PubRank

J Kere

Author PubWeight™ 154.46‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet 2000 5.65
2 Microsatellite diversity and the demographic history of modern humans. Proc Natl Acad Sci U S A 1997 4.96
3 Direct selection: a method for the isolation of cDNAs encoded by large genomic regions. Proc Natl Acad Sci U S A 1991 3.66
4 Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics 1987 3.03
5 Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet 1996 2.70
6 X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res 1997 2.06
7 Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 2000 1.97
8 Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet 1997 1.82
9 Data mining applied to linkage disequilibrium mapping. Am J Hum Genet 2000 1.78
10 The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci U S A 1997 1.77
11 Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol 1999 1.68
12 Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics 2000 1.57
13 Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum Mol Genet 1999 1.55
14 Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am J Physiol 1999 1.47
15 Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet 1995 1.46
16 Patterns of matrix metalloproteinase and TIMP-1 expression in chronic and normally healing human cutaneous wounds. Br J Dermatol 1996 1.44
17 DYX1C1 functions in neuronal migration in developing neocortex. Neuroscience 2006 1.42
18 Phenylketonuria screening registry as a resource for population genetic studies. J Med Genet 2005 1.38
19 Distinct expression profiles of stromelysin-2 (MMP-10), collagenase-3 (MMP-13), macrophage metalloelastase (MMP-12), and tissue inhibitor of metalloproteinases-3 (TIMP-3) in intestinal ulcerations. Am J Pathol 1998 1.38
20 A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Nat Genet 2001 1.36
21 A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32. J Med Genet 2003 1.35
22 Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett 1990 1.35
23 Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet 1992 1.35
24 A dominant gene for developmental dyslexia on chromosome 3. J Med Genet 2001 1.33
25 Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet 1999 1.29
26 Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat 1998 1.28
27 A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes 1999 1.27
28 Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur J Hum Genet 2000 1.27
29 Gene mapping in isolated populations: new roles for old friends? Hum Hered 2000 1.23
30 Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28. Genomics 1991 1.21
31 A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet 2000 1.20
32 Global analysis of uniparental disomy using high density genotyping arrays. J Med Genet 2005 1.18
33 The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet 1998 1.18
34 Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. Am J Hum Genet 1998 1.17
35 Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 2001 1.14
36 Monosomy 7 in granulocytes and monocytes in myelodysplastic syndrome. N Engl J Med 1987 1.14
37 Cusp patterning defect in Tabby mouse teeth and its partial rescue by FGF. Dev Biol 1999 1.14
38 Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. Hum Mol Genet 2001 1.13
39 Simplified template preparation and improved direct sequencing using Taq polymerase. PCR Methods Appl 1992 1.11
40 Haplotype analysis to determine the position of a mutation among closely linked DNA markers. Hum Mol Genet 1993 1.11
41 Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics 1997 1.10
42 Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 1994 1.07
43 Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. Eur J Hum Genet 2001 1.07
44 Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 1997 1.07
45 Two translocations of chromosome 15q associated with dyslexia. J Med Genet 2000 1.04
46 Introduction of complementary foods in infancy and atopic sensitization at the age of 5 years: timing and food diversity in a Finnish birth cohort. Allergy 2013 1.04
47 Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. Hum Mol Genet 1996 1.04
48 Ordered shotgun sequencing, a strategy for integrated mapping and sequencing of YAC clones. Genomics 1993 1.04
49 The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. Histochem Cell Biol 2000 1.03
50 Chromosome 7p linkage and GPR154 gene association in Italian families with allergic asthma. Clin Exp Allergy 2007 1.03
51 Influence of male sex and parental allergic disease on childhood wheezing: role of interactions. Clin Exp Allergy 2004 1.02
52 Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. Genomics 1992 1.02
53 Factors predisposing to acute and recurrent bacterial non-necrotizing cellulitis in hospitalized patients: a prospective case-control study. Clin Microbiol Infect 2009 1.02
54 Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA. Genomics 2001 1.01
55 A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele. Hum Mol Genet 2000 1.01
56 Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion. Mech Dev 1999 1.00
57 Familial systemic lupus erythematosus in Finland. J Rheumatol 2001 0.99
58 SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types. J Histochem Cytochem 2001 0.99
59 Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea. Mol Hum Reprod 2006 0.98
60 Upregulation of CFTR expression but not SLC26A3 and SLC9A3 in ulcerative colitis. Am J Physiol Gastrointest Liver Physiol 2002 0.98
