PubRank

Edgar A Otto

Author PubWeight™ 89.64‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006 5.36
2 Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 2006 5.29
3 Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011 3.95
4 In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 2006 3.90
5 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010 3.66
6 A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet 2011 3.57
7 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 2009 3.36
8 A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet 2009 3.06
9 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011 3.06
10 FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nat Genet 2012 2.74
11 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet 2008 2.68
12 Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 2008 2.65
13 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012 2.54
14 SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A 2004 2.41
15 High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet 2012 2.04
16 Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol 2007 1.97
17 Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet 2013 1.90
18 AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet 2010 1.89
19 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 2013 1.74
20 KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest 2015 1.69
21 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet 2013 1.69
22 Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. J Med Genet 2007 1.56
23 Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. J Am Soc Nephrol 2013 1.52
24 ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest 2013 1.52
25 Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 2007 1.52
26 Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet 2013 1.51
27 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet 2013 1.32
28 Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. J Am Soc Nephrol 2011 1.30
29 Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum Mol Genet 2008 1.26
30 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet 2013 1.24
31 Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol 2005 1.22
32 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int 2011 1.21
33 Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest 2010 1.20
34 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 2010 1.19
35 Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet 2013 1.19
36 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 2014 1.14
37 Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. Kidney Int 2011 1.07
38 Retinitis pigmentosa and renal failure in a patient with mutations in INVS. Nephrol Dial Transplant 2006 1.02
39 Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans. J Am Soc Nephrol 2005 1.02
40 A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet A 2009 0.90
41 Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet 2006 0.87
42 Mutational analysis in 119 families with nephronophthisis. Pediatr Nephrol 2006 0.87
43 Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. Nephrol Dial Transplant 2009 0.86
44 Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. Saudi J Kidney Dis Transpl 2012 0.83
45 Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). Pediatr Nephrol 2008 0.81
46 Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion. Pediatr Nephrol 2011 0.80
47 Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient. Pediatr Nephrol 2010 0.77
48 Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. Pediatr Nephrol 2010 0.76
49 Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet 2017 0.75
50 Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation. Am J Med Genet A 2013 0.75