department , Veterans Administration Medical Center , Salem , Virginia , USA.

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http://dx.doi.org/10.1080/07315724.2018.1443292DOI Listing
August 2018

Blood Pressure Regulation: Reviewing Evidence for Interplay Between Common Dietary Sugars and Table Salt.

J Am Coll Nutr 2017 Nov-Dec;36(8):677-684. Epub 2017 Sep 29.

f Integrative Health Technologies , San Antonio , Texas , USA.

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https://www.tandfonline.com/doi/full/10.1080/07315724.2017.1
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http://dx.doi.org/10.1080/07315724.2017.1345338DOI Listing
July 2018

Epigenetic control of gene regulation during development and disease: A view from the retina.

Prog Retin Eye Res 2018 07 12;65:1-27. Epub 2018 Mar 12.

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

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http://dx.doi.org/10.1016/j.preteyeres.2018.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054546PMC
July 2018

RNA Biology in Retinal Development and Disease.

Trends Genet 2018 05 31;34(5):341-351. Epub 2018 Jan 31.

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

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http://dx.doi.org/10.1016/j.tig.2018.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910263PMC
May 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

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

The cellular and compartmental profile of mouse retinal glycolysis, tricarboxylic acid cycle, oxidative phosphorylation, and ~P transferring kinases.

Mol Vis 2016 23;22:847-85. Epub 2016 Jul 23.

College of Optometry, University of Houston, Houston TX; Department of Biology and Biochemistry, University of Houston, Houston TX; Department of Pharmacology and Pharmaceutical Sciences, University of Houston, Houston TX.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4961465PMC
January 2018

Accelerated and Improved Differentiation of Retinal Organoids from Pluripotent Stem Cells in Rotating-Wall Vessel Bioreactors.

Stem Cell Reports 2018 01 7;10(1):300-313. Epub 2017 Dec 7.

Neurobiology, Neurodegeneration, and Repair Laboratory (N-NRL), National Eye Institute (NEI), National Institutes of Health, Bldg 6/338, 6 Center Drive, Bethesda, MD 20814, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711173048
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http://dx.doi.org/10.1016/j.stemcr.2017.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5768666PMC
January 2018

Regulation of Noncoding Transcriptome in Developing Photoreceptors by Rod Differentiation Factor NRL.

Invest Ophthalmol Vis Sci 2017 09;58(11):4422-4435

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

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http://dx.doi.org/10.1167/iovs.17-21805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584472PMC
September 2017

A small plant with big benefits: Fenugreek (Trigonella foenum-graecum Linn.) for disease prevention and health promotion.

Mol Nutr Food Res 2017 06 27;61(6). Epub 2017 Apr 27.

Department of Pharmaceutical Sciences, College of Pharmacy, Larkin University, Miami, FL, USA.

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http://dx.doi.org/10.1002/mnfr.201600950DOI Listing
June 2017

Pias3 is necessary for dorso-ventral patterning and visual response of retinal cones but is not required for rod photoreceptor differentiation.

Biol Open 2017 Jun 15;6(6):881-890. Epub 2017 Jun 15.

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

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http://dx.doi.org/10.1242/bio.024679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5483026PMC
June 2017

Efficacy of Furosap, a novel seed extract, in Enhancing Testosterone Level and Improving Sperm Profile in Male Volunteers.

Int J Med Sci 2017 10;14(1):58-66. Epub 2017 Jan 10.

Cepham Research Center, Piscataway, NJ, USA; University of Houston College of Pharmacy, Houston, TX, USA.

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http://dx.doi.org/10.7150/ijms.17256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278660PMC
May 2017

Nrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice.

Nat Commun 2017 03 14;8:14716. Epub 2017 Mar 14.

Ocular Gene Therapy Core, National Eye Institute, NIH, 6 Center Drive, Room 307, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/ncomms14716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355895PMC
March 2017

Inferior vena cava and intra-cardiac invasion of hepatocellular carcinoma: a rare but catastrophic complication.

