PubRank

Jacques S Beckmann

Author PubWeight™ 280.81‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010 23.08
2 Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010 20.01
3 Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet 2008 16.92
4 Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 2008 15.94
5 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 2011 13.25
6 Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 2009 12.44
7 Variants in MTNR1B influence fasting glucose levels. Nat Genet 2008 10.85
8 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet 2010 7.94
9 Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study. Gastroenterology 2010 7.86
10 FoldIndex: a simple tool to predict whether a given protein sequence is intrinsically unfolded. Bioinformatics 2005 5.44
11 Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet 2009 4.97
12 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet 2012 4.73
13 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet 2012 4.37
14 Common genetic variation and the control of HIV-1 in humans. PLoS Genet 2009 3.68
15 A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet 2002 3.52
16 Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med 2011 3.46
17 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 2011 3.40
18 Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet 2011 3.10
19 Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet 2013 2.92
20 Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet 2013 2.83
21 Seventy-five genetic loci influencing the human red blood cell. Nature 2012 2.77
22 FTO genotype is associated with phenotypic variability of body mass index. Nature 2012 2.77
23 Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet 2011 2.73
24 CUBN is a gene locus for albuminuria. J Am Soc Nephrol 2011 2.70
25 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 2.59
26 KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 2012 2.47
27 Mendelian disorders deserve more attention. Nat Rev Genet 2006 2.36
28 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012 2.12
29 Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase. Hypertension 2011 1.89
30 The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One 2008 1.76
31 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet 2013 1.72
32 Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD. PLoS Genet 2011 1.68
33 Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet 2010 1.67
34 A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet 2012 1.63
35 Use of a combined ex vivo/in vivo population approach for screening of human genes involved in the human immunodeficiency virus type 1 life cycle for variants influencing disease progression. J Virol 2005 1.62
36 Sharing data between LSDBs and central repositories. Hum Mutat 2009 1.57
37 Intracellular stress signaling pathways activated during human islet preparation and following acute cytokine exposure. Diabetes 2004 1.55
38 A modular approach for integrative analysis of large-scale gene-expression and drug-response data. Nat Biotechnol 2008 1.55
39 CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet 2003 1.54
40 Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest 2008 1.45
41 Proteomic signatures: amino acid and oligopeptide compositions differentiate among phyla. Proteins 2004 1.45
42 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 2002 1.36
43 Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 2002 1.32
44 Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy. Pharmacogenet Genomics 2007 1.25
45 Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. PLoS Genet 2010 1.25
46 Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat 2013 1.23
47 In vitro whole-genome analysis identifies a susceptibility locus for HIV-1. PLoS Biol 2008 1.22
48 Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet 2009 1.21
49 Genome-wide prediction of matrix attachment regions that increase gene expression in mammalian cells. Nat Methods 2007 1.21
50 AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia. Eur J Hum Genet 2006 1.19
51 Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet 2009 1.16
52 Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proc Natl Acad Sci U S A 2013 1.13
53 Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma. PLoS One 2011 1.09
54 SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet 2013 1.09
55 Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet 2005 1.07
56 A multi-SNP locus-association method reveals a substantial fraction of the missing heritability. Am J Hum Genet 2012 1.07
57 Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta 2006 1.05
58 Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations. Hum Mol Genet 2008 1.05
59 Six and Eya expression during human somitogenesis and MyoD gene family activation. J Muscle Res Cell Motil 2002 1.04
60 Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet 2010 1.03
61 Peroxisomal and microsomal lipid pathways associated with resistance to hepatic steatosis and reduced pro-inflammatory state. J Biol Chem 2010 1.03
62 Methods for testing association between uncertain genotypes and quantitative traits. Biostatistics 2010 1.02
63 Novel method to estimate the phenotypic variation explained by genome-wide association studies reveals large fraction of the missing heritability. Genet Epidemiol 2011 1.02
64 Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat 2011 1.01
65 The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet 2011 1.01
66 Cell-permeable peptides induce dose- and length-dependent cytotoxic effects. Biochim Biophys Acta 2007 1.00
