Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
|
Nature
|
1986
|
4.13
|
2
|
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.
|
Clin Genet
|
1975
|
3.81
|
3
|
Down syndrome and recent demographic trends in Manitoba.
|
J Med Genet
|
1978
|
2.34
|
4
|
Human genes encoding prothrombin and ceruloplasmin map to 11p11-q12 and 3q21-24, respectively.
|
Somat Cell Mol Genet
|
1987
|
2.21
|
5
|
Prenatal diagnosis of genetic disease in Canada: report of a collaborative study.
|
Can Med Assoc J
|
1976
|
2.07
|
6
|
Chorionic villus sampling and amniocentesis for prenatal diagnosis.
|
Lancet
|
1997
|
2.04
|
7
|
Robertsonian translocations in man: evidence for prezygotic selection.
|
Cytogenetics
|
1968
|
1.82
|
8
|
Familial mental retardation in a family with an inherited chromosome rearrangement.
|
J Med Genet
|
1974
|
1.57
|
9
|
Regional localization of 18 human X-linked DNA sequences.
|
Cytogenet Cell Genet
|
1986
|
1.48
|
10
|
Localization of the gene encoding human factor V to chromosome 1q21-25.
|
Genomics
|
1988
|
1.46
|
11
|
Chromosome studies in a neonatal population.
|
Can Med Assoc J
|
1972
|
1.42
|
12
|
The characteristics of a population of Canadian women offered maternal serum alphafetoprotein screening during pregnancy.
|
Can J Public Health
|
1986
|
1.39
|
13
|
Chromosomal mosaicism in diagnostic amniotic fluid cell cultures.
|
Pediatr Res
|
1974
|
1.34
|
14
|
Isolation and characterization of an alpha-satellite repeated sequence from human chromosome 22.
|
Chromosoma
|
1986
|
1.33
|
15
|
Chromosomal assignment of human sequences encoding arginine vasopressin-neurophysin II and growth hormone releasing factor.
|
Somat Cell Mol Genet
|
1985
|
1.24
|
16
|
Report of the committee on the genetic constitution of chromosome 1. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping.
|
Cytogenet Cell Genet
|
1982
|
1.16
|
17
|
Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR.
|
Am J Med Genet
|
1990
|
1.16
|
18
|
A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations.
|
Cytogenet Cell Genet
|
1978
|
1.11
|
19
|
Genetic intersexuality in goats.
|
J Reprod Fertil Suppl
|
1969
|
1.10
|
20
|
DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
|
Am J Hum Genet
|
1987
|
1.08
|
21
|
A DNA marker for human chromosome 8 that detects alleles of differing sizes.
|
Cytogenet Cell Genet
|
1986
|
1.08
|
22
|
Human population cytogenetics: dilemmas and problems.
|
Am J Hum Genet
|
1976
|
1.07
|
23
|
Chromosome investigations of a small isolated human population: chromosome abnormalities and distribution of chromosome counts according to age and sex among the population of Tristan da Cunha.
|
Nature
|
1965
|
1.07
|
24
|
A summary of the human gene map, 1973-1977.
|
Cytogenet Cell Genet
|
1978
|
0.96
|
25
|
Report of the committee on the genetic constitution of chromosome 1.
|
Cytogenet Cell Genet
|
1979
|
0.96
|
26
|
A 48, XXXX female.
|
J Med Genet
|
1974
|
0.94
|
27
|
Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Final report.
|
Prenat Diagn
|
1992
|
0.93
|
28
|
Chromosome findings in chronic psychotic patients.
|
Br J Psychiatry
|
1968
|
0.93
|
29
|
Significance of sex chromosome derived heterochromatin in mammals.
|
Nature
|
1968
|
0.92
|
30
|
Proceedings: Report of the Committee on the Genetic Constitution of Chromosome 1.
|
Cytogenet Cell Genet
|
1974
|
0.92
|
31
|
Report of the committee on the genetic constitution of chromosomes 1 and 2.
|
Birth Defects Orig Artic Ser
|
1976
|
0.91
|
32
|
Non-random inactivation of the X chromosome in the female mule.
|
Nature
|
1970
|
0.91
|
33
|
Non-random X chromosome expression in female mules and hinnies.
|
Nature
|
1971
|
0.91
|
34
|
Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids.
|
Am J Hum Genet
|
1975
|
0.91
|
35
|
Cytogenetic disorders.
|
N Engl J Med
|
1984
|
0.89
|
36
|
The association of glucose phasphate isomerase expression with human chromosome 19 using somatic cell hybrids.
