PubRank

P Sistonen

Author PubWeight™ 157.79‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 1992 15.62
2 Clues to the pathogenesis of familial colorectal cancer. Science 1993 14.52
3 Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 1993 9.93
4 Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998 7.08
5 Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med 1994 5.12
6 Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 1997 4.27
7 Genetic mapping of a locus predisposing to human colorectal cancer. Science 1993 4.12
8 Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 1995 3.45
9 Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A 2001 3.31
10 Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res 1995 2.93
11 Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995 2.89
12 Diagnosis of twin zygosity by mailed questionnaire. Hum Hered 1978 2.85
13 Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 1993 2.46
14 Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet 1999 1.79
15 Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 1996 1.58
16 Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Cancer Res 1997 1.47
17 Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol 2001 1.46
18 Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet 1995 1.46
19 The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet 1996 1.46
20 High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. Am J Hum Genet 1994 1.45
21 Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet 1995 1.42
22 Genetic homogeneity of cartilage-hair hypoplasia. Hum Genet 1995 1.39
23 Donors with a rare pheno (geno) type. Vox Sang 2008 1.35
24 Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet 1993 1.30
25 Screening for microsatellite instability target genes in colorectal cancers. J Med Genet 2002 1.29
26 Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci U S A 1991 1.27
27 Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. Proc Natl Acad Sci U S A 1990 1.26
28 Y-chromosomal SNPs in Finno-Ugric-speaking populations analyzed by minisequencing on microarrays. Genome Res 2001 1.18
29 Frequent loss of SMAD4/DPC4 protein in colorectal cancers. Gut 2002 1.18
30 Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage. Am J Hum Genet 1994 1.18
31 International Society of Blood Transfusion Committee on terminology for red blood cell surface antigens: Macao report. Vox Sang 2009 1.17
32 Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q. Am J Hum Genet 1996 1.17
33 International Society of Blood Transfusion Committee on terminology for red cell surface antigens: Vancouver Report. Vox Sang 2003 1.16
34 mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy. Eur J Hum Genet 1998 1.14
35 Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families. Proc Natl Acad Sci U S A 1994 1.14
36 Analysis of 16 Y STR loci in the Finnish population reveals a local reduction in the diversity of male lineages. Forensic Sci Int 2004 1.12
37 Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22. J Med Genet 2008 1.11
38 Blood group terminology 2004: from the International Society of Blood Transfusion committee on terminology for red cell surface antigens. Vox Sang 2004 1.11
39 Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region. Genomics 1996 1.11
40 SMAD genes in juvenile polyposis. Genes Chromosomes Cancer 1999 1.10
41 Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Eur J Hum Genet 2000 1.07
42 Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population. Tissue Antigens 2012 1.05
43 Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami. Eur J Hum Genet 1999 1.04
44 Classification principles and genetics of chronic gastritis. Scand J Gastroenterol Suppl 1987 1.04
45 Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 1994 1.04
46 Effect of ABO blood group and secretor status on the frequency of Helicobacter pylori antibodies. Scand J Gastroenterol 1990 1.03
47 A population genetic study in Finland: comparison of the Finnish- and Swedish-speaking populations. Hum Hered 1991 1.00
48 Molecular basis of the RhCW (Rh8) and RhCX (Rh9) blood group specificities. Blood 1995 0.99
49 CD28/CTLA4 gene region on chromosome 2q33 confers genetic susceptibility to celiac disease. A linkage and family-based association study. Tissue Antigens 1999 0.97
50 Finnish mitochondrial DNA HVS-I and HVS-II population data. Forensic Sci Int 2007 0.97
51 Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. Neurology 1992 0.96
52 Evidence supporting exclusion of the DCC gene and a portion of chromosome 18q as the locus for susceptibility to hereditary nonpolyposis colorectal carcinoma in five kindreds. Cancer Res 1991 0.96
53 Genetic polymorphisms in carcinogen metabolism and their association to hereditary nonpolyposis colon cancer. Gastroenterology 1998 0.95
54 Familial erythrocytosis genetically linked to erythropoietin receptor gene. Lancet 1993 0.95
55 Mutation of an mutL homologue in a Navajo family with hereditary nonpolyposis colorectal cancer. J Natl Cancer Inst 1994 0.92
56 Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. Genomics 1995 0.91
57 Evidence that the MCC-APC gene region in 5q21 is not the site for susceptibility to hereditary nonpolyposis colorectal carcinoma. Cancer Res 1992 0.91
