Works matching AU Swaroop, Anand

Results: 147

Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina.

Published in:

Nature Reviews Neuroscience, 2010, v. 11, n. 8, p. 563, doi. 10.1038/nrn2880

By:

Swaroop, Anand;
Kim, Douglas;
Forrest, Douglas

Publication type:

Article

Phenotypic Conservation in Patients With X-Linked Retinitis Pigmentosa Caused by RPGR Mutations.

Published in:

JAMA Ophthalmology, 2013, v. 131, n. 8, p. 1016, doi. 10.1001/jamaophthalmol.2013.120

By:

Zahid, Sarwar;
Khan, Naheed;
Branham, Kari;
Othman, Mohammad;
Karoukis, Athanasios J.;
Sharma, Nisha;
Moncrief, Ashley;
Mahmood, Mahdi N.;
Sieving, Paul A.;
Swaroop, Anand;
Heckenlively, John R.;
Jayasundera, Thiran

Publication type:

Article

QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46063-8

By:

Advani, Jayshree;
Mehta, Puja A.;
Hamel, Andrew R.;
Mehrotra, Sudeep;
Kiel, Christina;
Strunz, Tobias;
Corso-Díaz, Ximena;
Kwicklis, Madeline;
van Asten, Freekje;
Ratnapriya, Rinki;
Chew, Emily Y.;
Hernandez, Dena G.;
Montezuma, Sandra R.;
Ferrington, Deborah A.;
Weber, Bernhard H. F.;
Segrè, Ayellet V.;
Swaroop, Anand

Publication type:

Article

Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-023-44380-y

By:

Hamel, Andrew R.;
Yan, Wenjun;
Rouhana, John M.;
Monovarfeshani, Aboozar;
Jiang, Xinyi;
Mehta, Puja A.;
Advani, Jayshree;
Luo, Yuyang;
Liang, Qingnan;
Rajasundaram, Skanda;
Shrivastava, Arushi;
Duchinski, Katherine;
Mantena, Sreekar;
Wang, Jiali;
van Zyl, Tavé;
Pasquale, Louis R.;
Swaroop, Anand;
Gharahkhani, Puya;
Khawaja, Anthony P.;
MacGregor, Stuart

Publication type:

Article

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

Published in:

Molecular Nutrition & Food Research, 2017, v. 61, n. 6, p. n/a, doi. 10.1002/mnfr.201600950

By:

Nagulapalli Venkata, Kalyan C.;
Swaroop, Anand;
Bagchi, Debasis;
Bishayee, Anupam

Publication type:

Article

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

Published in:

Molecular Nutrition & Food Research, 2015, v. 59, n. 10, p. 2094, doi. 10.1002/mnfr.201500197

By:

Hua, Yinan;
Ren, Sidney Y.;
Guo, Rui;
Rogers, Olivia;
Nair, Rama P.;
Bagchi, Debasis;
Swaroop, Anand;
Nair, Sreejayan

Publication type:

Article

GATD3A, a mitochondrial deglycase with evolutionary origins from gammaproteobacteria, restricts the formation of advanced glycation end products.

Published in:

BMC Biology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12915-022-01267-6

By:

Smith, Andrew J.;
Advani, Jayshree;
Brock, Daniel C.;
Nellissery, Jacob;
Gumerson, Jessica;
Dong, Lijin;
Aravind, L.;
Kennedy, Breandán;
Swaroop, Anand

Publication type:

Article

Recruitment of the Rod Pathway by Cones in the Absence of Rods.

Published in:

Journal of Neuroscience, 2004, v. 24, n. 34, p. 7576, doi. 10.1523/JNEUROSCI.2245-04.2004

By:

Strettoi, Enrica;
Mears, Alan J.;
Swaroop, Anand

Publication type:

Article

GRK1-Dependent Phosphorylation of S and M Opsins and Their Binding to Cone Arrestin during Cone Phototransduction in the Mouse Retina.

Published in:

Journal of Neuroscience, 2003, v. 23, n. 14, p. 6152, doi. 10.1523/JNEUROSCI.23-14-06152.2003

By:

Xuemei Zhu;
Brown, Bruce;
Aimin Li;
Mears, Alan J.;
Swaroop, Anand;
Craft, Cheryl M.

Publication type:

Article

Continuing medical education programmes.

Published in:

2009

By:

Gupta, Anand Swaroop

Publication type:

Letter

Genome-wide association study and meta-analysis of intraocular pressure.

