PubRank

P Boisseau

Author PubWeight™ 8.31‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001 2.65
2 Dynamic analysis of the QT interval in long QT1 syndrome patients with a normal phenotype. Eur Heart J 2001 1.37
3 Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation. J Med Genet 2009 1.09
4 The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009 0.96
5 Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. J Thromb Haemost 2007 0.85
6 Evaluation of denaturing high-performance liquid chromatography (DHPLC) in the screening of mutations in hemophilia B patients. J Thromb Haemost 2004 0.77
7 Glucanex: a cost-effective yeast lytic enzyme. Trends Genet 1994 0.76
8 Respiratory epithelial ion transport in patients with disseminated bronchiectasis. Eur Respir J 1999 0.76
9 [Severe rheumatoid purpura in a 9-year-old boy. Repeated convulsive crises. Hemorrhagic necrosis and perforations of the iliac colon; segmental resection; healing. Histologic study of colonic arteriolar lesions]. Pediatrie 1969 0.75
10 Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. J Thromb Haemost 2011 0.75
11 Seeding of YACs over regions 1q41-q42.3 and 11q14.3-q23 with microdissection clones. Eur J Hum Genet 1995 0.75
12 Refined localisation of the voltage-gated chloride channel, CLCN3, to 4q33. Hum Genet 1998 0.75
13 A YAC contig encompassing the 11q14.3 breakpoint of a translocation associated with schizophrenia, and including the tyrosinase gene. Mamm Genome 1999 0.75
14 A faster strategy for prenatal diagnosis of fragile X syndrome. Prenat Diagn 2010 0.75
15 Protease-activated receptor genes are clustered on 5q13. Blood 1998 0.75