58 On the heritability of serum high density lipoprotein in twins. Am J Hum Genet 1980 0.90
59 High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families. Genomics 1994 0.90
60 International Society of Blood Transfusion Committee on Terminology for Red Cell Surface Antigens: Cape Town report. Vox Sang 2007 0.90
61 Linked polymorphic DNA markers in the prediction of X-linked muscular dystrophy. Ann Hum Genet 1987 0.89
62 The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci U S A 1994 0.89
63 A linkage map spanning the locus for diastrophic dysplasia (DTD). Genomics 1991 0.86
64 Choroideremia: linkage analysis with physically mapped close DNA-markers. Hum Genet 1991 0.86
65 Three dinucleotide repeat polymorphisms proximal to the D2S123 locus. Hum Mol Genet 1994 0.85
66 Serum IgE levels in twins. Hum Hered 1980 0.84
67 Genetics of autoantibodies in relation to disease. An epidemiological study of two population series. Acta Med Scand 1982 0.84
68 The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. Proc Natl Acad Sci U S A 1993 0.84
69 Molecular heterogeneity of the Jk(null) phenotype: expression analysis of the Jk(S291P) mutation found in Finns. Blood 2000 0.84
70 Linkage disequilibrium mapping of the cornea plana congenita gene CNA2. Genomics 1995 0.83
71 Genetic polymorphism of the LW blood group system. Ann Hum Genet 1983 0.83
72 Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia. Eur J Hum Genet 2000 0.83
73 A microarray system for genotyping 150 single nucleotide polymorphisms in the coding region of human mitochondrial DNA. Genomics 2006 0.82
74 Morphological differentiation of human SH-SY5Y neuroblastoma cells inhibits human immunodeficiency virus type 1 infection. J Gen Virol 1994 0.81
75 Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. Am J Hum Genet 1997 0.81
76 Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. Am J Hum Genet 1997 0.80
77 Linkage of the LW blood group locus with the complement C3 and Lutheran blood group loci. Ann Hum Genet 1984 0.80
78 Terminology for red cell surface antigens. ISBT Working Party Oslo Report. International Society of Blood Transfusion. Vox Sang 1999 0.79
79 International Society of Blood Transfusion Working Party on Terminology for Red Cell Surface Antigens. Vox Sang 2001 0.78
80 High birth weight is associated with human leukocyte antigen (HLA) DRB1*13 in full-term infants. Eur J Immunogenet 2004 0.78
81 Hemophilia A: genetic prediction and linkage studies in all available families in Finland. Clin Genet 1991 0.78
82 Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles. Transfusion 1996 0.78
83 Mapping of the regulatory subunits RI beta and RII beta of cAMP-dependent protein kinase genes on human chromosome 7. Genomics 1992 0.78
84 A known polymorphism in the bile salt export pump gene is not a risk allele for intrahepatic cholestasis of pregnancy. Scand J Gastroenterol 2004 0.78
85 MtDNA polymorphism in the Hungarians: comparison to three other Finno-Ugric-speaking populations. Hereditas 2000 0.78
86 Uniparental disomy in cartilage-hair hypoplasia. Eur J Hum Genet 1997 0.77
87 WES, a 'new' infrequent blood group antigen in Finns. Vox Sang 1987 0.77
88 Nea, new blood group antigen in Finland. Vox Sang 1981 0.76
89 Finnish twins reared apart. II: Validation of zygosity, environmental dissimilarity and weight and height. Acta Genet Med Gemellol (Roma) 1984 0.76
90 Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations. Tissue Antigens 2009 0.76
91 A phenotypic association between the blood group antigen Nea and the Rh antigen D. Med Biol 1981 0.76
92 A 'new' Cromer-related high frequency antigen probably antithetical to WES. Vox Sang 1987 0.76
93 Molecular basis and expression of the LWa/LWb blood group polymorphism. Blood 1995 0.76
94 Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease. J Med Genet 1996 0.75
95 Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes. J Med Genet 2006 0.75
96 Identical twins with the Rhnull phenotype of the regulator type in a Finnish Lapp family. Vox Sang 1985 0.75
97 [Linkage and linkage disequilibrium in the Finnish disease heritage]. Duodecim 1994 0.75
98 [Defective gene causing diastrophic dysplasia has been localized]. Duodecim 1991 0.75
99 A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online. Hum Mutat 1998 0.75
100 Evidence that the low-incidence red cell antigens Rla and Lsa are identical. Immunohematology 1996 0.75
101 A microsatellite polymorphism in the von Willebrand factor gene: comparison of allele frequencies in different population samples and evaluation for forensic medicine. Forensic Sci Int 1994 0.75
102 [Localization of progressive myoclonus epilepsy gene opens new horizons for epilepsy research]. Duodecim 1992 0.75
103 Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland. Eur J Hum Genet 1999 0.75
104 Evidence for a 'new' Rh gene complex producing the rare Cx (Rh9) antigen in the Somali population of East Africa. Transfusion 1987 0.75
105 A 'new' allele giving further insight into the LW blood group system. Vox Sang 1982 0.75
106 Duplication of exon 3 in the glycophorin C gene gives rise to the Lsa blood group antigen. Transfusion 1994 0.75