PubRank

John B Vincent

Author PubWeight™ 144.32‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008 15.51
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 Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet 2010 8.55
5 Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013 8.02
6 Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011 3.95
7 Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci U S A 2009 3.49
8 A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010 3.42
9 Human chromosome 7: DNA sequence and biology. Science 2003 3.02
10 CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet 2008 2.68
11 A role for common fragile site induction in amplification of human oncogenes. Cancer Cell 2002 2.63
12 Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet 2012 2.46
13 Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1. Nat Genet 2010 2.46
14 Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 2006 2.14
15 A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 2004 1.88
16 Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci Transl Med 2010 1.75
17 CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet 2008 1.67
18 Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet 2009 1.58
19 An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008 1.49
20 The genetic basis of non-syndromic intellectual disability: a review. J Neurodev Disord 2010 1.45
21 A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet 2011 1.43
22 Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 2011 1.35
23 Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. Am J Hum Genet 2012 1.22
24 Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet 2013 1.11
25 Oral administration of the biomimetic [Cr3O(O2CCH2CH3)6(H2O)3]+ increases insulin sensitivity and improves blood plasma variables in healthy and type 2 diabetic rats. J Biol Inorg Chem 2004 1.05
26 Chromium is not an essential trace element for mammals: effects of a "low-chromium" diet. J Biol Inorg Chem 2010 1.05
27 Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. Am J Hum Genet 2009 1.02
28 Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family. Genomics 2003 1.01
29 Characterization of chromodulin by X-ray absorption and electron paramagnetic resonance spectroscopies and magnetic susceptibility measurements. J Am Chem Soc 2003 1.01
30 Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. Hum Mol Genet 2013 0.98
31 Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). Eur J Med Genet 2005 0.96
32 Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. Mol Genet Genomics 2006 0.95
33 Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. Am J Med Genet A 2009 0.95
34 Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. Am J Med Genet B Neuropsychiatr Genet 2014 0.94
35 Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene. Circ Cardiovasc Genet 2012 0.91
36 In vivo distribution of chromium from chromium picolinate in rats and implications for the safety of the dietary supplement. Chem Res Toxicol 2002 0.91
37 Association of alpha4beta2 nicotinic receptor and heavy smoking in schizophrenia. J Psychiatry Neurosci 2007 0.88
38 Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics 2014 0.87
39 Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. Am J Med Genet B Neuropsychiatr Genet 2011 0.87
40 Mixture regression analysis on age at onset in bipolar disorder patients: investigation of the role of serotonergic genes. Eur Neuropsychopharmacol 2010 0.87
41 Admixture analysis of age at onset in bipolar disorder. Psychiatry Res 2010 0.87
42 A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability. BMC Med Genet 2011 0.86
43 Urinary chromium loss associated with diabetes is offset by increases in absorption. J Inorg Biochem 2010 0.86
44 Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 2004 0.85
45 Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Am J Med Genet B Neuropsychiatr Genet 2007 0.85
46 Nutritional supplement chromium picolinate causes sterility and lethal mutations in Drosophila melanogaster. Proc Natl Acad Sci U S A 2003 0.84
47 Histone Variants and Composition in the Developing Brain: Should MeCP2 Care? Curr Top Med Chem 2017 0.83
48 The biomimetic [Cr(3)O(O(2)CCH(2)CH(3))(6)(H(2)O)(3)](+ )decreases plasma insulin, cholesterol, and triglycerides in healthy and type II diabetic rats but not type I diabetic rats. J Biol Inorg Chem 2002 0.83
49 Tissue and subcellular distribution of chromium picolinate with time after entering the bloodstream. J Inorg Biochem 2003 0.83
50 Nutritional supplement chromium picolinate generates chromosomal aberrations and impedes progeny development in Drosophila melanogaster. Mutat Res 2006 0.83
51 Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder. Psychiatr Genet 2009 0.83
52 Mass spectrometric and spectroscopic studies of the nutritional supplement chromium(III) nicotinate. Biol Trace Elem Res 2009 0.83