Published in:

Human Genetics, 2014, v. 133, n. 1, p. 41, doi. 10.1007/s00439-013-1349-5

By:

Ozel, A.;
Moroi, Sayoko;
Reed, David;
Nika, Melisa;
Schmidt, Caroline;
Akbari, Sara;
Scott, Kathleen;
Rozsa, Frank;
Pawar, Hemant;
Musch, David;
Lichter, Paul;
Gaasterland, Doug;
Branham, Kari;
Gilbert, Jesse;
Garnai, Sarah;
Chen, Wei;
Othman, Mohammad;
Heckenlively, John;
Swaroop, Anand;
Abecasis, Gonçalo

Publication type:

Article

Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 1, p. 64, doi. 10.1093/hmg/ddae161

By:

Dey, Partha Narayan;
Singh, Nivedita;
Zelinger, Lina;
Batz, Zachary;
Nellissery, Jacob;
Carreiro, Noor D White;
Qian, Haohua;
Li, Tiansen;
Fariss, Robert N;
Dong, Lijin;
Swaroop, Anand

Publication type:

Article

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 4, p. 374, doi. 10.1093/hmg/ddad189

By:

Kwong, Alan;
Zawistowski, Matthew;
Fritsche, Lars G;
Zhan, Xiaowei;
Bragg-Gresham, Jennifer;
Branham, Kari E;
Advani, Jayshree;
Othman, Mohammad;
Ratnapriya, Rinki;
Teslovich, Tanya M;
Stambolian, Dwight;
Chew, Emily Y;
Abecasis, Gonçalo R;
Swaroop, Anand

Publication type:

Article

Protein kinase CK2 modulates the activity of Maf-family bZIP transcription factor NRL in rod photoreceptors of mammalian retina.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 948, doi. 10.1093/hmg/ddac256

By:

Liang, Xulong;
Yadav, Sharda P;
Batz, Zachary A;
Nellissery, Jacob;
Swaroop, Anand

Publication type:

Article

Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6brd1/rd1 mouse model of retinal degeneration.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 13, p. 2137, doi. 10.1093/hmg/ddac013

By:

Jiang, Ke;
Mondal, Anupam Kumar;
Adlakha, Yogita K;
Gumerson, Jessica;
Aponte, Angel;
Gieser, Linn;
Kim, Jung-Woong;
Boleda, Alexis;
Brooks, Matthew J;
Nellissery, Jacob;
Fox, Donald A;
Balaban, Robert;
Covian, Raul;
Swaroop, Anand

Publication type:

Article

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 12, p. 2022, doi. 10.1093/hmg/ddaa057

By:

Ratnapriya, Rinki;
Acar, İlhan E;
Geerlings, Maartje J;
Branham, Kari;
Kwong, Alan;
Saksens, Nicole T M;
Pauper, Marc;
Corominas, Jordi;
Kwicklis, Madeline;
Zipprer, David;
Starostik, Margaret R;
Othman, Mohammad;
Yashar, Beverly;
Abecasis, Goncalo R;
Chew, Emily Y;
Ferrington, Deborah A;
Hoyng, Carel B;
Swaroop, Anand;
Hollander, Anneke I den

Publication type:

Article

Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 804, doi. 10.1093/hmg/ddy388

By:

Campla, Christie K;
Mast, Hannah;
Dong, Lijin;
Lei, Jingqi;
Halford, Stephanie;
Sekaran, Sumathi;
Swaroop, Anand

Publication type:

Article

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 1, p. 175, doi. 10.1093/hmg/ddy342

By:

Charng, Jason;
Cideciyan, Artur V;
Jacobson, Samuel G;
Sumaroka, Alexander;
Schwartz, Sharon B;
Swider, Malgorzata;
Roman, Alejandro J;
Sheplock, Rebecca;
Anand, Manisha;
Peden, Marc C;
Khanna, Hemant;
Heon, Elise;
Wright, Alan F;
Swaroop, Anand

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3612, doi. 10.1093/hmg/ddy259

By:

Swaroop, Manju;
Brooks, Matthew J;
Gieser, Linn;
Swaroop, Anand;
Zheng, Wei

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 20, p. 3555, doi. 10.1093/hmg/ddy272

By:

Assawachananont, Juthaporn;
Kim, Soo-Young;
Kaya, Koray D;
Fariss, Robert;
Roger, Jerome E;
Swaroop, Anand

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 5, p. 929, doi. 10.1093/hmg/ddy002

By:

Qi Yan;
Ying Ding;
Yi Liu;
Tao Sun;
Fritsche, Lars G.;
Clemons, Traci;
Ratnapriya, Rinki;
Klein, Michael L.;
Cook, Richard J.;
Yu Liu;
Ruzong Fan;
Lai Wei;
Abecasis, Gonçalo R.;
Swaroop, Anand;
Chew, Emily Y.;
Weeks, Daniel E.;
Wei Chen

Publication type:

Article

Nicotinamide Promotes Formation of Retinal Organoids From Human Pluripotent Stem Cells via Enhanced Neural Cell Fate Commitment.

