PubRank

L Strain

Author PubWeight™ 27.95‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci U S A 1998 2.50
2 Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci U S A 1998 2.41
3 The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J Med Genet 2005 1.59
4 Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet 1994 1.38
5 Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation. Am J Transplant 2006 1.37
6 A novel atypical 22q11.2 distal deletion in father and son. J Med Genet 2002 1.27
7 Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. J Med Genet 1998 1.27
8 Cyclophosphamide treatment of mouse systemic lupus erythematosus. Lab Invest 1969 1.25
9 The normal population distribution of PRNP codon 129 polymorphism. Acta Neurol Scand 2003 1.13
10 Effect of diet on survival and nephropathy of NZB-NZW hybrid mice. Biochem Med 1973 1.04
11 Small inclusions in the cytoplasm of leukocytes in LE cell tests. J Rheumatol 1978 0.95
12 Population screening for fragile-X syndrome. Lancet 1993 0.94
13 Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13. Hum Genet 2000 0.93
14 Confirmation of prenatal diagnosis of cystic fibrosis by DNA typing of fetal tissues. J Med Genet 1988 0.90
15 Successful renal transplantation in factor H autoantibody associated HUS with CFHR1 and 3 deficiency and CFH variant G2850T. Am J Transplant 2009 0.88
16 Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene. Hum Genet 2000 0.85
17 Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder. J Med Genet 1997 0.82
18 Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus. J Med Genet 1996 0.81
19 Platelet-density analysis and intraplatelet granule content in young insulin-dependent diabetics. Diabetes 1986 0.81
20 Fragile X syndrome with FMR1 and FMR2 deletion. J Med Genet 1999 0.79
21 Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation. Am J Transplant 2012 0.79
22 L.E. cells after oral contraceptives. Lancet 1968 0.78
23 The development of atypical hemolytic uremic syndrome is not influenced by thrombophilia susceptibility factors. J Thromb Haemost 2005 0.78
24 Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family. J Neurol Neurosurg Psychiatry 2001 0.76
25 Failure of procainamide to induce a systemic lupus erythematosus-like disease in animals. Toxicol Appl Pharmacol 1972 0.76
26 Prenatal diagnosis of X-linked hydrocephalus. Prenat Diagn 1994 0.76
27 Risk calculation in retinitis pigmentosa. Am J Hum Genet 1991 0.75
28 Letter: SLE latex test kit. JAMA 1974 0.75
29 Comparison of LE cell tests. JAMA 1973 0.75
30 Genotyping of cystic fibrosis families with linked DNA probes. Clin Genet 1988 0.75
31 First-trimester prenatal diagnosis of cystic fibrosis using fibroblasts from a deceased index child to establish haplotypes. Prenat Diagn 1988 0.75
32 Prenatal diagnosis of cystic fibrosis where single affected child has died: Guthrie spots and microvillar enzyme testing. Lancet 1988 0.75
33 Reliability of a single beta-thromboglobulin measurement in a diabetic population: importance of PGE1 in anticoagulant mixture. Damad Study Group. Thromb Haemost 1987 0.75