53 The time-dependent transport of chromium in adult rats from the bloodstream to the urine. J Biol Inorg Chem 2005 0.82
54 Absorption of the biomimetic chromium cation triaqua-mu3-oxo-mu-hexapropionatotrichromium(III) in rats. Biol Trace Elem Res 2004 0.82
55 Comparison of tissue metal concentrations in Zucker lean, Zucker obese, and Zucker diabetic fatty rats and the effects of chromium supplementation on tissue metal concentrations. Biol Trace Elem Res 2012 0.82
56 Low-molecular-weight chromium-binding substance from chicken liver and American alligator liver. Comp Biochem Physiol B Biochem Mol Biol 2006 0.81
57 Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. Genomics 2004 0.81
58 Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family. Hum Genet 2014 0.81
59 The effects of chromium(III) coordination on the dissociation of acidic peptides. J Mass Spectrom 2008 0.81
60 Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder. Hum Genet 2014 0.79
61 Long-term exposure to [Cr(3)O(O (2)CCH (2)CH (3)) (6)(H (2)O) (3)] (+) in Wistar rats fed normal or high-fat diets does not alter glucose metabolism. Biol Trace Elem Res 2012 0.79
62 Do trade-offs have explanatory power for the evolution of organismal interactions? Evolution 2012 0.79
63 Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment. Pharmacol Res 2005 0.78
64 Clinical stringency greatly improves mutation detection in Rett syndrome. Can J Neurol Sci 2005 0.78
65 Effects of pre- and postnatal exposure to chromium picolinate or picolinic acid on neurological development in CD-1 mice. Biol Trace Elem Res 2008 0.78
66 Association analysis of DAOA and DAO in bipolar disorder: results from two independent case-control studies. Bipolar Disord 2010 0.78
67 A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient. Orphanet J Rare Dis 2013 0.78
68 Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder. Psychiatr Genet 2014 0.78
69 Characterization of the organic component of low-molecular-weight chromium-binding substance and its binding of chromium. J Nutr 2011 0.78
70 Adrenergic alpha 2C receptor genomic organization: association study in adult ADHD. Am J Med Genet B Neuropsychiatr Genet 2004 0.77
71 Paramagnetic (19)F NMR and Electrospray Ionization Mass Spectrometric Studies of Substituted Pyridine Complexes of Chromium(III): Models for Potential Use of (19)F NMR to Probe Cr(III)-Nucleotide Interaction. Polyhedron 2013 0.77
72 Urinary chromium excretion in response to an insulin challenge is not a biomarker for chromium status. Biol Trace Elem Res 2013 0.77
73 Comment on: Padmavathi et al. (2010) Chronic maternal dietary chromium restriction modulates visceral adiposity: probable underlying mechanisms. Diabetes;59:98-104. Diabetes 2010 0.77
74 Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet 2008 0.77
75 Effects of transition metal ion coordination on the collision-induced dissociation of polyalanines. J Mass Spectrom 2011 0.77
76 High-dose chromium(III) supplementation has no effects on body mass and composition while altering plasma hormone and triglycerides concentrations. Biol Trace Elem Res 2006 0.76
77 Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability. Psychiatr Genet 2016 0.76
78 Chromosome 7q31 allelic imbalance and somatic mutations of RAY1/ST7 gene in colorectal cancer. Cancer Lett 2004 0.76
79 A comparison of the insulin-sensitive transport of chromium in healthy and model diabetic rats. J Inorg Biochem 2004 0.76
80 De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder. Am J Med Genet A 2004 0.76
81 The fate of the biomimetic cation triaqua-mu-oxohexapropionatotrichromium(III) in rats. J Inorg Biochem 2002 0.76
82 Trophic phylogenetics: evolutionary influences on body size, feeding, and species associations in grassland arthropods. Ecology 2015 0.76
83 Investigation of the genetic interaction between BDNF and DRD3 genes in suicidical behaviour in psychiatric disorders. World J Biol Psychiatry 2014 0.75
84 Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong. Schizophr Res 2007 0.75
85 Monocarboxylate transporters are not responsible for Cr(3+) transport from endosomes. Biol Trace Elem Res 2012 0.75
86 Anticipation and CAG*CTG repeat expansion in schizophrenia and bipolar affective disorder. Curr Psychiatry Rep 2003 0.75
87 Potential of chromium(III) picolinate for reproductive or developmental toxicity following exposure of male CD-1 mice prior to mating. Biol Trace Elem Res 2011 0.75
88 Summaries of plenary and selected symposia sessions at the XXIV World Congress of Psychiatric Genetics; Jerusalem, Israel; 30 October 2016-3 November 2016. Psychiatr Genet 2017 0.75
89 Chromium-containing biomimetic cation triaqua-mu3-oxo-mu-hexapropionatotrichromium(III) inhibits colorectal tumor formation in rats. J Inorg Biochem 2004 0.75
90 Change is 'indicated' for end users. Occup Health Saf 2002 0.75