PubRank

S Halford

Author PubWeight™ 25.15‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 1992 2.70
2 Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 2004 1.99
3 SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway. Proc Natl Acad Sci U S A 2001 1.65
4 Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics 1993 1.55
5 Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. Hum Genet 1993 1.51
6 Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene. Genomics 1991 1.48
7 Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. Am J Hum Genet 1996 1.31
8 Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. Genomics 1997 1.24
9 Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet 1993 1.11
10 Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes. Diabetologia 2005 1.11
11 Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). J Med Genet 1993 1.08
12 Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum Mol Genet 1995 1.03
13 Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples. Diabet Med 2005 1.01
14 Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome. Hum Mol Genet 1997 0.99
15 Adjuvant mitozantrone chemotherapy in advanced prostate cancer. BJU Int 2000 0.94
16 CDX2 mutations do not account for juvenile polyposis or Peutz-Jeghers syndrome and occur infrequently in sporadic colorectal cancers. Br J Cancer 2001 0.88
17 A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis. Genomics 1990 0.85
18 Most low-level microsatellite instability in colorectal cancers can be explained without an elevated slippage rate. J Pathol 2008 0.85
19 In patients with head injuries who undergo rapid sequence intubation using succinylcholine, does pretreatment with a competitive neuromuscular blocking agent improve outcome? A literature review. Emerg Med J 2001 0.77
20 Successful targeting of the mouse cystic fibrosis transmembrane conductance regulator gene in embryonal stem cells. Transgenic Res 1992 0.76
21 Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3. Cytogenet Genome Res 2005 0.76
22 Feminist change in a patriarchal organisation: the experience of women's initiatives in local government and implications for feminist perspectives on state institutions. Sociol Rev Monogr 1992 0.75
23 Assignment of BCL2L11 to human chromosome band 2p13 with somatic cell and radiation hybrids. Cytogenet Cell Genet 2001 0.75
24 Mapping of the Tuple1 gene to mouse chromosome 16A-B1. Genomics 1994 0.75
25 Geographies of opportunity: a regional analysis of gender-specific social and spatial mobilities in England and Wales, 1971-81. Environ Plan A 1993 0.75