PubRank

Friedhelm Hildebrandt

Author PubWeight™ 211.84‹?›

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 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 2003 5.24
4 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002 4.64
5 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007 4.63
6 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 2003 4.14
7 Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010 3.99
8 Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011 3.95
9 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
10 HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res 2009 3.86
11 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet 2010 3.66
12 A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet 2011 3.57
13 Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 2004 3.55
14 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 2005 3.55
15 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 2007 3.39
16 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 2009 3.36
17 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011 3.06
18 Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie. Pediatr Nephrol 2008 2.92
19 FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nat Genet 2012 2.74
20 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet 2008 2.68
21 Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 2008 2.65
22 MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med 2011 2.65
23 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012 2.54
24 Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet 2007 2.46
25 Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res 2006 2.46
26 Centrosomes and cilia in human disease. Trends Genet 2011 2.42
27 SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A 2004 2.41
28 Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2002 2.40
29 NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol 2008 2.39
30 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet 2002 2.34
31 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 2011 2.21
32 Inducible podocyte injury and proteinuria in transgenic zebrafish. J Am Soc Nephrol 2012 2.10
33 Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2008 1.97
34 Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol 2007 1.97
35 Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol 2010 1.93
36 DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol 2012 1.93
37 Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum Mutat 2008 1.91
38 Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet 2013 1.90
39 AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet 2010 1.89
40 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 2010 1.76
41 Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science 2012 1.74
42 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest 2013 1.74
43 KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest 2015 1.69
44 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet 2013 1.69
45 Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 2010 1.67
46 Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. J Med Genet 2007 1.56
47 Characterization of mesonephric development and regeneration using transgenic zebrafish. Am J Physiol Renal Physiol 2010 1.55
48 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet 2012 1.54
49 Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. J Am Soc Nephrol 2013 1.52
50 ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest 2013 1.52
51 Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 2007 1.52
52 Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet 2013 1.51
53 A novel TRPC6 mutation that causes childhood FSGS. PLoS One 2009 1.47
54 Telomeric refinement of the MCKD1 locus on chromosome 1q21. Kidney Int 2004 1.46
55 Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 2007 1.46
56 Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int 2004 1.46
57 Mutations in FN1 cause glomerulopathy with fibronectin deposits. Proc Natl Acad Sci U S A 2008 1.37
58 Integrin α3 mutations with kidney, lung, and skin disease. N Engl J Med 2012 1.33
59 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet 2013 1.32
60 Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria. J Am Soc Nephrol 2011 1.30
61 Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2010 1.28
62 Nephronophthisis. Pediatr Nephrol 2010 1.28
63 Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum Mol Genet 2008 1.26
64 Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int 2008 1.24
65 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet 2013 1.24
66 Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol 2005 1.22
67 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int 2011 1.21
68 The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Hum Mol Genet 2010 1.20
69 Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest 2010 1.20
70 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Hum Mutat 2005 1.19
71 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet 2010 1.19
72 Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet 2013 1.19
73 Nephrocystin-3 is required for ciliary function in zebrafish embryos. Am J Physiol Renal Physiol 2010 1.17
74 Mechanisms of nephronophthisis and related ciliopathies. Nephron Exp Nephrol 2010 1.17
75 Spectrum of clinical diseases caused by disorders of primary cilia. Proc Am Thorac Soc 2011 1.15
76 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med 2014 1.14
77 Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis 2010 1.11
78 Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. Kidney Int 2003 1.11
79 Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol 2014 1.11
80 Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol 2011 1.10
81 Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Hum Mol Genet 2010 1.10
82 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
83 Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. Am J Hum Genet 2002 1.03
84 No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol 2004 1.03
85 Retinitis pigmentosa and renal failure in a patient with mutations in INVS. Nephrol Dial Transplant 2006 1.02
86 Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans. J Am Soc Nephrol 2005 1.02
87 Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis 2005 1.01
88 Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. Nephrol Dial Transplant 2007 1.00
89 Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 2002 0.97
90 Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis. Clin J Am Soc Nephrol 2006 0.95
91 Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant 2008 0.95
92 Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. J Am Soc Nephrol 2002 0.93
93 Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant 2010 0.92
94 Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 2008 0.92
95 Mutational analysis of NPHS2 and WT1 in frequently relapsing and steroid-dependent nephrotic syndrome. Pediatr Nephrol 2007 0.90
96 NPHS2 mutation associated with recurrence of proteinuria after transplantation. Pediatr Nephrol 2004 0.90
97 Molecular cloning and expression of phospholipase C epsilon 1 in zebrafish. Gene Expr Patterns 2009 0.90
98 A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet A 2009 0.90
99 Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract 2012 0.90
100 Medullary cystic kidney disease type 1 in a large Native-American kindred. Am J Kidney Dis 2004 0.88
101 Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3. Am J Physiol Renal Physiol 2007 0.88
102 Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet 2006 0.87
103 Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p. J Am Soc Nephrol 2003 0.87
104 Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency. Biochim Biophys Acta 2013 0.87
105 Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing. Kidney Int 2003 0.87
106 Mutational analysis in 119 families with nephronophthisis. Pediatr Nephrol 2006 0.87
107 Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene. Am J Kidney Dis 2004 0.87
108 Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. Am J Kidney Dis 2011 0.86
109 Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population data. Hum Mutat 2011 0.86
110 Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. Nephrol Dial Transplant 2009 0.86
111 Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol 2002 0.85
112 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. Hum Genet 2015 0.84
113 Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred. Nephrol Dial Transplant 2004 0.84
114 De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. Eur J Hum Genet 2013 0.84
115 Eye involvement in children with primary focal segmental glomerulosclerosis. Pediatr Nephrol 2007 0.84
116 Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. Saudi J Kidney Dis Transpl 2012 0.83
117 Phospholipase C epsilon (PLCε) induced TRPC6 activation: a common but redundant mechanism in primary podocytes. J Cell Physiol 2015 0.82
118 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am J Physiol Renal Physiol 2012 0.81
119 Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). Pediatr Nephrol 2008 0.81
120 Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct. Biochem Biophys Res Commun 2008 0.80
121 Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion. Pediatr Nephrol 2011 0.80
122 Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome. Pediatr Nephrol 2009 0.78
123 Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol Dial Transplant 2005 0.77
124 Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient. Pediatr Nephrol 2010 0.77
125 Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet 2016 0.76
126 Identification of the human CYS1 gene and candidate gene analysis in Boichis disease. Pediatr Nephrol 2003 0.76
127 Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 2017 0.75
128 Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. Pediatr Nephrol 2011 0.75
129 Gene mutation analysis in Iranian children with nephronophthisis: a two-center study. Iran J Kidney Dis 2015 0.75
130 A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. J Am Soc Nephrol 2003 0.75
131 The Case. Unusual cause of chronic renal failure with elevated liver enzymes. Kidney Int 2012 0.75
132 Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet 2017 0.75
133 Diverse phenotypic expression of NPHP4 mutations in four siblings. Turk J Pediatr 2015 0.75
134 Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. Am J Hum Genet 2017 0.75