PubRank

Thierry Frebourg

Author PubWeight™ 70.21‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2005 7.66
2 Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature 2008 5.32
3 Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. J Natl Cancer Inst 2007 2.77
4 Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005 2.59
5 Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain 2013 2.02
6 Phenotype associated with APP duplication in five families. Brain 2006 1.83
7 Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat 2002 1.66
8 Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. J Clin Oncol 2009 1.62
9 Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Hum Mutat 2012 1.61
10 TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. J Alzheimers Dis 2013 1.57
11 Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum Mol Genet 2006 1.50
12 MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 2002 1.41
13 Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers. Eur J Hum Genet 2011 1.21
14 The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet A 2006 1.15
15 Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol 2010 1.12
16 Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. Cancer Genet 2012 1.04
17 The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. J Alzheimers Dis 2012 1.03
18 Association study of the GAB2 gene with the risk of developing Alzheimer's disease. Neurobiol Dis 2008 1.03
19 Polymorphisms of insulin degrading enzyme gene are not associated with Alzheimer's disease. Neurosci Lett 2002 1.00
20 Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques. Hum Mutat 2006 0.97
21 Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat 2011 0.96
22 Prognostic value of circulating mutant DNA in unresectable metastatic colorectal cancer. Ann Surg 2010 0.94
23 Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet 2006 0.93
24 Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients. Hum Mutat 2013 0.91
25 Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases. Acta Neuropathol 2013 0.91
26 Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification. Neurogenetics 2014 0.91
27 Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg). Am J Med Genet A 2006 0.89
28 Performance and cost efficiency of KRAS mutation testing for metastatic colorectal cancer in routine diagnosis: the MOKAECM study, a nationwide experience. PLoS One 2013 0.86
29 The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences. Hum Mutat 2005 0.86
30 Clinical and biochemical heterogeneity associated with fumarase deficiency. Hum Mutat 2011 0.86
31 Is the saitohin gene involved in neurodegenerative diseases? Ann Neurol 2002 0.85
32 Frontotemporal dementia phenotype associated with MAPT gene duplication. J Alzheimers Dis 2010 0.85
33 A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Brain 2004 0.84
34 An information-theoretic analysis of genetics, gender and age in cancer patients. PLoS One 2008 0.83
35 Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy. Hum Genet 2008 0.81
36 Amyloid-β protein precursor gene expression in alzheimer's disease and other conditions. J Alzheimers Dis 2012 0.81
37 Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation. Eur J Hum Genet 2005 0.80
38 Type I hyperprolinemia: genotype/phenotype correlations. Hum Mutat 2010 0.80
39 Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments. Clin Chem 2008 0.80
40 Partial deletion of the MAPT gene: a novel mechanism of FTDP-17. Hum Mutat 2009 0.80
41 Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours. Eur J Hum Genet 2013 0.80
42 Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. Am J Med Genet B Neuropsychiatr Genet 2003 0.79
43 A simple method for the routine detection of somatic quantitative genetic alterations in colorectal cancer. Gastroenterology 2006 0.79
44 No replication of the association between the Nicastrin gene and familial early-onset Alzheimer's disease. Neurosci Lett 2003 0.79
45 Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer. Eur J Hum Genet 2007 0.79
46 Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. Am J Med Genet A 2010 0.79
47 Genetic variations of the A13/A14 repeat located within the EGFR 3' untranslated region have no oncogenic effect in patients with colorectal cancer. BMC Cancer 2013 0.78
48 [Juvenile polyposis coli. The usefulness of a genetic study and the role of surgical treatment]. Gastroenterol Clin Biol 2002 0.78
49 Diversity of the clinical presentation of the MMR gene biallelic mutations. Fam Cancer 2014 0.78
50 Prognostic value of TP53 transcriptional activity on p21 and bax in patients with esophageal squamous cell carcinomas treated by definitive chemoradiotherapy. Int J Radiat Oncol Biol Phys 2002 0.78
51 Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus. Neurogenetics 2012 0.78
52 Detection of somatic quantitative genetic alterations by multiplex polymerase chain reaction for the prediction of outcome in diffuse large B-cell lymphomas. Haematologica 2008 0.76
53 Germline mutations of inhibins in early-onset ovarian epithelial tumors. Hum Mutat 2013 0.76
54 A risk for early-onset Alzheimer's disease associated with the APBB1 gene (FE65) intron 13 polymorphism. Neurosci Lett 2003 0.76
55 Direct-to-consumer genetic testing services: what are the medical benefits? Eur J Hum Genet 2012 0.75
56 Re: DNA microarray expression profiling of bladder cancer allows identification of noninvasive diagnostic markers L. Mengual, M. Burset, E. Ars, J. J. Lozano, H. Villavicencio, M. J. Ribal And A. Alcaraz J Urol 2009; 182: 741-748. J Urol 2010 0.75
57 No pathogenic rearrangement within the DISC 1 gene in psychosis. Am J Med Genet B Neuropsychiatr Genet 2009 0.75
58 Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro. Gastroenterol Clin Biol 2005 0.75
59 CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. Am J Med Genet A 2013 0.75
60 [Recent advances for the identification and screening of Lynch syndrome]. Gastroenterol Clin Biol 2007 0.75