PubRank

Samuel Deutsch

Author PubWeight™ 73.33‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genome-wide associations of gene expression variation in humans. PLoS Genet 2005 17.27
2 Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 2009 11.28
3 Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature 2002 5.38
4 Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004 3.58
5 Genetic structure of Europeans: a view from the North-East. PLoS One 2009 3.46
6 Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet 2007 2.62
7 Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites. Am J Hum Genet 2004 1.97
8 Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet 2007 1.86
9 Nineteen additional unpredicted transcripts from human chromosome 21. Genomics 2002 1.80
10 Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. Genome Res 2004 1.75
11 Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. Genome Res 2010 1.67
12 Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat 2004 1.61
13 DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am J Hum Genet 2008 1.45
14 Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis. Am J Med Genet A 2006 1.23
15 In vitro whole-genome analysis identifies a susceptibility locus for HIV-1. PLoS Biol 2008 1.22
16 A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome. Hum Mol Genet 2009 1.20
17 Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. Am J Hum Genet 2006 1.12
18 Superovulation in mice alters the methylation pattern of imprinted genes in the sperm of the offspring. Reprod Toxicol 2009 1.01
19 Pathogenic mutations and polymorphisms in the lipoprotein receptor-related protein 5 reveal a new biological pathway for the control of bone mass. Curr Opin Lipidol 2005 0.97
20 Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior. Am J Med Genet B Neuropsychiatr Genet 2009 0.95
21 The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res 2013 0.92
22 SAR11 bacteria linked to ocean anoxia and nitrogen loss. Nature 2016 0.92
23 Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. Eur J Hum Genet 2012 0.90
24 Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21. Genome Res 2007 0.89
25 Phylogenomically guided identification of industrially relevant GH1 β-glucosidases through DNA synthesis and nanostructure-initiator mass spectrometry. ACS Chem Biol 2014 0.88
26 Promoter polymorphisms and allelic imbalance in ABCB1 expression. Pharmacogenet Genomics 2007 0.85
27 Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Blood 2004 0.84
28 Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin. Nucleic Acids Res 2008 0.83
29 Two new high-resolution crystal structures of carboxysome pentamer proteins reveal high structural conservation of CcmL orthologs among distantly related cyanobacterial species. Photosynth Res 2013 0.82
30 Chromosome 21: a small land of fascinating disorders with unknown pathophysiology. Int J Dev Biol 2002 0.81
31 Transcriptional and post-transcriptional profile of human chromosome 21. Genome Res 2009 0.78
32 Extensive natural variation for cellular hydrogen peroxide release is genetically controlled. PLoS One 2012 0.77
33 Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. Hum Mutat 2009 0.76
34 Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature 2015 0.75
35 Molecular pathology of thalassemia intermedia. Hematol J 2004 0.75