A D Carothers

Author PubWeight™ 44.93‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The validation of the Edinburgh Post-natal Depression Scale on a community sample. Br J Psychiatry 1990 4.14
2 Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997 3.41
3 Population choice in mapping genes for complex diseases. Nat Genet 1999 3.36
4 Microsatellite instability and the role of hMSH2 in sporadic colorectalcancer. Oncogene 1996 1.89
5 Automation of genetic linkage analysis using fluorescent microsatellite markers. Genomics 1994 1.43
6 Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet 1994 1.38
7 Evidence for safety and efficacy of DOTAP cationic liposome mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis. Gene Ther 1997 1.36
8 Factors affecting the timing and imprinting of replication on a mammalian chromosome. J Cell Sci 1995 1.27
9 Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta. J Med Genet 1986 1.27
10 Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene. J Med Genet 1992 1.26
11 Parental age and birth order in the aetiology of some sex chromosome aneuploidies. Ann Hum Genet 1978 1.26
12 A study of familial factors in Alzheimer's disease. Br J Psychiatry 1982 1.20
13 Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers. J Med Genet 2002 1.18
14 A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities. Hum Genet 1992 1.12
15 Gene-environment interactions--the BioBank UK study. Pharmacogenomics J 2002 1.10
16 Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange. Hum Genet 1979 1.09
17 Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations. Hum Mol Genet 2003 1.08
18 Evidence that altered embryonic selection contributes to maternal-age effect in aneuploidy: a spurious conclusion attributable to pooling of heterogeneous data? Am J Hum Genet 1983 0.96
19 A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families. Hum Genet 1993 0.92
20 Power of linkage disequilibrium mapping to detect a quantitative trait locus (QTL) in selected samples of unrelated individuals. Ann Hum Genet 2003 0.88
21 Elevated maternal age-specific rates of Down syndrome liveborn offspring of women of Mexican and Central American origin in California. Prenat Diagn 1999 0.87
22 A collaborative study of the aetiology of Turner syndrome. Ann Hum Genet 1980 0.87
23 Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. J Med Genet 1991 0.87
24 The recognition and incidence of haploid and polyploid spermatozoa in man, rabbit and mouse. J Reprod Fertil 1975 0.86
25 Operation and performance of an automatic metaphase finder based on the MRC fast interval processor. J Histochem Cytochem 1986 0.83
26 Down syndrome and maternal age: the effect of erroneous assignment of parental origin. Am J Hum Genet 1987 0.83
27 Morphological abnormalities in spermatozoa of man and great apes. Nature 1977 0.81
28 Hardware and software requirements for quantitative analysis of comparative genomic hybridization. Cytometry 1995 0.80
29 Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa. Am J Hum Genet 1994 0.79
30 Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16. J Med Genet 1992 0.79
31 An aetiological study of 290 XXY males, with special reference to the role of paternal age. Hum Genet 1984 0.78
32 Laboratory and clinical studies in support of cystic fibrosis gene therapy using pCMV-CFTR-DOTAP. Gene Ther 1996 0.76
33 Use of computer simulation to evaluate a putative cluster of genetic or teratologic outcomes: adjustment for "multiple hypotheses" and application to a reported excess of Down's syndrome. Genet Epidemiol 1997 0.76
34 Risk calculations under heterogeneity: comment on a letter by D. E. Weeks and J. Ott. Am J Hum Genet 1990 0.76
35 Oocyte selection model for the maternal age-dependence in Down syndrome. Hum Genet 1993 0.75
36 Associations of acrocentric chromosomes. Am J Hum Genet 1979 0.75
37 CNTF in the embryo. Nat Genet 1994 0.75
38 Controversy concerning paternal age effect in 47, + 21 Down's syndrome. Hum Genet 1988 0.75
39 Seasonality of abnormal births and the "SPOO" hypothesis. Lancet 1983 0.75
40 On determining the parental origins of homologous chromosomes. Ann Hum Genet 1981 0.75
41 The effect of variant chromosomes on reproductive fitness in man. Clin Genet 1982 0.75
42 Tests of performance of four semi-automatic metaphase-finding and karyotyping systems. Clin Genet 1991 0.75
43 Continuing confusion over the eponymous possessive. BMJ 1995 0.75
44 An efficient multiple-cell approach to automatic aneuploidy screening. Anal Quant Cytol 1983 0.75
45 An examination and extension of Leslie's test of equal catchability. Biometrics 1971 0.75
46 Population dynamics and the evolution of sex-determination in lemmings. Genet Res 1980 0.75
47 Some methods of combining class information in multivariate normal discrimination for the classification of human chromosomes. Stat Med 1991 0.75