| Year |
Citation |
Score |
| 2016 |
Sidjanin DJ, Park AK, Ronchetti A, Martins J, Jackson WT. TBC1D20 mediates autophagy as a key regulator of autophagosome maturation. Autophagy. 1-17. PMID 27487390 DOI: 10.1080/15548627.2016.1199300 |
0.427 |
|
| 2016 |
Toonen JA, Ronchetti A, Sidjanin DJ. A Disintegrin and Metalloproteinase10 (ADAM10) Regulates NOTCH Signaling during Early Retinal Development. Plos One. 11: e0156184. PMID 27224017 DOI: 10.1371/Journal.Pone.0156184 |
0.61 |
|
| 2015 |
Handley MT, Carpanini SM, Mali GR, Sidjanin DJ, Aligianis IA, Jackson IJ, FitzPatrick DR. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. Open Biology. 5: 150047. PMID 26063829 DOI: 10.1098/Rsob.150047 |
0.365 |
|
| 2014 |
Park AK, Liegel RP, Ronchetti A, Ebert AD, Geurts A, Sidjanin DJ. Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice. Bmc Genetics. 15: 135. PMID 25476608 DOI: 10.1186/S12863-014-0135-2 |
0.518 |
|
| 2014 |
Liegel RP, Ronchetti A, Sidjanin DJ. Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome. Molecular Genetics and Metabolism Reports. 1: 299-311. PMID 25197626 DOI: 10.1016/J.Ymgmr.2014.06.003 |
0.451 |
|
| 2013 |
Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, ... ... Sidjanin DJ, et al. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. American Journal of Human Genetics. 93: 1001-14. PMID 24239381 DOI: 10.1016/J.Ajhg.2013.10.011 |
0.5 |
|
| 2013 |
Merath K, Ronchetti A, Sidjanin DJ. Functional analysis of HSF4 mutations found in patients with autosomal recessive congenital cataracts. Investigative Ophthalmology & Visual Science. 54: 6646-54. PMID 24045990 DOI: 10.1167/Iovs.13-12283 |
0.367 |
|
| 2013 |
Hassemer EL, Endres B, Toonen JA, Ronchetti A, Dubielzig R, Sidjanin DJ. ADAM17 transactivates EGFR signaling during embryonic eyelid closure. Investigative Ophthalmology & Visual Science. 54: 132-40. PMID 23211830 DOI: 10.1167/Iovs.12-11130 |
0.627 |
|
| 2012 |
Toonen J, Liang L, Sidjanin DJ. Waved with open eyelids 2 (woe2) is a novel spontaneous mouse mutation in the protein phosphatase 1, regulatory (inhibitor) subunit 13 like (Ppp1r13l) gene. Bmc Genetics. 13: 76. PMID 22928477 DOI: 10.1186/1471-2156-13-76 |
0.633 |
|
| 2011 |
Liang L, Liegel R, Endres B, Ronchetti A, Chang B, Sidjanin DJ. Functional analysis of the Hsf4(lop11) allele responsible for cataracts in lop11 mice. Molecular Vision. 17: 3062-71. PMID 22162625 |
0.316 |
|
| 2011 |
Merath KM, Chang B, Dubielzig R, Jeannotte R, Sidjanin DJ. A spontaneous mutation in Srebf2 leads to cataracts and persistent skin wounds in the lens opacity 13 (lop13) mouse. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 22: 661-73. PMID 21858719 DOI: 10.1007/S00335-011-9354-2 |
0.463 |
|
| 2011 |
Liegel R, Chang B, Dubielzig R, Sidjanin DJ. Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice. Molecular Genetics and Metabolism. 103: 51-9. PMID 21353609 DOI: 10.1016/J.Ymgme.2011.02.002 |
0.491 |
|
| 2010 |
Hassemer EL, Le Gall SM, Liegel R, McNally M, Chang B, Zeiss CJ, Dubielzig RD, Horiuchi K, Kimura T, Okada Y, Blobel CP, Sidjanin DJ. The waved with open eyelids (woe) locus is a hypomorphic mouse mutation in Adam17. Genetics. 185: 245-55. PMID 20194968 DOI: 10.1534/Genetics.109.113167 |
0.495 |
|
| 2009 |
Kim JE, Ruttum MS, Koeberl MJ, Hassemer EL, Sidjanin DJ. Genetic and clinical evaluation of juvenile retinoschisis. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 13: 215-7. PMID 19393523 DOI: 10.1016/J.Jaapos.2008.11.005 |
0.381 |
|
| 2007 |
Iannaccone A, Gallaher KT, Buchholz J, Jennings BJ, Neitz M, Sidjanin DJ. Identification of two novel mutations in families with X-linked ocular albinism. Molecular Vision. 13: 1856-61. PMID 17960122 |
0.323 |
|
| 2006 |
Goldstein O, Zangerl B, Pearce-Kelling S, Sidjanin DJ, Kijas JW, Felix J, Acland GM, Aguirre GD. Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics. 88: 541-50. PMID 16859891 DOI: 10.1016/J.Ygeno.2006.05.013 |
0.315 |
|
| 2006 |
Talamas E, Jackson L, Koeberl M, Jackson T, McElwee JL, Hawes NL, Chang B, Jablonski MM, Sidjanin DJ. Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice. Genomics. 88: 44-51. PMID 16595169 DOI: 10.1016/J.Ygeno.2006.02.012 |
0.503 |
|
| 2005 |
Sidjanin DJ, McElwee J, Miller B, Aguirre GD. Cloning of canine galactokinase (GALK1) and evaluation as a candidate gene for hereditary cataracts in Labrador retrievers. Animal Genetics. 36: 265-6. PMID 15932415 DOI: 10.1111/J.1365-2052.2005.01275.X |
0.336 |
|
| 2002 |
Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Human Molecular Genetics. 11: 1823-33. PMID 12140185 DOI: 10.1093/Hmg/11.16.1823 |
0.359 |
|
| 2001 |
Sidjanin DJ, Parker-Wilson DM, Neuhäuser-Klaus A, Pretsch W, Favor J, Deen PM, Ohtaka-Maruyama C, Lu Y, Bragin A, Skach WR, Chepelinsky AB, Grimes PA, Stambolian DE. A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice. Genomics. 74: 313-9. PMID 11414759 DOI: 10.1006/geno.2001.6509 |
0.363 |
|
| 1997 |
Sidjanin DJ, Grimes PA, Pretsch W, Neuhäuser-Klaus A, Favor J, Stambolian DE. Mapping of the autosomal dominant cataract mutation (Coc) on mouse chromosome 16. Investigative Ophthalmology & Visual Science. 38: 2502-7. PMID 9375568 |
0.336 |
|
| 1997 |
Zhou E, Grimes P, Favor J, Koeberlein B, Pretsch W, Neuhauser-Klaus A, Sidjanin D, Stambolian D. Genetic mapping of a mouse ocular malformation locus, Tcm, to Chromosome 4 Mammalian Genome. 8: 178-181. PMID 9069117 DOI: 10.1007/s003359900385 |
0.397 |
|
| 1995 |
Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts Nature Genetics. 10: 307-312. PMID 7670469 DOI: 10.1038/ng0795-307 |
0.344 |
|
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