| Year |
Citation |
Score |
| 2014 |
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, et al. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human Molecular Genetics. 23: 5827-37. PMID 24899048 DOI: 10.1093/Hmg/Ddu276 |
0.405 |
|
| 2013 |
Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GH, Sim X, Weeks DE, Guymer RH, ... ... Friedman JS, et al. Seven new loci associated with age-related macular degeneration. Nature Genetics. 45: 433-9, 439e1-2. PMID 23455636 DOI: 10.1038/Ng.2578 |
0.334 |
|
| 2010 |
Friedman JS, Chang B, Krauth DS, Lopez I, Waseem NH, Hurd RE, Feathers KL, Branham KE, Shaw M, Thomas GE, Brooks MJ, Liu C, Bakeri HA, Campos MM, Maubaret C, et al. Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. Proceedings of the National Academy of Sciences of the United States of America. 107: 15523-8. PMID 20713727 DOI: 10.1073/Pnas.1002897107 |
0.463 |
|
| 2010 |
Hugosson T, Friedman JS, Ponjavic V, Abrahamson M, Swaroop A, Andréasson S. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 128: 772-8. PMID 20547956 DOI: 10.1001/Archophthalmol.2010.98 |
0.444 |
|
| 2010 |
Permanyer J, Navarro R, Friedman J, Pomares E, Castro-Navarro J, Marfany G, Swaroop A, Gonzàlez-Duarte R. Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1. Investigative Ophthalmology & Visual Science. 51: 2656-63. PMID 20042663 DOI: 10.1167/Iovs.09-4857 |
0.432 |
|
| 2009 |
Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, et al. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics. 84: 792-800. PMID 19520207 DOI: 10.1016/J.Ajhg.2009.05.007 |
0.462 |
|
| 2009 |
Kukekova AV, Goldstein O, Johnson JL, Richardson MA, Pearce-Kelling SE, Swaroop A, Friedman JS, Aguirre GD, Acland GM. Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 20: 109-23. PMID 19130129 DOI: 10.1007/S00335-008-9163-4 |
0.373 |
|
| 2007 |
Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, et al. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. American Journal of Human Genetics. 81: 1098-103. PMID 17924349 DOI: 10.1086/521953 |
0.497 |
|
| 2007 |
Kanda A, Friedman JS, Nishiguchi KM, Swaroop A. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. Human Mutation. 28: 589-98. PMID 17335001 DOI: 10.1002/Humu.20488 |
0.341 |
|
| 2007 |
Merienne K, Friedman J, Akimoto M, Abou-Sleymane G, Weber C, Swaroop A, Trottier Y. Preventing polyglutamine-induced activation of c-Jun delays neuronal dysfunction in a mouse model of SCA7 retinopathy. Neurobiology of Disease. 25: 571-81. PMID 17189700 DOI: 10.1016/J.Nbd.2006.11.002 |
0.358 |
|
| 2006 |
Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, et al. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. American Journal of Human Genetics. 79: 1059-70. PMID 17186464 DOI: 10.1086/510021 |
0.471 |
|
| 2006 |
Khanna H, Akimoto M, Siffroi-Fernandez S, Friedman JS, Hicks D, Swaroop A. Retinoic acid regulates the expression of photoreceptor transcription factor NRL. The Journal of Biological Chemistry. 281: 27327-34. PMID 16854989 DOI: 10.1074/Jbc.M605500200 |
0.304 |
|
| 2004 |
Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP. Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proceedings of the National Academy of Sciences of the United States of America. 101: 17819-24. PMID 15591106 DOI: 10.1073/Pnas.0408183101 |
0.426 |
|
| 2004 |
Friedman JS, Khanna H, Swain PK, Denicola R, Cheng H, Mitton KP, Weber CH, Hicks D, Swaroop A. The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein. The Journal of Biological Chemistry. 279: 47233-41. PMID 15328344 DOI: 10.1074/Jbc.M408298200 |
0.344 |
|
| 2004 |
Yu J, He S, Friedman JS, Akimoto M, Ghosh D, Mears AJ, Hicks D, Swaroop A. Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays. The Journal of Biological Chemistry. 279: 42211-20. PMID 15292180 DOI: 10.1074/Jbc.M408223200 |
0.41 |
|
| 2004 |
Yoshida S, Mears AJ, Friedman JS, Carter T, He S, Oh E, Jing Y, Farjo R, Fleury G, Barlow C, Hero AO, Swaroop A. Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl. Human Molecular Genetics. 13: 1487-503. PMID 15163632 DOI: 10.1093/Hmg/Ddh160 |
0.436 |
|
| 2002 |
Friedman JS, Faucher M, Hiscott P, Biron VL, Malenfant M, Turcotte P, Raymond V, Walter MA. Protein localization in the human eye and genetic screen of opticin. Human Molecular Genetics. 11: 1333-42. PMID 12019215 DOI: 10.1093/Hmg/11.11.1333 |
0.503 |
|
| 2002 |
Friedman JS, Walter MA. Biomedicine. Under pressure. Science (New York, N.Y.). 295: 983-4. PMID 11834805 DOI: 10.1126/Science.1069950 |
0.363 |
|
| 2001 |
Friedman JS, Koop BF, Raymond V, Walter MA. Isolation of a ubiquitin-like (UBL5) gene from a screen identifying highly expressed and conserved iris genes. Genomics. 71: 252-5. PMID 11161819 DOI: 10.1006/Geno.2000.6439 |
0.391 |
|
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