PubRank

Andrew J Sharp

Author PubWeight™ 68.14‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Fine-scale structural variation of the human genome. Nat Genet 2005 24.31
2 Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008 10.88
3 Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 2006 7.70
4 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009 6.21
5 Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007 2.54
6 High-throughput genotyping of intermediate-size structural variation. Hum Mol Genet 2006 1.61
7 Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome. Mamm Genome 2011 1.19
8 Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet 2013 1.11
9 Dynamics of DNA methylation in recent human and great ape evolution. PLoS Genet 2013 1.07
10 A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats. Hum Mol Genet 2010 1.00
11 Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing. Hum Mutat 2013 0.93
12 The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res 2013 0.92
13 The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome. Behav Brain Res 2010 0.91
14 Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction. Hum Genet 2012 0.91
15 Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing. PLoS One 2009 0.88
16 Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. Hum Mutat 2012 0.88
17 Placental expression profile of imprinted genes impacts birth weight. Epigenetics 2015 0.88
18 The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model. PLoS Genet 2012 0.85
19 Comment on "genomic hypomethylation in the human germline associates with selective structural mutability in the human genome". PLoS Genet 2013 0.84
20 DNA methylation profiling in X;autosome translocations supports a role for L1 repeats in the spread of X chromosome inactivation. Hum Mol Genet 2013 0.82
21 Detection of parent-of-origin specific expression quantitative trait loci by cis-association analysis of gene expression in trios. PLoS One 2012 0.79
22 Expression of imprinted genes in placenta is associated with infant neurobehavioral development. Epigenetics 2015 0.78
23 Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. J Med Genet 2012 0.75
24 Potocki-Lupski syndrome mimicking a connective tissue disorder. Clin Dysmorphol 2008 0.75