61 Human TIMP-3 is expressed during fetal development, hair growth cycle, and cancer progression. J Histochem Cytochem 1998 0.98
62 Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis. Ann Hum Genet 2008 0.97
63 Stromelysin-2 is upregulated during normal wound repair and is induced by cytokines. J Invest Dermatol 2000 0.97
64 Concomitant DNA copy number amplification at 17q and 22q in dermatofibrosarcoma protuberans. Cytogenet Cell Genet 2001 0.96
65 Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. Arch Dermatol 2000 0.96
66 Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach. Oncogene 2007 0.96
67 Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed. Am J Hum Genet 1996 0.96
68 Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. Eur J Hum Genet 2001 0.95
69 Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. Genomics 1992 0.95
70 The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia. Hum Mutat 2001 0.95
71 NANOG priming before full reprogramming may generate germ cell tumours. Eur Cell Mater 2011 0.95
72 Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. Eur J Hum Genet 1999 0.94
73 Long-term prognosis of haemangioblastoma of the CNS: impact of von Hippel-Lindau disease. Acta Neurochir (Wien) 1999 0.92
74 Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment. Gut 2001 0.92
75 Association analysis for quantitative traits by data mining: QHPM. Ann Hum Genet 2002 0.91
76 Evidence of streptococcal origin of acute non-necrotising cellulitis: a serological study. Eur J Clin Microbiol Infect Dis 2014 0.91
77 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
78 Interaction between early maternal smoking and variants in TNF and GSTP1 in childhood wheezing. Clin Exp Allergy 2010 0.90
79 A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes. Genomics 1995 0.90
80 Two functional variants of the superoxide dismutase genes in Finnish families with asthma. Thorax 2004 0.90
81 alpha2-Heremans-Schmid glycoprotein gene polymorphisms are associated with adipocyte insulin action. Diabetologia 2004 0.90
82 Association study of 15 novel single-nucleotide polymorphisms of the T-bet locus among Finnish asthma families. Clin Exp Allergy 2004 0.90
83 The protective effect of farm animal exposure on childhood allergy is modified by NPSR1 polymorphisms. J Med Genet 2008 0.90
84 Elevated expression and genetic association links the SOCS3 gene to atopic dermatitis. Am J Hum Genet 2006 0.90
85 Hemangioblastomas of the retina: impact of von Hippel-Lindau disease. Invest Ophthalmol Vis Sci 2000 0.90
86 Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. Hum Mutat 2001 0.89
87 Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies. J Med Genet 2006 0.89
88 Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. J Med Genet 1996 0.88
89 A second-generation association study of the 5q31 cytokine gene cluster and the interleukin-4 receptor in asthma. Genomics 2001 0.88
90 A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families. J Med Genet 2005 0.88
91 Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding. Hum Mol Genet 1997 0.88
92 Genome scan on Swedish Alzheimer's disease families. Mol Psychiatry 2006 0.87
93 Sex specific protective effects of interleukin-9 receptor haplotypes on childhood wheezing and sensitisation. J Med Genet 2004 0.87
94 Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders. Am J Respir Crit Care Med 2000 0.87
95 Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2. Am J Hum Genet 2000 0.87
96 Neuropeptide S receptor 1 expression in the intestine and skin--putative role in peptide hormone secretion. Neurogastroenterol Motil 2009 0.86
97 Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes. Eur J Orthod 2008 0.86
98 Linkage mapping of systemic lupus erythematosus (SLE) in Finnish families multiply affected by SLE. J Med Genet 2004 0.85
99 Characterization of four human YAC libraries for clone size, chimerism and X chromosome sequence representation. Nucleic Acids Res 1994 0.85
100 Working memory brain activity and capacity link MAOA polymorphism to aggressive behavior during development. Transl Psychiatry 2012 0.84
101 Interaction between variants in the interleukin-4 receptor alpha and interleukin-9 receptor genes in childhood wheezing: evidence from a birth cohort study. Clin Exp Allergy 2006 0.84
102 Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate. Cleft Palate Craniofac J 2013 0.84
103 The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone. J Histochem Cytochem 1998 0.83
104 Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. J Med Genet 2001 0.83
105 Association analysis of positional obesity candidate genes based on integrated data from transcriptomics and linkage analysis. Int J Obes (Lond) 2008 0.83
106 Deletions at 14q in malignant mesothelioma detected by microsatellite marker analysis. Br J Cancer 1999 0.83
107 Molecular genetic and epigenetic analysis of NCX2/SLC8A2 at 19q13.3 in human gliomas. Neuropathol Appl Neurobiol 2010 0.82
108 Functional characterization of the promoter of the X-linked ectodermal dysplasia gene. J Biol Chem 1999 0.82
109 Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. Blood 1999 0.82
110 Conserved sequence-tagged sites: a phylogenetic approach to genome mapping. Proc Natl Acad Sci U S A 1992 0.82
