PubRank

B Royer-Pokora

Author PubWeight™ 58.84‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature 1986 6.34
2 Defectiveness of avian erythroblastosis virus: synthesis of a 75K gag-related protein. Virology 1979 2.87
3 Plasmids controlling synthesis of hemolysin in Escherichia coli: molecular properties. J Bacteriol 1974 2.71
4 Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int 2006 2.39
5 Evidence for the multiple oncogenic potential of cloned leukemia virus: in vitro and in vitro studies with avian erythroblastosis virus. Virology 1976 2.28
6 Transformation parameters in chicken fibroblasts transformed by AEV and MC29 avian leukemia viruses. Cell 1978 2.23
7 Use of exonuclease III to determine the site of stable lesions in defined sequences of DNA: the cyclobutane pyrimidine dimer and cis and trans dichlorodiammine platinum II examples. Nucleic Acids Res 1981 1.97
8 Isolation of UV-resistant revertants from a xeroderma pigmentosum complementation group A cell line. Nature 1984 1.44
9 Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 1994 1.36
10 Plasmids controlling synthesis of hemolysin in Escherichia coli. II. Polynucleotide sequence relationship among hemolytic plasmids. Mol Gen Genet 1976 1.36
11 Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int 1998 1.25
12 Par4 is a coactivator for a splice isoform-specific transcriptional activation domain in WT1. Genes Dev 2001 1.20
13 Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. Proc Natl Acad Sci U S A 1997 1.18
14 STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. J Med Genet 2005 1.15
15 A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia. Hum Genet 1996 1.06
16 Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2. Br J Cancer 2000 1.04
17 Ten novel mutations found in Aniridia. Hum Mutat 1998 1.03
18 Oncornavirus-induced sarcoma formation obscured by rapid development of lethal leukemia. Cancer Res 1977 1.03
19 Biological and biochemical characterization of an SV40-transformed xeroderma pigmentosum cell line. Exp Cell Res 1984 1.01
20 Comprehensive array CGH of normal karyotype myelodysplastic syndromes reveals hidden recurrent and individual genomic copy number alterations with prognostic relevance. Leukemia 2011 0.96
21 STK11 status and intussusception risk in Peutz-Jeghers syndrome. J Med Genet 2006 0.93
22 A single ancestral gene of the human LIM domain oncogene family LMO in Drosophila: characterization of the Drosophila Dlmo gene. Oncogene 1995 0.92
23 Mutant avian erythroblastosis virus with restricted target cell specificity. Nature 1979 0.91
24 Simultaneous occurrence of a t(9;22) (Ph) with a t(2;11) in a patient with CML and emergence of a new clone with the t(2;11) alone after imatinib mesylate treatment. Leukemia 2003 0.90
25 Recognition of HLA-A2 by cytotoxic T lymphocytes after DNA transfer into human and murine cells. Science 1984 0.90
26 Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes. J Med Genet 1998 0.90
27 Survival in nephroblastoma treated according to the trial and study SIOP-9/GPOH with respect to relapse and morbidity. Ann Oncol 2004 0.88
28 Tissue restricted expression and chromosomal localization of the YB-1 gene encoding a 42 kD nuclear CCAAT binding protein. Nucleic Acids Res 1992 0.88
29 Tumor specificity of acute avian leukemia viruses reflected by their transformation target cell specificity in vitro. Med Microbiol Immunol 1977 0.87
30 Characterization of the transcriptional regulatory region of the human WT1 gene. Oncogene 1993 0.86
31 Mutations of p53 in Wilms' tumors. Mod Pathol 1995 0.85
32 Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations. Hum Genet 1993 0.85
33 Analysis of native WT1 protein from frozen human kidney and Wilms' tumors. Oncogene 1999 0.85
34 RNA polymerase chain reaction detects different levels of four alternatively spliced WT1 transcripts in Wilms' tumors. Oncogene 1992 0.84
35 Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. Pediatr Res 1999 0.83
36 A novel post-transcriptional splicing form of the acute T cell leukemia proto-oncogene Lmo2. Sci China C Life Sci 2001 0.82
37 A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. Hum Genet 1998 0.81
38 Expression of resistance-related proteins in nephroblastoma after chemotherapy. Int J Cancer 1995 0.81
39 Determination of functional domains of the human transcription factor PAX8 responsible for its nuclear localization and transactivating potential. Eur J Biochem 1997 0.80
40 A novel transcript of the LMO2 gene, LMO2-c, is regulated by GATA-1 and PU.1 and encodes an antagonist of LMO2. Leukemia 2007 0.80
41 Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location. Cold Spring Harb Symp Quant Biol 1986 0.79
42 Gene expression profiling of Philadelphia chromosome (Ph)-negative CD34+ hematopoietic stem and progenitor cells of patients with Ph-positive CML in major molecular remission during therapy with imatinib. Leukemia 2005 0.79
43 The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin. Mol Hum Reprod 2000 0.79
44 In vitro transformation with avian myelocytomatosis virus strain CMII: characterization of the virus and its target cells. Virology 1977 0.77
45 Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy. J Pediatr 2001 0.77
46 SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism. Clin Genet 2004 0.77
47 DNA binding proteins present in guanidinium isothiocyanate lysates of cells are suitable for specific binding site blotting. Nucleic Acids Res 1989 0.76
48 Localization of the human CD59 gene by fluorescence in situ hybridization and pulsed-field gel electrophoresis. Cytogenet Cell Genet 1993 0.76
49 The tyrosine-kinase inhibitor imatinib induces long-term remission in a patient with chronic myelogenous leukemia with translocation t(4;22). Leukemia 2007 0.75
50 Genomic structure, alternative transcripts and chromosome location of the human LIM domain binding protein 1 gene LDB1. Cytogenet Cell Genet 1999 0.75
51 Target cells for transformation with avian leukosis viruses. Hamatol Bluttransfus 1976 0.75
52 New approaches to DNA damage and repair: the ultraviolet light example. Basic Life Sci 1982 0.75
53 Characterization of the hematopoietic target cells of defective avian leukemia viruses by velocity sedimentation and density gradient centrifugation analyses. Haematol Blood Transfus 1981 0.75