PubRank

Irma Järvelä

Author PubWeight™ 58.92‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Identification of a variant associated with adult-type hypolactasia. Nat Genet 2002 7.49
2 A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. Am J Hum Genet 2002 2.74
3 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 2012 2.65
4 Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein. J Immunol 2007 2.00
5 Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? J Clin Oncol 2005 1.93
6 Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation. Hum Genet 2003 1.59
7 Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families. Ann Neurol 2006 1.57
8 Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans. Am J Hum Genet 2007 1.51
9 Analysis of four neuroligin genes as candidates for autism. Eur J Hum Genet 2005 1.48
10 Genome-wide scan of exfoliation syndrome. Invest Ophthalmol Vis Sci 2007 1.26
11 Association of LOXL1 gene with Finnish exfoliation syndrome patients. J Hum Genet 2009 1.24
12 Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. Hum Mol Genet 2004 1.22
13 Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population. Acta Ophthalmol Scand 2007 1.17
14 Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous. J Clin Oncol 2005 1.14
15 Musical aptitude is associated with AVPR1A-haplotypes. PLoS One 2009 1.13
16 Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population. Mol Vis 2006 1.04
17 PAK3 related mental disability: further characterization of the phenotype. Am J Med Genet A 2007 0.99
18 The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study. Mol Vis 2003 0.98
19 Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. Ophthalmic Genet 2005 0.97
20 Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music. PLoS One 2013 0.94
21 Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. Psychiatr Genet 2010 0.94
22 Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet 2010 0.93
23 Lactase persistence, dietary intake of milk, and the risk for prostate cancer in Sweden and Finland. Cancer Epidemiol Biomarkers Prev 2007 0.93
24 Lactase persistence and ovarian carcinoma risk in Finland, Poland and Sweden. Int J Cancer 2005 0.93
25 Lactase non-persistence and milk consumption in Estonia. World J Gastroenterol 2006 0.93
26 Lack of complement inhibitors in the outer intracranial artery aneurysm wall associates with complement terminal pathway activation. Am J Pathol 2010 0.92
27 Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay. Genomics 2005 0.91
28 Lactase persistence genotypes and malaria susceptibility in Fulani of Mali. Malar J 2011 0.90
29 Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music. J Hum Genet 2011 0.89
30 Acquisition of complement factor H is important for pathogenesis of Streptococcus pyogenes infections: evidence from bacterial in vitro survival and human genetic association. J Immunol 2011 0.89
31 MECP2 mutation analysis in patients with mental retardation. Am J Med Genet A 2005 0.89
32 Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds. Mol Vis 2007 0.88
33 Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). BMC Gastroenterol 2009 0.87
34 Genetic variant of lactase-persistent C/T-13910 is associated with bone fractures in very old age. J Am Geriatr Soc 2005 0.84
35 Subjective face recognition difficulties, aberrant sensibility, sleeping disturbances and aberrant eating habits in families with Asperger syndrome. BMC Psychiatry 2005 0.84
36 Complement factor H Y402H polymorphism and characteristics of exudative age-related macular degeneration lesions. Acta Ophthalmol 2007 0.84
37 Lactase non-persistent genotype influences milk consumption and gastrointestinal symptoms in Northern Russians. BMC Gastroenterol 2011 0.83
38 The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population. Eur J Hum Genet 2013 0.83
39 Interleukin 8 promoter polymorphism predicts the initial response to bevacizumab treatment for exudative age-related macular degeneration. Retina 2013 0.83
40 Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1). Prenat Diagn 2003 0.83
41 Variants in CUL4B are associated with cerebral malformations. Hum Mutat 2015 0.82
42 Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD). Autism Res 2011 0.80
43 Exclusion of 14 candidate loci for primary open angle glaucoma in Finnish families. Mol Vis 2004 0.80
44 The -13914G>A variant upstream of the lactase gene (LCT) is associated with lactase persistence/non-persistence. Scand J Clin Lab Invest 2010 0.79
45 Screening of DNA-variants in the properdin gene (CFP) in age-related macular degeneration (AMD). Mol Immunol 2010 0.78
46 Family-based association study of DYX1C1 variants in autism. Eur J Hum Genet 2005 0.77
47 Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause. J Hum Genet 2008 0.77
48 Allelic variants in HTR3C show association with autism. Am J Med Genet B Neuropsychiatr Genet 2009 0.77
49 Genomics approaches to study musical aptitude. Bioessays 2014 0.77
50 Can primary hypolactasia manifest itself after the age of 20 years? A two-decade follow-up study. Scand J Gastroenterol 2008 0.76
51 Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations. J Cyst Fibros 2005 0.76
52 Charting the effects of antioxidant therapy in the diseased brain: focus on "vitamin E deficiency and metabolic deficits in neuronal ceroid lipofuscinosis described by bioinformatics". Physiol Genomics 2002 0.75
53 [Congenital lactase deficiency--a more common disease than previously thought?]. Duodecim 2009 0.75
54 [Identification of susceptibility genes for age-related macular degeneration--a success story of molecular genetics]. Duodecim 2009 0.75
55 Cow milk is not responsible for most gastrointestinal immune-like syndromes--evidence from a population-based study. Am J Clin Nutr 2005 0.75
56 [Current status of genome research on open-angle glaucoma in Finland]. Duodecim 2011 0.75
57 [Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. Duodecim 2014 0.75
58 [New knowledge about lactose intolerance]. Duodecim 2002 0.75
59 [Properdin mutations a risk factor for meningitis]. Duodecim 2010 0.75