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Papers authored by Rinki Ratnapriya

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2016 Deborah A. Ferrington

ORCID

, Rebecca J. Kapphahn, Michaela M. Leary, Shari R. Atilano

ORCID

, Marcia R. Terluk, Pabalu Karunadharma, George Kuei-Jie Chen, Rinki Ratnapriya

ORCID

, Anand Swaroop, Sandra R. Montezuma, M. Cristina Kenney

Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration

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Joe Rainger, Kathleen A. Williamson, Erin Strachan, Sonya A. Widen, Andrew Waskiewicz, Christina Gerth-Kahlert, Anand Swaroop, Chunqiao Liu, Ramakrishna P. Alur, Souparnika H. Manjunath, Archana Balakrishnan, Ordan J. Lehmann, Tiansen Li, Rinki Ratnapriya

ORCID

, Brian P. Brooks and 2 other authors

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

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2015 Lars G. (Lars) Fritsche

ORCID

, Wilmar Igl, Jessica N. Cooke Bailey

ORCID

, Sebanti Sengupta, C. (Claudia) von N. von Strachwitz, Jennifer L. (Jennifer L.) Bragg-Gresham, Felix Grassmann, Kathryn P. (Kathryn P.) Burdon

ORCID

, Cindy Wen, Scott J. (Scott J.) Hebbring, Donald Zack, Mathias Gorski, Valentina Cipriani, Eric H. (Eric) Souied, Ivana K. (Ivana) Kim and 163 other authors

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

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Avigail Beryozkin, Elia Shevah, Adva Kimchi, Liliana Mizrahi-Meissonnier, Samer Khateb, Rinki Ratnapriya

ORCID

, Csilla H. Lazar, Anat Blumenfeld, Tamar Ben-Yosef, Yitzhak Hemo, Jacob Pe'er, Eduard Averbuch, Michal Sagi, Alexis Boleda, Linn Gieser and 8 other authors

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

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Csilla H. Lazar, Adva Kimchi, Prasanthi Namburi, Mousumi Mutsuddi, Lina Zelinger, Avigail Beryozkin, Shiran Ben-Simhon, Alexey Obolensky, Ziva Ben-Neriah, Zohar Argov, Eli Pikarsky, Yakov Fellig, Devorah Marks-Ohana, Rinki Ratnapriya

ORCID

, Eyal Banin and 2 other authors

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations inALMS1andDYSF

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Felix Grassmann, Monika Fleckenstein, Emily Y. Chew, Tobias Strunz, Steffen Schmitz-Valckenberg, Arno P. Göbel, Michael L. Klein, Rinki Ratnapriya

ORCID

, Anand Swaroop, Frank G. Holz, Bernhard H. F. Weber

Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-Related Macular Degeneration

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Hyun-Jin Yang, Rinki Ratnapriya

ORCID

, Tiziana Cogliati, Jung-Woong Kim, Anand Swaroop

ORCID

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

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2014 Csilla Hanga Lazar, Mousumi Mutsuddi, Adva Kimchi, Lina Zelinger, Liliana Mizrahi-Meissonnier, Devorah Marks-Ohana, Alexis Boleda, Rinki Ratnapriya

ORCID

, Dror Sharon, Anand Swaroop, Eyal Banin

Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone-Rod Dystrophy in Israel

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Emily Y. Chew

ORCID

, Michael L. Klein, Traci E. Clemons, Elvira Agrón, Rinki Ratnapriya

ORCID

, Albert O. Edwards, Lars G. Fritsche, Anand Swaroop

ORCID

, Gonçalo R. Abecasis

No Clinically Significant Association between CFH and ARMS2 Genotypes and Response to Nutritional Supplements

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Rinki Ratnapriya

ORCID

, Xiaowei Zhan, Robert N. Fariss, Ke E. Branham, David Zipprer, Cf F. Chakarova, Yv V. Sergeev, Maria Mm Campos, Mohammad Othman, Js S. Friedman, Arvydas Maminishkis, Nh H. Waseem, Matthew Brooks, Hk K. Rajasimha, Ao O. Edwards and 55 other authors

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

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Jerome E. Roger

ORCID

, Avinash Hiriyanna, Norimoto Gotoh, Hong Hao, Debbie F. Cheng, Rinki Ratnapriya

ORCID

, Marie-Audrey I. Kautzmann, Bo Chang, Anand Swaroop

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

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2013 Rinki Ratnapriya

ORCID

, Anand Swaroop

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

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Xiaowei Zhan, David E. Larson, Chaolong Wang, Daniel C. Koboldt, Yuri V. Sergeev, Robert S. Fulton, Lucinda Ll Fulton, Catrina Cc Fronick, Kari E. Branham, Jennifer Bragg-Gresham, Goo Jun, Youna Hu, Hyun Min Kang, Dajiang Liu, Mohammad Othman and 47 other authors

Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration

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Rinki Ratnapriya

ORCID

, Emily Y. Chew

Age-related macular degeneration – clinical review and genetics update

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Lars G. Fritsche, Matthew Schu, Brian L. Yaspan, Yi Yu, Gudmar Thorleifsson, Donald J. Zack, Stephan Ripke, Xueling Sim, Daniel E. Weeks, Robyn Reynolds, Andrea J. Richardson, Raymond Ripp, Guenther Rudolph, Euijung Ryu, José-Alain Sahel and 143 other authors

Seven new loci associated with age-related macular degeneration.

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2010 Rinki Ratnapriya

ORCID

, Joseph Vijai, Jayaram S. Kadandale, Rajesh S. Iyer, Kurupath Radhakrishnan, Anuranjan Anand

A locus for juvenile myoclonic epilepsy maps to 2q33–q36

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2009 Rinki Ratnapriya

ORCID

, Parthasarthy Satishchandra, S. Dilip Kumar, S. Dilip Kumar, Girish Gadre, Ramesh Reddy, Anuranjan Anand

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

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Rinki Ratnapriya

ORCID

, Parthasarthy Satishchandra, S. Dilip, Girish Gadre, Anuranjan Anand

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

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2008 Ashish Kapoor, Parthasarathy Satishchandra, Rinki Ratnapriya

ORCID

, Ramesh Reddy, Jayaram Kadandale, Susarla K. Shankar, Anuranjan Anand

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

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2007 Ashish Kapoor, R. Ratnapriya

ORCID

, Gigy Kuruttukulam, Anuranjan Anand

A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14

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