PubRank

Detlev Schindler

Author PubWeight™ 95.69‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 2010 5.48
2 Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2006 5.12
3 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 2005 4.13
4 Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008 4.04
5 SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. Nat Genet 2011 3.74
6 Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet 2010 3.57
7 Identification of the Fanconi anemia complementation group I gene, FANCI. Cell Oncol 2007 2.50
8 A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability. Mol Cell 2010 2.36
9 Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet 2013 2.15
10 FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. EMBO J 2007 2.00
11 Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet 2007 1.67
12 Genotype-phenotype correlations in Fanconi anemia. Mutat Res 2009 1.65
13 Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability. EMBO J 2007 1.65
14 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet 2009 1.54
15 A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. Mol Ther 2005 1.48
16 Delayed diagnosis and complications of Fanconi anaemia at advanced age--a paradigm. Br J Haematol 2006 1.48
17 A novel approach to describe a U1 snRNA binding site. Nucleic Acids Res 2003 1.35
18 A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol 2006 1.31
19 A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network. J Med Genet 2006 1.30
20 Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 2007 1.24
21 Roles of brca2 (fancd1) in oocyte nuclear architecture, gametogenesis, gonad tumors, and genome stability in zebrafish. PLoS Genet 2011 1.22
22 Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. Cell Cycle 2006 1.20
23 A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network. Mol Cell 2012 1.19
24 Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. Blood 2011 1.18
25 The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat 2005 1.13
26 Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. Am J Hum Genet 2002 1.12
27 Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia. Carcinogenesis 2002 1.10
28 On the role of FAN1 in Fanconi anemia. Blood 2012 1.07
29 A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood 2004 1.05
30 Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. PLoS One 2010 1.04
31 Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. Orphanet J Rare Dis 2007 1.02
32 Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. Hum Mutat 2012 1.01
33 Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs. Am J Hum Genet 2010 1.01
34 MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II. J Cell Biol 2011 1.00
35 A role for the Fanconi anemia C protein in maintaining the DNA damage-induced G2 checkpoint. J Biol Chem 2004 0.99
36 A recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma. Blood 2014 0.98
37 ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control. J Biol Chem 2011 0.98
38 SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11. Oncogene 2002 0.98
39 Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy. Strahlenther Onkol 2003 0.98
40 Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. Breast Cancer Res Treat 2011 0.97
41 Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation. Orphanet J Rare Dis 2013 0.96
42 Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. Hum Mol Genet 2012 0.94
43 Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle 2011 0.94
44 Lack of sensitivity of primary Fanconi's anemia fibroblasts to UV and ionizing radiation. Radiat Res 2004 0.92
45 Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges. PLoS One 2012 0.92
46 The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4. Hum Mol Genet 2012 0.89
47 Visualization of local DNA unwinding by Mre11/Rad50/Nbs1 using single-molecule FRET. Proc Natl Acad Sci U S A 2013 0.89
48 Treatment of the bone marrow failure in Fanconi anemia patients with danazol. Blood Cells Mol Dis 2011 0.89
49 Fanconi anemia core complex gene promoters harbor conserved transcription regulatory elements. PLoS One 2011 0.88
50 Inhibition of primordial germ cell proliferation by the medaka male determining gene Dmrt I bY. BMC Dev Biol 2007 0.87
51 MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrest. Cell Cycle 2010 0.86
52 Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases. J Lipid Res 2002 0.86
53 Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. BMC Cancer 2012 0.86
54 Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents. Mol Cancer 2010 0.86
55 New mutations in the ATM gene and clinical data of 25 AT patients. Neurogenetics 2011 0.85
56 Prenatal exclusion/confirmation of Fanconi anemia via flow cytometry: a pilot study. Fetal Diagn Ther 2006 0.84
57 Fanconi anemia proteins interact with CtBP1 and modulate the expression of the Wnt antagonist Dickkopf-1. Blood 2013 0.84
58 Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. Acta Paediatr 2011 0.84
59 Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes. Cell Cycle 2015 0.84
60 Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair. Blood 2010 0.83
61 Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. Hum Mutat 2010 0.83
62 Fanconi anemia in a neonate with pancytopenia. J Pediatr 2004 0.82
63 A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells. PLoS One 2012 0.81
64 A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma. Cancer Genet Cytogenet 2006 0.80
65 High incidence of Fanconi anaemia in patients with a morphological picture consistent with refractory cytopenia of childhood. Br J Haematol 2012 0.79
66 Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia: A case report. Hepatol Res 2013 0.79
67 Exploring the link between MORF4L1 and risk of breast cancer. Breast Cancer Res 2011 0.79
68 Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention. Br J Haematol 2014 0.78
69 Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay. Environ Mol Mutagen 2006 0.77
70 A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. Eur J Med Genet 2011 0.77
71 Protective role of RAD50 on chromatin bridges during abnormal cytokinesis. FASEB J 2013 0.76
72 Neoplasia, ageing, and genetic instability due to defective caretaker genes. Cell Oncol 2008 0.75
73 Decreased platelet reactivity identified by whole blood flow cytometry in Fanconi anaemia patients. Thromb Haemost 2007 0.75
74 Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing. Eur J Pediatr 2006 0.75
75 Fanconi anaemia - response to Manoharan. Br J Haematol 2006 0.75
76 X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. Clin Dysmorphol 2016 0.75