Published in:

Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.878351

By:

Regent, Florian;
Batz, Zachary;
Kelley, Ryan A.;
Gieser, Linn;
Swaroop, Anand;
Chen, Holly Y.;
Li, Tiansen

Publication type:

Article

The Transcription Factor GTF2IRD1 Regulates the Topology and Function of Photoreceptors by Modulating Photoreceptor Gene Expression across the Retina.

Published in:

Journal of Neuroscience, 2014, v. 34, n. 46, p. 15356, doi. 10.1523/JNEUROSCI.2089-14.2014

By:

Masuda, Tomohiro;
Zhang, Xiaodong;
Berlinicke, Cindy;
Wan, Jun;
Yerrabelli, Anitha;
Conner, Elizabeth A.;
Kjellstrom, Sten;
Bush, Ronald;
Thorgeirsson, Snorri S.;
Swaroop, Anand;
Chen, Shiming;
Zack, Donald J.

Publication type:

Article

Development and Plasticity of Outer Retinal Circuitry Following Genetic Removal of Horizontal Cells.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 45, p. 17847, doi. 10.1523/JNEUROSCI.1373-13.2013

By:

Keeley, Patrick W.;
Luna, Gabriel;
Fariss, Robert N.;
Skyles, Kimberly A.;
Raven, Mary A.;
Poché, Ross A.;
Swindell, Eric C.;
Jamrich, Milan;
Oh, Edwin C.;
Swaroop, Anand;
Fisher, Steven K.;
Reese, Benjamin E.

Publication type:

Article

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.

Published in:

Nature Genetics, 2006, v. 38, n. 9, p. 1049, doi. 10.1038/ng1871

By:

Mingyao Li;
Atmaca-Sonmez, Pelin;
Othman, Mohammad;
Branham, Kari E. H.;
Khanna, Ritu;
Wade, Michael S.;
Yun Li;
Liming Liang;
Zareparsi, Sepideh;
Swaroop, Anand;
Abecasis, Gonçalo R.

Publication type:

Article

Nrl is required for rod photoreceptor development.

Published in:

Nature Genetics, 2001, v. 29, n. 4, p. 447, doi. 10.1038/ng774

By:

Mears, Alan J.;
Kondo, Mineo;
Swain, Prabodha K.;
Takada, Yuichiro;
Bush, Ronald A.;
Saunders, Thomas L.;
Sieving, Paul A.;
Swaroop, Anand

Publication type:

Article

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 355, doi. 10.1038/7678

By:

Bessant, David A.R.;
Payne, Annette M.;
Mitton, Kenneth P.;
Wang, Qing-Liang;
Swain, Prabodha K.;
Plant, Catherine;
Bird, Alan C.;
Zack, Donald J.;
Swaroop, Anand;
Bhattacharya, Shomi S.

Publication type:

Article

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.

Published in:

Journal of Genetics, 2009, v. 88, n. 4, p. 399, doi. 10.1007/s12041-009-0061-7

By:

MURGA-ZAMALLOA, CARLOS A.;
SWAROOP, ANAND;
KHANNA, HEMANT

Publication type:

Article

A role for prenylated rab acceptor 1 in vertebrate photoreceptor development.

Published in:

BMC Neuroscience, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2202-13-152

By:

Dickison, Virginia M.;
Richmond, Angela M.;
Irqeba, Ameair Abu;
Martak, Joshua G.;
Hoge, Sean C. E.;
Brooks, Matthew J.;
Othman, Mohammed I.;
Khanna, Ritu;
Mears, Alan J.;
Chowdhury, Adnan Y.;
Swaroop, Anand;
Ogilvie, Judith Mosinger

Publication type:

Article

A role for prenylated rab acceptor 1 in vertebrate photoreceptor development.

Published in:

2012

By:

Dickison, Virginia M;
Richmond, Angela M;
Abu Irqeba, Ameair;
Martak, Joshua G;
Hoge, Sean Ce;
Brooks, Matthew J;
Othman, Mohammed I;
Khanna, Ritu;
Mears, Alan J;
Chowdhury, Adnan Y;
Swaroop, Anand;
Ogilvie, Judith Mosinger;
Hoge, Sean C E

Publication type:

journal article

GATD3A, a mitochondrial deglycase with evolutionary origins from gammaproteobacteria, restricts the formation of advanced glycation end products.

