M Farrall

Author PubWeight™ 118.07‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature 1987 7.88
2 Localization of cystic fibrosis locus to human chromosome 7cen-q22. Nature 1985 7.77
3 Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study. Am J Hum Genet 1986 3.83
4 Integrating case-control and TDT studies. Ann Hum Genet 2005 3.19
5 Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics 1987 3.03
6 Two-locus maximum lod score analysis of a multifactorial trait: joint consideration of IDDM2 and IDDM4 with IDDM1 in type 1 diabetes. Am J Hum Genet 1995 3.02
7 Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 1988 2.96
8 Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood 2000 2.95
9 Linkage of the angiotensinogen gene to essential hypertension. N Engl J Med 1994 2.80
10 Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum Mol Genet 1998 2.53
11 Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis. Nucleic Acids Res 1986 2.34
12 Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus. Nucleic Acids Res 1987 2.16
13 Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications. Lancet 1985 2.14
14 Predisposing locus for Alzheimer's disease on chromosome 21. Lancet 1989 1.99
15 Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. Proc Natl Acad Sci U S A 2001 1.96
16 Electrocardiographic measures of left ventricular hypertrophy show greater heritability than echocardiographic left ventricular mass. Eur Heart J 2002 1.89
17 Indirect cystic fibrosis carrier detection. Lancet 1987 1.76
18 Genome-wide association study of body mass index in 23 000 individuals with and without asthma. Clin Exp Allergy 2013 1.74
19 Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. Am J Hum Genet 1989 1.66
20 First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. Lancet 1986 1.61
21 Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet 1988 1.60
22 Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 1990 1.57
23 Mapping of a major genetic modifier of embryonic lethality in TGF beta 1 knockout mice. Nat Genet 1997 1.51
24 Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am J Hum Genet 2001 1.50
25 Impact of lipoprotein(a) levels and apolipoprotein(a) isoform size on risk of coronary heart disease. J Intern Med 2014 1.48
26 Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene. Am J Hum Genet 1988 1.48
27 The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12. Am J Hum Genet 1992 1.45
28 Linkage of an X-chromosome cleft palate gene. Nature 1987 1.42
29 Panning for gold: genome-wide scanning for linkage in type 1 diabetes. Hum Mol Genet 1996 1.39
30 Experience with new DNA markers for the diagnosis of cystic fibrosis. N Engl J Med 1988 1.37
31 LOD wars: the affected-sib-pair paradigm strikes back! Am J Hum Genet 1997 1.35
32 Familial combined hyperlipidaemia linked to the apolipoprotein AI-CII-AIV gene cluster on chromosome 11q23-q24. Nature 1991 1.32
33 Homozygosity mapping: familiarity breeds debility. Nat Genet 1993 1.29
34 Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23. Am J Hum Genet 1998 1.28
35 An extension of the Maximum Lod Score method to X-linked loci. Ann Hum Genet 1995 1.21
36 A rare variant of the leptin gene has large effects on blood pressure and carotid intima-medial thickness: a study of 1428 individuals in 248 families. J Med Genet 2005 1.16
37 Fine-mapping of an ancestral recombination breakpoint in DCP1. Nat Genet 1999 1.13
38 Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet 1990 1.10
39 Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. Am J Hum Genet 1993 1.08
40 Report of the committee on the genetic constitution of chromosomes 7 and 8. Cytogenet Cell Genet 1989 1.06
41 Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes. Prenat Diagn 1987 1.05
42 Novel genetic variants linked to coronary artery disease by genome-wide association are not associated with carotid artery intima-media thickness or intermediate risk phenotypes. Atherosclerosis 2008 1.04
43 Prenatal diagnosis of Friedreich ataxia. Am J Med Genet 1989 1.03
44 Linkage of the angiotensinogen gene locus to human essential hypertension in African Caribbeans. J Clin Invest 1995 1.02
45 Twenty-five loci form a continuous linkage map of markers for human chromosome 7. Genomics 1989 1.01
46 Genetic homogeneity of cystic fibrosis. Nucleic Acids Res 1986 1.01
47 Resolving an apparent paradox concerning the role of TGFA in CL/P. Am J Hum Genet 1993 1.00
