PubRank

M Hulten

Author PubWeight™ 22.68‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 1999 6.42
2 Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 2001 1.99
3 Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 2000 1.61
4 Integration of gene maps: chromosome 21. Proc Natl Acad Sci U S A 1993 1.10
5 Role of congenital hypertrophy of the retinal pigment epithelium in the predictive diagnosis of familial adenomatous polyposis. Br J Surg 1992 0.96
6 A complex three breakpoint translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility. Hum Genet 1985 0.95
7 The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization. Clin Genet 1988 0.91
8 FISH analysis on spontaneously arising micronuclei in the ICF syndrome. J Med Genet 1995 0.89
9 Genetic analysis of meiotic recombination in humans by use of sperm typing: reduced recombination within a heterozygous paracentric inversion of chromosome 9q32-q34.3. Am J Hum Genet 1998 0.89
10 Germline APC mutation familial adenomatous polyposis in Indian family. Lancet 1992 0.87
11 Linkage heterogeneity in autosomal dominant polycystic kidney disease. Lancet 1988 0.82
12 Amniocentesis in the West Midlands: report on 1000 births. J Med Genet 1980 0.79
13 MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. Brain Dev 2001 0.79
14 Structural abnormalities of chromosome 18. I. A case of 18q-, with autopsy findings. Ann Genet 1971 0.78
15 What is to be done with the XYY fetus? Br Med J 1979 0.78
16 Sperm chromosome complements from two human reciprocal translocation heterozygotes. Hum Genet 1992 0.78
17 Amniotic fluid acetylcholinesterase in the prenatal diagnosis of open neural tube defects and abdominal wall defects: a comparison of gel electrophoresis and a monoclonal antibody immunoassay. Prenat Diagn 1990 0.77
18 Non-invasive prenatal diagnosis of Down's syndrome. Lancet 2001 0.75
19 Heterochromatin in preimplantation mouse embryos. Exp Cell Res 1969 0.75
20 Human T-cell receptor zeta chain gene Map position 1q23.1. Chromosome Res 1997 0.75
21 Somatic gene mutation and breast carcinoma. Nature 1984 0.75
22 [Cytogenetic and clinical studies in children whose parents have been treated with iodine isotopes]. Nord Med 1971 0.75
23 Preventing feticide. Nature 1987 0.75
24 Meiotic investigations of aneuploidy in the human. Basic Life Sci 1985 0.75
25 [Familial partial 17p duplication]. Orv Hetil 1987 0.75
26 Two new polymorphisms in the human elastin gene (ELN). Hum Genet 1994 0.75
27 A Bgl I polymorphism in the human elastin gene (ELN). Clin Genet 1994 0.75