Published in:

BMC Biology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12915-022-01267-6

By:

Smith, Andrew J.;
Advani, Jayshree;
Brock, Daniel C.;
Nellissery, Jacob;
Gumerson, Jessica;
Dong, Lijin;
Aravind, L.;
Kennedy, Breandán;
Swaroop, Anand

Publication type:

Article

GATD3A, a mitochondrial deglycase with evolutionary origins from gammaproteobacteria, restricts the formation of advanced glycation end products.

Published in:

BMC Biology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12915-022-01267-6

By:

Smith, Andrew J.;
Advani, Jayshree;
Brock, Daniel C.;
Nellissery, Jacob;
Gumerson, Jessica;
Dong, Lijin;
Aravind, L.;
Kennedy, Breandán;
Swaroop, Anand

Publication type:

Article

Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration.

Published in:

PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1009259

By:

Hargrove-Grimes, Passley;
Mondal, Anupam K.;
Gumerson, Jessica;
Nellissery, Jacob;
Aponte, Angel M.;
Gieser, Linn;
Qian, Haohua;
Fariss, Robert N.;
Bonifacino, Juan S.;
Li, Tiansen;
Swaroop, Anand

Publication type:

Article

A mega-analysis of expression quantitative trait loci in retinal tissue.

Published in:

PLoS Genetics, 2020, v. 16, n. 9, p. 1, doi. 10.1371/journal.pgen.1008934

By:

Strunz, Tobias;
Kiel, Christina;
Grassmann, Felix;
Ratnapriya, Rinki;
Kwicklis, Madeline;
Karlstetter, Marcus;
Fauser, Sascha;
Arend, Nicole;
Swaroop, Anand;
Langmann, Thomas;
Wolf, Armin;
Weber, Bernhard H. F.

Publication type:

Article

Tbx2a Modulates Switching of RH2 and LWS Opsin Gene Expression.

Published in:

Molecular Biology & Evolution, 2020, v. 37, n. 7, p. 2002, doi. 10.1093/molbev/msaa062

By:

Sandkam, Benjamin A;
Campello, Laura;
O'Brien, Conor;
Nandamuri, Sri Pratima;
Gammerdinger, William J;
Conte, Matthew A;
Swaroop, Anand;
Carleton, Karen L

Publication type:

Article

Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores.

Published in:

Genetics, 2017, v. 206, n. 1, p. 119, doi. 10.1534/genetics.116.196998

By:

Ying Ding;
Yi Liu;
Qi Yan;
Fritsche, Lars G.;
Cook, Richard J.;
Clemons, Traci;
Ratnapriya, Rinki;
Klein, Michael L.;
Abecasis, Gonçalo R.;
Swaroop, Anand;
Chew, Emily Y.;
Weeks, Daniel E.;
Wei Chen

Publication type:

Article

Age-related changes of the retinal microvasculature.

Published in:

PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0215916

By:

Orlov, Nikita V.;
Coletta, Cristopher;
van Asten, Freekje;
Qian, Yong;
Ding, Jun;
AlGhatrif, Majd;
Lakatta, Edward;
Chew, Emily;
Wong, Wai;
Swaroop, Anand;
Fiorillo, Edoardo;
Delitala, Alessandro;
Marongiu, Michele;
Goldberg, Ilya G.;
Schlessinger, David

Publication type:

Article

Clinical assessment of functional outcome in lateral epicondylitis managed by local infiltration of autologous blood.

Published in:

Internet Journal of Medical Update, 2010, v. 5, n. 1, p. 20, doi. 10.4314/ijmu.v5i1.49289

By:

Bharti, Ajay;
Avasthi, Sachin;
Solanki, Kapil;
Kumar, Sanjay;
Swaroop, Anand;
Sengar, G. K.

Publication type:

Article

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

Published in:

Journal of Neuroscience Research, 2019, v. 97, n. 1, p. 16, doi. 10.1002/jnr.24329

By:

Papal, Samantha;
Monti, Christopher E.;
Tennison, Mackenzie E.;
Swaroop, Anand

Publication type:

Article

Long wavelength-sensing cones of zebrafish retina exhibit multiple layers of transcriptional heterogeneity.

