PubRank

Catalina Betancur

Author PubWeight™ 118.35‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003 15.31
2 Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010 14.66
3 Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007 14.05
4 Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012 13.71
5 Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2006 11.14
6 Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013 8.02
7 A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010 3.42
8 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 2012 2.65
9 Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet 2012 2.46
10 A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A 2012 1.85
11 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet 2007 1.65
12 A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet 2011 1.43
13 Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry 2009 1.32
14 Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism 2013 1.32
15 Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet 2006 1.24
16 Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Med Genomics 2008 1.15
17 Shared executive dysfunctions in unaffected relatives of patients with autism and obsessive-compulsive disorder. Eur Psychiatry 2006 1.04
18 A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Mol Autism 2010 1.03
19 Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. PLoS Genet 2013 1.00
20 A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. J Neurodev Disord 2011 0.99
21 Analysis of X chromosome inactivation in autism spectrum disorders. Am J Med Genet B Neuropsychiatr Genet 2008 0.98
22 Parallel loss of hippocampal LTD and cognitive flexibility in a genetic model of hyperdopaminergia. Neuropsychopharmacology 2007 0.98
23 Altered expression of vesicular glutamate transporters VGLUT1 and VGLUT2 in Parkinson disease. Neurobiol Aging 2006 0.97
24 Loss of VGLUT1 and VGLUT2 in the prefrontal cortex is correlated with cognitive decline in Alzheimer disease. Neurobiol Aging 2007 0.96
25 Possible association between the androgen receptor gene and autism spectrum disorder. Psychoneuroendocrinology 2009 0.95
26 Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Eur J Hum Genet 2012 0.94
27 Exploratory analysis of obsessive compulsive symptom dimensions in children and adolescents: a prospective follow-up study. BMC Psychiatry 2006 0.92
28 Increased rate of twins among affected sibling pairs with autism. Am J Hum Genet 2002 0.92
29 The reinforcing effects of chronic D-amphetamine and morphine are impaired in a line of memory-deficient mice overexpressing calcineurin. Eur J Neurosci 2005 0.91
30 Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features. Mol Autism 2012 0.89
31 Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability. Am J Med Genet C Semin Med Genet 2012 0.88
32 [Genetics of autism: from genome scans to candidate genes]. Med Sci (Paris) 2003 0.87
33 No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects. Biol Psychiatry 2006 0.87
34 An investigation of ribosomal protein L10 gene in autism spectrum disorders. BMC Med Genet 2009 0.83
35 Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls. BMC Med Genet 2010 0.82
36 Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. Am J Med Genet A 2010 0.81
37 Clinical utility gene card for: deletion 22q13 syndrome. Eur J Hum Genet 2010 0.80
38 Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder. BMC Med Genet 2010 0.80
39 Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism. Am J Med Genet B Neuropsychiatr Genet 2003 0.79
40 Characterization of SLITRK1 variation in obsessive-compulsive disorder. PLoS One 2013 0.79
41 Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. BMC Med Genet 2007 0.79
42 Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. Am J Med Genet A 2010 0.79
43 Platelet serotonergic markers as endophenotypes for obsessive-compulsive disorder. Neuropsychopharmacology 2005 0.78
44 Investigation of two variants in the DOPA decarboxylase gene in patients with autism. Am J Med Genet 2002 0.78
45 [Alterations in synapsis formation and function in autism disorders]. Med Sci (Paris) 2008 0.77
46 Mutation screening of the ARX gene in patients with autism. Am J Med Genet B Neuropsychiatr Genet 2007 0.76
47 Heterozygous FA2H mutations in autism spectrum disorders. BMC Med Genet 2013 0.76
48 High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters. Mol Autism 2012 0.75