Med J Malaysia 2017 02;72(1):58-59

Sengkang General Hospital, Singapore.

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February 2017

Transcriptome profiling of NIH3T3 cell lines expressing opsin and the P23H opsin mutant identifies candidate drugs for the treatment of retinitis pigmentosa.

Pharmacol Res 2017 01 9;115:1-13. Epub 2016 Nov 9.

Department of Pharmacology, Cleveland Center for Membrane and Structural Biology, School of Medicine, Case Western Reserve University, Cleveland, OH 44106, United States. Electronic address:

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http://dx.doi.org/10.1016/j.phrs.2016.10.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5205556PMC
January 2017

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

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

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

Rapid, Dynamic Activation of Müller Glial Stem Cell Responses in Zebrafish.

Invest Ophthalmol Vis Sci 2016 Oct;57(13):5148-5160

Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, Michigan, United States.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054728PMC
http://dx.doi.org/10.1167/iovs.16-19973DOI Listing
October 2016

Efficacy of a Novel Fenugreek Seed Extract (Trigonella foenum-graecum, Furocyst) in Polycystic Ovary Syndrome (PCOS).

Int J Med Sci 2015 3;12(10):825-31. Epub 2015 Oct 3.

1. Cepham Research Center, Piscataway, NJ, USA ; 6. Department of Pharmacological and Pharmaceutical Sciences, University of Houston College of Pharmacy, Houston, TX, USA.

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http://dx.doi.org/10.7150/ijms.13024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4615243PMC
September 2016

Three-dimensional retinal organoids from mouse pluripotent stem cells mimic development with enhanced stratification and rod photoreceptor differentiation.

Mol Vis 2016;22:1077-1094. Epub 2016 Sep 9.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017542PMC
September 2016

Synergistically acting agonists and antagonists of G protein-coupled receptors prevent photoreceptor cell degeneration.

Sci Signal 2016 07 26;9(438):ra74. Epub 2016 Jul 26.

Department of Pharmacology, School of Medicine, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106, USA. Polgenix Inc., Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1126/scisignal.aag0245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4972460PMC
July 2016

Centrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesis.

Development 2016 05 10;143(9):1491-501. Epub 2016 Mar 10.

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

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http://dx.doi.org/10.1242/dev.130120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909859PMC
May 2016

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.

Proc Natl Acad Sci U S A 2016 May 9;113(21):E2925-34. Epub 2016 May 9.

Neurobiology Neurodegeneration & Repair Laboratory (N-NRL), National Eye Institute, Bethesda, MD 20892;

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http://dx.doi.org/10.1073/pnas.1523201113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889371PMC
May 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

Gene-Based Association Analysis for Censored Traits Via Fixed Effect Functional Regressions.

Genet Epidemiol 2016 Feb 18;40(2):133-43. Epub 2016 Jan 18.

Division of Pulmonary Medicine, Allergy and Immunology, Children's Hospital of Pittsburgh at The University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.

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http://dx.doi.org/10.1002/gepi.21947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724326PMC
February 2016

Genetic components in diabetic retinopathy.

Indian J Ophthalmol 2016 Jan;64(1):55-61

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

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http://dx.doi.org/10.4103/0301-4738.178153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821123PMC
January 2016

Quantification of Oxygen Consumption in Retina Ex Vivo Demonstrates Limited Reserve Capacity of Photoreceptor Mitochondria.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):8428-36

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

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http://dx.doi.org/10.1167/iovs.15-17901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4699410PMC
December 2015

Furostanolic saponins from Trigonella foenum-graecum alleviate diet-induced glucose intolerance and hepatic fat accumulation.

Mol Nutr Food Res 2015 Oct 14;59(10):2094-100. Epub 2015 Aug 14.