|
Cytogenet Cell Genet
|
1973
|
0.88
|
37
|
Mapping the human 5S RNA genes on chromosome 1 using translocations.
|
Cytogenet Cell Genet
|
1975
|
0.86
|
38
|
A cytogenetic survey of 14,069 newborn infants. IV. Further follow-up on the children with sex chromosome anomalies.
|
Birth Defects Orig Artic Ser
|
1982
|
0.86
|
39
|
G6PD expression and X chromosome late replication in fibroblast clones from a female mule.
|
Nature
|
1972
|
0.86
|
40
|
Non-random x-inactivation in the female mule.
|
Nature
|
1969
|
0.86
|
41
|
Physical and psychologic parameters in children with sex chromosome anomalies: further follow-up from the Winnipeg Cytogenetic Study of 14,069 newborn infants.
|
Birth Defects Orig Artic Ser
|
1986
|
0.86
|
42
|
Homozygous Robertsonian translocations in a fetus with 44 chromosomes.
|
Hum Genet
|
1982
|
0.85
|
43
|
Cytogenetic and endocrine studies of a freemartin heifer and its bull co-twin.
|
Cytogenetics
|
1969
|
0.85
|
44
|
Detection and cross-reaction of H-Y antigen by haemagglutination.
|
J Immunogenet
|
1978
|
0.85
|
45
|
Deletion of the short arm of chromosome No. 10.
|
J Med Genet
|
1975
|
0.85
|
46
|
Non-random late replication of X chromosomes in mules and hinnies.
|
Nature
|
1971
|
0.84
|
47
|
Regional localization of loci for human PGM and 6PGD on human chromosome one by use of hybrids of Chinese hamster-human somatic cells.
|
Proc Natl Acad Sci U S A
|
1973
|
0.84
|
48
|
Tentative assignment of the peptidase-A (Pep-A) gene locus to the (q21-qter) region of chromosome 18 in man.
|
Cytogenet Cell Genet
|
1975
|
0.83
|
49
|
C-Band polymorphisms of chromosomes 1, 9, and 16 in four subgroups of mentally retarded patients and a normal control population.
|
Hum Genet
|
1979
|
0.83
|
50
|
Report of the Committee on the Genetic Constitution of Chromosome 1.
|
Cytogenet Cell Genet
|
1984
|
0.82
|
51
|
Analyses of data on rates of cytogenetic disorders in live births.
|
Am J Hum Genet
|
1978
|
0.81
|
52
|
Biochemical investigations in cultured skin fibroblasts from patients with Duchenne muscular dystrophy.
|
Clin Genet
|
1978
|
0.81
|
53
|
Antenatal diagnosis of neural tube defects in Canada: extension of a collaborative study.
|
Can Med Assoc J
|
1979
|
0.81
|
54
|
Structural gene encoding human factor XII is located at 5q33-qter.
|
Somat Cell Mol Genet
|
1988
|
0.80
|
55
|
Characteristics of an HPRT-deficient chinese hamster cell line.
|
Cytogenet Cell Genet
|
1974
|
0.80
|
56
|
The gene for prolactin-inducible protein (PIP), uniquely expressed in exocrine organs, maps to chromosome 7.
|
Somat Cell Mol Genet
|
1989
|
0.80
|
57
|
An intersex goat with a bilaterally asymmetrical reproductive tract.
|
J Reprod Fertil
|
1968
|
0.80
|
58
|
Fetal sex.
|
Lancet
|
1970
|
0.80
|
59
|
Assignment of the sorbitol dehydrogenase locus to human chromosome 15 pter leads to q21.
|
Biochem Genet
|
1980
|
0.79
|
60
|
Proceedings: Localization of the structural gene for human peptidase-A to chromosome 18.
|
Cytogenet Cell Genet
|
1974
|
0.79
|
61
|
56K fibroblast protein not specific for Duchenne muscular dystrophy but for skin biopsy site.
|
Nature
|
1983
|
0.78
|
62
|
The H-Y antigen:production of antibodies, detection, and cross-reaction between mouse, rat, and human.
|
Cytogenet Cell Genet
|
1978
|
0.78
|
63
|
Ethical considerations in newborn chromosome screening programs.
|
Birth Defects Orig Artic Ser
|
1979
|
0.78
|
64
|
The gene for clotting factor 10 is mapped to 13q32----qter.
|
Cytogenet Cell Genet
|
1986
|
0.78
|
65
|
Chromosomal localization and structure of the human P1 protamine gene.
