Elena Maestrini

Author PubWeight™ 61.08‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010 14.66
2 Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007 14.05
3 Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013 8.02
4 A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010 3.42
5 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 2012 2.65
6 Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet 2012 2.46
7 Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol Psychiatry 2010 2.07
8 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med 2010 1.75
9 Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection. Am J Med Genet B Neuropsychiatr Genet 2006 1.53
10 A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12. Am J Hum Genet 2009 1.50
11 A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet 2011 1.43
12 MET and autism susceptibility: family and case-control studies. Eur J Hum Genet 2008 1.24
13 Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. Eur J Hum Genet 2009 1.07
14 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Hum Genet 2002 1.06
15 Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. Eur J Hum Genet 2005 0.99
16 Analysis of X chromosome inactivation in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 2008 0.98
17 Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet 2010 0.93
18 Autism spectrum disorders: molecular genetic advances. Am J Med Genet C Semin Med Genet 2006 0.90
19 SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. Eur J Hum Genet 2006 0.85
20 A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. Autism Res 2014 0.84
21 Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment. Am J Med Genet A 2009 0.81
22 Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility. Am J Med Genet A 2015 0.78