67 Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans. Muscle Nerve 2003 0.99
68 A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. Hum Mutat 2009 0.99
69 Cardiovascular response to beta-adrenergic blockade or activation in 23 inbred mouse strains. PLoS One 2009 0.99
70 Association between C-reactive protein and adiposity in women. J Clin Endocrinol Metab 2009 0.98
71 Transcription factor CTF1 acts as a chromatin domain boundary that shields human telomeric genes from silencing. Mol Cell Biol 2009 0.98
72 The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. Front Genet 2013 0.96
73 A unique set of SH3-SH3 interactions controls IB1 homodimerization. EMBO J 2006 0.95
74 SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status. Mol Cell Neurosci 2007 0.94
75 High-level transgene expression by homologous recombination-mediated gene transfer. Nucleic Acids Res 2011 0.94
76 Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice. Proteomics 2006 0.93
77 16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn. Pediatr Crit Care Med 2011 0.91
78 Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval. Eur J Hum Genet 2005 0.89
79 Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity. PLoS One 2013 0.88
80 Genome-wide meta-analysis of common variant differences between men and women. Hum Mol Genet 2012 0.88
81 Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence. FASEB J 2010 0.88
82 Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration. Swiss Med Wkly 2009 0.88
83 Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. Hum Mol Genet 2011 0.87
84 Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations. Curr Alzheimer Res 2005 0.86
85 Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort. BMC Genomics 2012 0.86
86 Promoter polymorphisms and allelic imbalance in ABCB1 expression. Pharmacogenet Genomics 2007 0.85
87 Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult population. JAMA Psychiatry 2013 0.85
88 Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers. Pharmacogenet Genomics 2007 0.84
89 Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity. Am J Med Genet A 2006 0.84
90 Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene. Hypertension 2013 0.84
91 The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males. Hum Genet 2006 0.83
92 Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin. Nucleic Acids Res 2008 0.83
93 Calcium- and proteasome-dependent degradation of the JNK scaffold protein islet-brain 1. J Biol Chem 2003 0.82
94 Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. Am J Med Genet A 2013 0.82
95 GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics. Hum Mol Genet 2013 0.82
96 Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients. Am J Med Genet A 2008 0.82
97 Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice. PLoS One 2010 0.81
98 Homogeneous and nonradioactive high-throughput screening platform for the characterization of kinase inhibitors in cell lysates. J Biomol Screen 2006 0.81
99 Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. Glia 2013 0.81
100 Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). Ann Hum Genet 2006 0.80
101 Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3. Biochemistry 2009 0.79
102 Caffeine intake and CYP1A2 variants associated with high caffeine intake protect non-smokers from hypertension. Hum Mol Genet 2012 0.79
103 Calcium phosphate transfection generates mammalian recombinant cell lines with higher specific productivity than polyfection. Biotechnol Bioeng 2008 0.79
104 Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia. Psychiatr Genet 2009 0.79
105 Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10. J Neuroinflammation 2012 0.79
106 Association of ABCB1 genetic variants with renal function in Africans and in Caucasians. BMC Med Genomics 2008 0.78
107 A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene. Hum Mutat 2004 0.78
108 Trick or treat: the effect of placebo on the power of pharmacogenetic association studies. Hum Genomics 2005 0.78
109 [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. J Cyst Fibros 2010 0.78
110 Mapping genetic variants associated with beta-adrenergic responses in inbred mice. PLoS One 2012 0.78
111 Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53. Fam Cancer 2011 0.78
112 Recovering frequencies of known haplotype blocks from single-nucleotide polymorphism allele frequencies. Genetics 2004 0.78
113 Computational problems in perfect phylogeny haplotyping: typing without calling the allele. IEEE/ACM Trans Comput Biol Bioinform 2008 0.77
114 Association Down syndrome-retinoblastoma: a new observation. Ophthalmic Genet 2005 0.76
115 Clarity and claims in variation/mutation databasing. Nat Biotechnol 2011 0.75
116 Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genet 2016 0.75
117 Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome? Am J Med Genet A 2009 0.75
118 Automated four-color interphase fluorescence in situ hybridization approach for the simultaneous detection of specific aneuploidies of diagnostic and prognostic significance in high hyperdiploid acute lymphoblastic leukemia. Cancer Genet Cytogenet 2008 0.75
119 MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. Am J Med Genet A 2014 0.75
120 Typing without calling the allele: a strategy for inferring SNP haplotypes. Eur J Hum Genet 2005 0.75
121 On the applicability of a haplotype map to un-assayed populations. Hum Genet 2003 0.75
122 [In Process Citation]. Rev Med Suisse 2016 0.75