|
Genomics
|
1989
|
0.78
|
66
|
Proline incorporation by cultured skin fibroblasts from patients with duchenne muscular dystrophy.
|
J Neurol Sci
|
1983
|
0.77
|
67
|
Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome.
|
Hum Genet
|
1991
|
0.77
|
68
|
Analysis of fibroblast proteins from patients with Duchenne muscular dystrophy by two-dimensional gel electrophoresis.
|
Nature
|
1982
|
0.77
|
69
|
Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the Lesch-Nyhan syndrome.
|
Biochem Genet
|
1973
|
0.77
|
70
|
Evidence for the role of the maternal immune system in balancing the sex ratio in mice.
|
J Reprod Immunol
|
1980
|
0.76
|
71
|
Proceedings: Synteny of the IDH-1 and MDH-1 gene loci in man and probable assignment to chromosome 2.
|
Cytogenet Cell Genet
|
1974
|
0.76
|
72
|
Banding patterns of metaphase chromosomes in Down's syndrome.
|
Lancet
|
1971
|
0.76
|
73
|
Confirmation of the assignment of MYCL to chromosome 1 in humans and its position relative to RH, UMPK, and PGM1.
|
Genomics
|
1988
|
0.75
|
74
|
A BglII RFLP at the human prolactin gene locus on chromosome 6 (PRL).
|
Nucleic Acids Res
|
1991
|
0.75
|
75
|
Tertiary trisomy 14: is there a syndrome?
|
Birth Defects Orig Artic Ser
|
1976
|
0.75
|
76
|
Limb defects and chorionic villus sampling.
|
Lancet
|
1996
|
0.75
|
77
|
TaqI and RsaI RFLP's at the prolactin inducible protein (PIP) locus on chromosome 7.
|
Nucleic Acids Res
|
1989
|
0.75
|
78
|
Two RFLPs identified by an anonymous sequence (D7S19) (pTS119) from chromosome 7.
|
Nucleic Acids Res
|
1987
|
0.75
|
79
|
The William Allan Memorial Award. Presented to Patricia A. Jacobs, D.Sc., at the annual meeting of the American Society of Human Genetics, Dallas, October 28-31, 1981.
|
Am J Hum Genet
|
1982
|
0.75
|
80
|
Assignment of the inorganic pyrophosphatase gene locus (PP) to chromosome 10 in man.
|
Cytogenet Cell Genet
|
1976
|
0.75
|
81
|
Report of the committee on the genetic constitution of chromosome 1.
|
Birth Defects Orig Artic Ser
|
1980
|
0.75
|
82
|
Human phosphoglycolate phosphatase is coded by a gene on chromosome 16.
|
Cytogenet Cell Genet
|
1980
|
0.75
|
83
|
Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes.
|
Am J Med Genet
|
1991
|
0.75
|
84
|
The effects of gamma irradiation of human fibroblasts on human/Chinese hamster somatic cell hybrids.
|
Can J Genet Cytol
|
1981
|
0.75
|
85
|
Assignment of the peptidase D gene locus (PEPD) to chromosome 19 in man.
|
Cytogenet Cell Genet
|
1976
|
0.75
|
86
|
Proposed banding nomenclature for the Chinese hamster chromosomes (Cricetulus grises).
|
Birth Defects Orig Artic Ser
|
1976
|
0.75
|
87
|
Assignment of three human gene loci to regions of chromosome 2.
|
Birth Defects Orig Artic Ser
|
1975
|
0.75
|
88
|
Isolation and characterization of a processed gene for human ceruloplasmin.
|
Biochemistry
|
1987
|
0.75
|
89
|
Physical and psychological findings in adolescents with sex chromosome abnormalities ascertained in the Winnipeg Cytogenetic Study of Newborns: 1970-1973.
|
Birth Defects Orig Artic Ser
|
1990
|
0.75
|
90
|
A ribulose 5-phosphate 3-epimerase (RPE) locus is on human chromosome 2.
|
Cytogenet Cell Genet
|
1982
|
0.75
|
91
|
Immunogenetics of sex determination of the polled goat.
|
Cytogenet Cell Genet
|
1980
|
0.75
|
92
|
Further data on the assignment of the phosphoglucomutase2 (PGM2) gene locus to chromosome 4 in man.
|
Cytogenet Cell Genet
|
1975
|
0.75
|
93
|
Regional localizations of four markers on chromosome 1 using a 1/4 translocation.
|
Cytogenet Cell Genet
|
1976
|
0.75
|
94
|
Mapping the human 5S RNA genes on chromosome 1 using translocations.
