| Year |
Citation |
Score |
| 2013 |
Vlangos CN, Siuniak AN, Robinson D, Chinnaiyan AM, Lyons RH, Cavalcoli JD, Keegan CE. Next-generation sequencing identifies the Danforth's short tail mouse mutation as a retrotransposon insertion affecting Ptf1a expression. Plos Genetics. 9: e1003205. PMID 23437000 DOI: 10.1371/Journal.Pgen.1003205 |
0.496 |
|
| 2011 |
Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, ... ... Vlangos CN, et al. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. The Journal of Clinical Investigation. 121: 2013-24. PMID 21540551 DOI: 10.1172/JCI45693 |
0.382 |
|
| 2011 |
Vlangos CN, Siuniak A, Ackley T, van Bokhoven H, Veltman J, Iyer R, Park JM, Keppler-Noreuil K, Keegan CE. Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication. American Journal of Medical Genetics. Part A. 155: 38-49. PMID 21204209 DOI: 10.1002/Ajmg.A.33757 |
0.383 |
|
| 2010 |
Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, et al. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 25: 2970-6. PMID 20172850 DOI: 10.1093/Ndt/Gfq088 |
0.491 |
|
| 2009 |
Heeringa SF, Möller CC, Du J, Yue L, Hinkes B, Chernin G, Vlangos CN, Hoyer PF, Reiser J, Hildebrandt F. A novel TRPC6 mutation that causes childhood FSGS. Plos One. 4: e7771. PMID 19936226 DOI: 10.1371/Journal.Pone.0007771 |
0.316 |
|
| 2009 |
Vlangos CN, O'Connor BC, Morley MJ, Krause AS, Osawa GA, Keegan CE. Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis Developmental Biology. 334: 418-428. PMID 19660449 DOI: 10.1016/J.Ydbio.2009.07.038 |
0.445 |
|
| 2009 |
Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, et al. A systematic approach to mapping recessive disease genes in individuals from outbred populations. Plos Genetics. 5: e1000353. PMID 19165332 DOI: 10.1371/Journal.Pgen.1000353 |
0.399 |
|
| 2008 |
Chernin G, Heeringa SF, Gbadegesin R, Liu J, Hinkes BG, Vlangos CN, Vega-Warner V, Hildebrandt F. Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatric Nephrology (Berlin, Germany). 23: 1455-60. PMID 18543005 DOI: 10.1007/S00467-008-0861-7 |
0.393 |
|
| 2008 |
Heeringa SF, Vlangos CN, Chernin G, Hinkes B, Gbadegesin R, Liu J, Hoskins BE, Ozaltin F, Hildebrandt F, Noyan A, Bakkaloglu A, Spranger S, Briese S, Müller D, Querfeld U, et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome Nephrology Dialysis Transplantation. 23: 3527-3533. PMID 18503012 DOI: 10.1093/Ndt/Gfn271 |
0.451 |
|
| 2008 |
Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith AC, Bunyan DJ, Roffey PE, Blanchard CL, Elsea SH. Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. Genetic Testing. 12: 67-73. PMID 18373405 DOI: 10.1089/Gte.2007.0058 |
0.737 |
|
| 2008 |
Girirajan S, Hauck PM, Williams S, Vlangos CN, Szomju BB, Solaymani-Kohal S, Mosier PD, White KL, McCoy K, Elsea SH. Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 19: 246-62. PMID 18343975 DOI: 10.1007/S00335-008-9100-6 |
0.652 |
|
| 2008 |
Hinkes B, Vlangos C, Heeringa S, Mucha B, Gbadegesin R, Liu J, Hasselbacher K, Ozaltin F, Hildebrandt F. Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome Journal of the American Society of Nephrology. 19: 365-371. PMID 18216321 DOI: 10.1681/Asn.2007040452 |
0.424 |
|
| 2008 |
Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, et al. Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association. 23: 1291-7. PMID 18065803 DOI: 10.1093/Ndt/Gfm759 |
0.487 |
|
| 2008 |
Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. A milder variant of Pierson syndrome. Pediatric Nephrology (Berlin, Germany). 23: 323-7. PMID 17943323 DOI: 10.1007/S00467-007-0624-X |
0.478 |
|
| 2007 |
Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH. Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). American Journal of Medical Genetics. Part A. 143: 999-1008. PMID 17431895 DOI: 10.1002/Ajmg.A.31689 |
0.745 |
|
| 2007 |
Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics. 119: e907-19. PMID 17371932 DOI: 10.1542/Peds.2006-2164 |
0.478 |
|
| 2007 |
Gbadegesin R, Hinkes B, Vlangos C, Mucha B, Liu J, Hopcian J, Hildebrandt F. Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatric Nephrology. 22: 509-513. PMID 17216259 DOI: 10.1007/S00467-006-0377-Y |
0.407 |
|
| 2006 |
Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, et al. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nature Genetics. 38: 1397-405. PMID 17086182 DOI: 10.1038/Ng1918 |
0.498 |
|
| 2006 |
Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH. Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 8: 417-27. PMID 16845274 DOI: 10.1097/01.Gim.0000228215.32110.89 |
0.743 |
|
| 2005 |
Vlangos CN, Wilson M, Blancato J, Smith AC, Elsea SH. Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. American Journal of Medical Genetics. Part A. 132: 278-82. PMID 15690371 DOI: 10.1002/Ajmg.A.30461 |
0.716 |
|
| 2003 |
Vlangos CN, Yim DK, Elsea SH. Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? Molecular Genetics and Metabolism. 79: 134-41. PMID 12809645 DOI: 10.1016/S1096-7192(03)00048-9 |
0.714 |
|
| 2003 |
Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. Mutations in RAI1 associated with Smith-Magenis syndrome. Nature Genetics. 33: 466-8. PMID 12652298 DOI: 10.1038/Ng1126 |
0.725 |
|
| 2001 |
Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH. Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. European Journal of Human Genetics : Ejhg. 9: 892-902. PMID 11840190 DOI: 10.1038/Sj.Ejhg.5200734 |
0.698 |
|
| 2000 |
Vlangos CN, Das P, Patel PI, Elsea SH. Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval. Cytogenetics and Cell Genetics. 88: 283-5. PMID 10828610 DOI: 10.1159/000015539 |
0.681 |
|
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