Published in:

Frontiers in Cellular Neuroscience, 2023, p. 1, doi. 10.3389/fncel.2023.1214084

By:

Farre, Ashley A.;
Chi Sun;
Starostik, Margaret R.;
Hunter, Samuel S.;
English, Milton A.;
Duncan, Audrey;
Santhanam, Abirami;
Shihabeddin, Eyad;
O'Brien, John;
Swaroop, Anand;
Stenkamp, Deborah L.

Publication type:

Article

An optimized protocol for retina single-cell RNA sequencing.

Published in:

Molecular Vision, 2020, v. 26, p. 705

By:

Fadl, Benjamin R.;
Brodie, Seth A.;
Malasky, Michael;
Boland, Joseph F.;
Kelly, Michael C.;
Kelley, Matthew W.;
Boger, Erich;
Fariss, Robert;
Swaroop, Anand;
Campello, Laura

Publication type:

Article

A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.

Published in:

Molecular Vision, 2020, v. 26, p. 299

By:

Namburi, Prasanthi;
Khateb, Samer;
Meyer, Segev;
Bentovim, Tom;
Ratnapriya, Rinki;
Khramushin, Alisa;
Swaroop, Anand;
Schueler-Furman, Ora;
Banin, Eyal;
Sharon, Dror

Publication type:

Article

A simple and efficient method for generating human retinal organoids.

Published in:

Molecular Vision, 2020, v. 26, p. 97

By:

Regent, Florian;
Chen, Holly Y.;
Kelley, Ryan A.;
Zepeng Qu;
Swaroop, Anand;
Tiansen Li

Publication type:

Article

Expression of deubiquitinating enzyme genes in the developing mammal retina.

Published in:

Molecular Vision, 2019, v. 25, p. 800

By:

Esquerdo-Barragán, Mariona;
Brooks, Matthew J.;
Toulis, Vasileios;
Swaroop, Anand;
Marfany, Gemma

Publication type:

Article

Transcriptome-based molecular staging of human stem cellderived retinal organoids uncovers accelerated photoreceptor differentiation by 9-cis retinal.

Published in:

Molecular Vision, 2019, v. 25, p. 663

By:

Kaya, Koray D.;
Chen, Holly Y.;
Brooks, Matthew J.;
Kelley, Ryan A.;
Hiroko Shimada;
Kunio Nagashima;
de Val, Natalia;
Drinnan, Charles T.;
Gieser, Linn;
Kruczek, Kamil;
Erceg, Slaven;
Tiansen Li;
Lukovic, Dunja;
Adlakha, Yogita K.;
Welby, Emily;
Swaroop, Anand

Publication type:

Article

Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent.

Published in:

Molecular Vision, 2019, v. 25, p. 79

By:

Rohrer, Bärbel;
Frazer-Abel, Ashley;
Leonard, Anthony;
Ratnapriya, Rinki;
Ward, Tyson;
Pietraszkiewicz, Alexandra;
O'Quinn, Elizabeth;
Adams, Katherine;
Swaroop, Anand;
Wolf, Bethany Jacobs

Publication type:

Article

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

Published in:

Molecular Vision, 2016, v. 22, p. 1

By:

Yu Chen, Holly;
Kay, Koray Dogan;
Lijin Dong;
Swaroop, Anand

Publication type:

Article

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

Published in:

Molecular Vision, 2016, v. 22, p. 1

By:

Rueda, Elda M.;
Johnson Jr., Jerry E.;
Giddabasappa, Anand;
Swaroop, Anand;
Brooks, Matthew J.;
Sigel, Irena;
Chaney, Shawnta Y.;
Fox, Donald A.

Publication type:

Article

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Published in:

Human Mutation, 2015, v. 36, n. 9, p. 836, doi. 10.1002/humu.22822

By:

Lazar, Csilla H.;
Kimchi, Adva;
Namburi, Prasanthi;
Mutsuddi, Mousumi;
Zelinger, Lina;
Beryozkin, Avigail;
Ben‐Simhon, Shiran;
Obolensky, Alexey;
Ben‐Neriah, Ziva;
Argov, Zohar;
Pikarsky, Eli;
Fellig, Yakov;
Marks‐Ohana, Devorah;
Ratnapriya, Rinki;
Banin, Eyal;
Sharon, Dror;
Swaroop, Anand

Publication type:

Article

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. E1472, doi. 10.1002/humu.21268

By:

Nichols, Lorenzo L.;
Alur, Ramakrishna P.;
Boobalan, Elangovan;
Sergeev, Yuri V.;
Caruso, Rafael C.;
Stone, Edwin M.;
Swaroop, Anand;
Johnson, Mary A.;
Brooks, Brian P.

Publication type:

Article