|
Birth Defects Orig Artic Ser
|
1975
|
0.75
|
95
|
Human chromosomes control growth of human-Chinese hamster somatic cell hybrids.
|
Somatic Cell Genet
|
1982
|
0.75
|
96
|
A cytogenetic survey of 14,069 new born infants. II. Preliminary clinical findings on children with sex chromosome anomalies.
|
Clin Genet
|
1976
|
0.75
|
97
|
Localization of gene loci on chromosome 12 and the X in man.
|
Cytogenet Cell Genet
|
1975
|
0.75
|
98
|
Incorporation of methionine sulphur into cysteine in vitro by fibroblasts deficient in cystathionine synthetase.
|
Arch Dis Child
|
1969
|
0.75
|
99
|
Chromosomal localization of a sequence with in vivo activity for initiation of DNA replication.
|
Somat Cell Mol Genet
|
1993
|
0.75
|
100
|
Conformation of the assignment of a glutathione peroxidase locus to chromosome 3 in man.
|
Cytogenet Cell Genet
|
1979
|
0.75
|
101
|
Prenatal diagnosis in Canada--1990: a review.
|
Prenat Diagn
|
1994
|
0.75
|
102
|
Standardization in human cytogenetics.
|
Cytogenet Cell Genet
|
1975
|
0.75
|
103
|
Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons.
|
Am J Med Genet
|
1992
|
0.75
|
104
|
Tentative assignment of the peptidase-A (Pep-A) gene locus to the (q21 leads to qter) region of chromosome 18 in man.
|
Birth Defects Orig Artic Ser
|
1975
|
0.75
|
105
|
Regional localization of four markers on chromosome 1 using 1/4 translocation.
|
Birth Defects Orig Artic Ser
|
1976
|
0.75
|
106
|
Searching for molecular abnormalities in genetic diseases by the use of a double labeling technique. II. Deficiency of a basic protein in fibroblasts of patients with Pompe's disease.
|
Pediatr Res
|
1978
|
0.75
|
107
|
Long-range restriction mapping and linkage analysis of the Prader-Willi chromosome region (PWCR).
|
Genomics
|
1991
|
0.75
|
108
|
Localization of the processed gene for human ceruloplasmin to chromosome region 8q21.13----q23.1 by in situ hybridization.
|
Cytogenet Cell Genet
|
1988
|
0.75
|
109
|
Further data on the assignment of the phosphoglucomutase (PGM2) gene locus to chromosome 4 in man.
|
Birth Defects Orig Artic Ser
|
1975
|
0.75
|
110
|
Sex chromosome anomalies: prenatal diagnosis and the need for continued prospective studies.
|
Birth Defects Orig Artic Ser
|
1990
|
0.75
|
111
|
Clonal culture of human amniocytes.
|
Am J Med Genet
|
1982
|
0.75
|
112
|
Cytogenetic characteristics of 26 polyethylene glycol-induced human-hamster hybrid cell lines.
|
Cytogenet Cell Genet
|
1979
|
0.75
|
113
|
Report of the committee on the genetic constitution of chromosome 1.
|
Birth Defects Orig Artic Ser
|
1982
|
0.75
|
114
|
Constitutive heterochromatin in mouse chromosomes treated with typsin.
|
Can J Genet Cytol
|
1973
|
0.75
|
115
|
Assignment of the inorganic chromosome 10 in man.
|
Birth Defects Orig Artic Ser
|
1976
|
0.75
|
116
|
Assignment of the peptidase D gene locus (PEPD) to chromosome 19 in man.
|
Birth Defects Orig Artic Ser
|
1976
|
0.75
|
117
|
Assignment of three human gene loci to regions of chromsome 2.
|
Cytogenet Cell Genet
|
1975
|
0.75
|
118
|
Localization of gene loci on chromosome 12 and the X in man.
|
Birth Defects Orig Artic Ser
|
1975
|
0.75
|
119
|
Long-term lymphocyte cultures--cytogenetics.
|
Birth Defects Orig Artic Ser
|
1973
|
0.75
|
120
|
The effect of gamma irradiation of human cells and somatic cell hybridization on sister chromatid exchange frequencies in the hamster chromosomes of hamster-human hybrid lines.
|
Cytogenet Cell Genet
|
1981
|
0.75
|
121
|
The human complement after trypsin pretreatment as compared to the Paris standard.
|
Humangenetik
|
1975
|
0.75
|
122
|
Fetal karyotype of amniotic cells without culturing.
|
Lancet
|
1972
|
0.75
|