111 Verification of self-reported asthma and allergy in subjects and their family members volunteering for gene mapping studies. Respir Med 1998 0.82
112 Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association. J Med Genet 2007 0.82
113 Anti-telomere antibodies in systemic lupus erythematosus (SLE): a comparison with five antinuclear antibody assays in 430 patients with SLE and other rheumatic diseases. Ann Rheum Dis 2004 0.81
114 Intrachromosomal rearrangements fusing L-myc and rlf in small-cell lung cancer. Mol Cell Biol 1991 0.81
115 Determination of deletion sizes in the MHC-linked complement C4 and steroid 21-hydroxylase genes by pulsed-field gel electrophoresis. Genomics 1989 0.81
116 The IL9R region contribution in asthma is supported by genetic association in an isolated population. Eur J Hum Genet 2000 0.81
117 Structure of the human CCG1 gene: relationship between the exons/introns and functional domain/modules of the protein. Gene 1994 0.81
118 Autosomal dominant midfrequency hearing impairment. Scand Audiol Suppl 2001 0.80
119 The role of inflammatory bowel disease susceptibility loci in multiple sclerosis and systemic lupus erythematosus. Genes Immun 2006 0.80
120 Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. Genome Res 1996 0.80
121 Involvement of BRCA1 and BRCA2 in breast cancer in a western Finnish sub-population. Genet Epidemiol 2001 0.80
122 Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure. Mol Hum Reprod 2004 0.79
123 ROCK2 allelic variants are not associated with pre-eclampsia susceptibility in the Finnish population. Mol Hum Reprod 2009 0.79
124 NPSR1 polymorphisms influence recurrent abdominal pain in children: a population-based study. Neurogastroenterol Motil 2014 0.78
125 Genomic structure of the human congenital chloride diarrhea (CLD) gene. Gene 1998 0.78
126 Factor V Leiden as a risk factor for preterm birth--a population-based nested case-control study. J Thromb Haemost 2011 0.78
127 Cystic fibrosis gene mutations deltaF508 and 394delTT in patients with chronic sinusitis in Finland. Acta Otolaryngol 2001 0.78
128 Evidence for two molecular steps in the pathogenesis of myeloid disorders associated with deletion of chromosome 7 long arm. Leukemia 1997 0.78
129 The association of antibodies to cardiolipin, beta 2-glycoprotein I, prothrombin, and oxidized low-density lipoprotein with thrombosis in 292 patients with familial and sporadic systemic lupus erythematosus. Scand J Rheumatol 2004 0.77
130 Genome-wide analysis of extended pedigrees confirms IL2-IL21 linkage and shows additional regions of interest potentially influencing coeliac disease risk. Tissue Antigens 2011 0.77
131 Screening for defined cystic fibrosis mutations by solid-phase minisequencing. Clin Chem 1992 0.77
132 Abnormalities of chromosomes 7 and 22 in human malignant pleural mesothelioma: correlation between Southern blot and cytogenetic analyses. Genes Chromosomes Cancer 1992 0.76
133 DNA discontinuities in the domain of amplified human MYC oncogenes. Genes Chromosomes Cancer 1991 0.76
134 Genomic structure of the human ezrin gene. Hum Genet 1998 0.76
135 PPP2R1B gene in chronic lymphocytic leukemias and mantle cell lymphomas. Leuk Lymphoma 2001 0.76
136 Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations. Tissue Antigens 2009 0.76
137 Neuropeptide S receptor 1 (NPSR1) activates cancer-related pathways and is widely expressed in neuroendocrine tumors. Virchows Arch 2014 0.75
138 Kidney kinetics and chloride ion pumps. Nat Genet 1999 0.75
139 Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes. J Med Genet 2006 0.75
140 [Current status of the human genome project]. Duodecim 1993 0.75
141 Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma. Br J Dermatol 2001 0.75
142 [New methods in gene mapping]. Duodecim 1988 0.75
143 [Linkage and linkage disequilibrium in the Finnish disease heritage]. Duodecim 1994 0.75
144 Reactive oxygen species of neutrophils from patients with monosomy 7 in the bone marrow: contradictory chemiluminescence activity by whole blood or by purified cells. Eur J Haematol 1994 0.75
145 A rare reciprocal translocation (12;21) segregating for nine generations. Hum Genet 1993 0.75
146 Mining associations between genetic markers, phenotypes, and covariates. Genet Epidemiol 2001 0.75
147 [The gene defect for Finnish hereditary amyloidosis has been found]. Duodecim 1991 0.75
148 [Congenital chloride diarrhea gene error in the anion transporter protein]. Duodecim 1999 0.75
149 [Genetics of asthma and atopy--how to interpret results from the candidate gene studies?]. Duodecim 2000 0.75
150 Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci. J Med Genet 2003 0.75
151 Expression of the anhidrotic ectodermal dysplasia gene is reduced in skin cancer coinciding with reduced E-cadherin. Exp Dermatol 1998 0.75
152 Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus. Hum Genet 1989 0.75
153 Prenatal diagnosis of X-linked chronic granulomatous disease using restriction fragment length polymorphism analysis. Genomics 1987 0.75
154 22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31. Gene 1998 0.75
155 Phenotyping asthma patients for a gene mapping study in Finland. Clin Exp Allergy 1998 0.75
156 Recurrent cellulitis with benzathine penicillin prophylaxis is associated with diabetes and psoriasis. Eur J Clin Microbiol Infect Dis 2012 0.75
157 Hereditary hearing loss--the role of environmental factors. Acta Otolaryngol Suppl 2000 0.75