Center for Cardiovascular Research and Alternative Medicine, School of Pharmacy, College of Health Sciences, University of Wyoming, Laramie, WY, USA.

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http://doi.wiley.com/10.1002/mnfr.201500197
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http://dx.doi.org/10.1002/mnfr.201500197DOI Listing
October 2015

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

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

Biology and therapy of inherited retinal degenerative disease: insights from mouse models.

Dis Model Mech 2015 Feb;8(2):109-29

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

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http://dmm.biologists.org/content/dmm/8/2/109.full.pdf
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http://dmm.biologists.org/lookup/doi/10.1242/dmm.017913
Publisher Site
http://dx.doi.org/10.1242/dmm.017913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314777PMC
February 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

The transcription factor GTF2IRD1 regulates the topology and function of photoreceptors by modulating photoreceptor gene expression across the retina.

J Neurosci 2014 Nov;34(46):15356-68

Department of Ophthalmology, Wilmer Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, Departments of Molecular Biology and Genetics, Neuroscience, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, and Institut de la Vision, University Pierre and Marie Curie, Paris 75012, France

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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.2089-14.2
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http://dx.doi.org/10.1523/JNEUROSCI.2089-14.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228138PMC
November 2014

Free radical scavenging, antioxidant and cancer chemoprevention by grape seed proanthocyanidin: an overview.

Mutat Res 2014 Oct 19;768:69-73. Epub 2014 Apr 19.

Research & Development Division, Cepham Inc., Piscataway, NJ, USA.

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http://dx.doi.org/10.1016/j.mrfmmm.2014.04.004DOI Listing
October 2014

Safety, efficacy and toxicological evaluation of a novel, patented anti-diabetic extract of Trigonella Foenum-Graecum seed extract (Fenfuro).

Toxicol Mech Methods 2014 Oct 11;24(7):495-503. Epub 2014 Sep 11.

Research and Development, Cepham Inc. , Piscataway, NJ , USA .

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http://dx.doi.org/10.3109/15376516.2014.943443DOI Listing
October 2014

Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a.

Biol Open 2014 Sep 4;3(9):861-70. Epub 2014 Sep 4.

Neurobiology-Neurodegeneration and Repair Laboratory (N-NRL), MSC0610, 6 Center Drive, Bethesda, MD 20892, USA

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http://dx.doi.org/10.1242/bio.20148375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4163663PMC
September 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

Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL.

Hum Mol Genet 2014 Aug 1;23(16):4260-71. Epub 2014 Apr 1.

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

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http://dx.doi.org/10.1093/hmg/ddu143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103675PMC
August 2014

Deletion of aryl hydrocarbon receptor AHR in mice leads to subretinal accumulation of microglia and RPE atrophy.

Invest Ophthalmol Vis Sci 2014 Aug 26;55(9):6031-40. Epub 2014 Aug 26.

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.14-15091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176417PMC
August 2014

Development and plasticity of outer retinal circuitry following genetic removal of horizontal cells.

J Neurosci 2013 Nov;33(45):17847-62

Neuroscience Research Institute, Department of Molecular, Cellular and Developmental Biology, Center for Bio-Image Informatics, Department of Electrical and Computer Engineering, and Department of Psychological and Brain Sciences, University of California, Santa Barbara, California 93106, Department of Molecular Physiology and Biophysics and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, Department of Pediatrics, University of Texas Medical School, Houston, Texas 77030, Department of Medicine, Division of Neurology, Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina 27710, and Biological Imaging Core and Neurobiology-Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892.

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http://www.jneurosci.org/content/33/45/17847.full.pdf
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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.1373-13.2
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http://dx.doi.org/10.1523/JNEUROSCI.1373-13.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818557PMC
November 2013

Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration.

Invest Ophthalmol Vis Sci 2013 Jul 2;54(7):4503-11. Epub 2013 Jul 2.

Department of Ophthalmology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1167/iovs.13-12140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3700388PMC
July 2013