48 Genetic differences between cystic fibrosis with and without meconium ileus. Lancet 1988 1.00
49 Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. Am J Hum Genet 1991 0.98
50 Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7. Hum Genet 1987 0.97
51 An estimation of the number of susceptibility loci for isolated cleft palate. J Craniofac Genet Dev Biol 1994 0.96
52 A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19. J Med Genet 1986 0.96
53 Segregation and linkage analysis of serum angiotensin I-converting enzyme levels: evidence for two quantitative-trait loci. Am J Hum Genet 1995 0.95
54 Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans. Ann Hum Genet 2006 0.95
55 Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus. J Med Genet 1992 0.95
56 Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage. Hum Genet 1990 0.92
57 Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities. J Med Genet 1994 0.91
58 Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia. Arterioscler Thromb 1994 0.89
59 Phenotypic consequences of variation across the aldosterone synthase and 11-beta hydroxylase locus in a hypertensive cohort: data from the MRC BRIGHT Study. Clin Endocrinol (Oxf) 2007 0.87
60 Mutational mechanisms for generating microsatellite allele-frequency distributions: an analysis of 4,558 markers. Am J Hum Genet 1998 0.86
61 Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11. Am J Hum Genet 1986 0.85
62 The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4. Am J Hum Genet 1986 0.85
63 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
64 Cloning and sequencing of the mouse Gli2 gene: localization to the Dominant hemimelia critical region. Genomics 1997 0.82
65 Further data on linkage between cystic fibrosis and 7C22 (D7S16) Am J Hum Genet 1987 0.81
66 Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 1997 0.81
67 Genetics of Alzheimer's disease. Adv Neurol 1990 0.81
68 Gene targeting for somatic cell manipulation: rapid analysis of reduced chromosome hybrids by Alu-PCR fingerprinting and chromosome painting. Hum Mol Genet 1992 0.81
69 Linkage between the cystic fibrosis locus and markers on chromosome 7q. Cytogenet Cell Genet 1986 0.81
70 The gene CYP3 encoding P450pcn1 (nifedipine oxidase) is tightly linked to the gene COL1A2 encoding collagen type 1 alpha on 7q21-q22.1. Am J Hum Genet 1988 0.79
71 Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans. Am J Hypertens 1998 0.79
72 Angiotensinogen in human essential hypertension. Hypertension 1996 0.78
73 Report of the committee on the genetic constitution of chromosomes 7 and 8. Cytogenet Cell Genet 1988 0.78
74 Exclusion of the Friedreich ataxia gene from chromosome 19. Hum Genet 1987 0.78
75 Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus. Hum Mol Genet 1994 0.77
76 Cystic fibrosis carrier detection using a linked gene probe. J Med Genet 1986 0.76
77 Inheritance of chronic inflammatory bowel disease. BMJ 1993 0.75
78 Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for the defect causing cystic fibrosis. Am J Hum Genet 1987 0.75
79 Isolation of a polymorphic genomic clone from chromosome 7. Physical and genetic linkage studies to markers around the cystic fibrosis locus. Hum Genet 1987 0.75
80 The cystic fibrosis locus. Enzyme 1987 0.75
81 Molecular genetics and the basic defect causing cystic fibrosis. Cold Spring Harb Symp Quant Biol 1986 0.75
82 Report of the committee on the genetic constitution of chromosome 7. Cytogenet Cell Genet 1990 0.75
83 Cystic fibrosis linkage exclusion data. Cytogenet Cell Genet 1986 0.75
84 DNA markers for the cystic fibrosis locus. Prog Clin Biol Res 1987 0.75
85 Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects. Clin Genet 1994 0.75
86 A human regulatory subunit of type II cAMP-dependent protein kinase localized by its linkage relationship to several cloned chromosome 7q markers. Cytogenet Cell Genet 1987 0.75
87 Cystic fibrosis. Nature 1989 0.75
88 Prenatal diagnosis of cystic fibrosis using linked DNA probes. Prenat Diagn 1988 0.75
89 Absence of genetic linkage between polymorphisms of the insulin receptor gene and essential hypertension. J Hum Hypertens 1995 0.75
90 Analysis of the transgenome of MET transfectant cell lines reveals that MET activation is accompanied by an interstitial insertion. Hum Genet 1990 0.75
91 The application of molecular genetics to the study of the basic defect causing cystic fibrosis. Prog Clin Biol Res 1987 0.75