PubRank

Arthur L Beaudet

Author PubWeight™ 194.76‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013 15.85
2 The NIH Roadmap Epigenomics Mapping Consortium. Nat Biotechnol 2010 13.99
3 Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011 10.61
4 Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012 4.97
5 Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 2008 4.10
6 Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One 2007 3.53
7 Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 2005 3.39
8 Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2009 3.33
9 Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007 3.08
10 Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 2010 2.93
11 Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A 2006 2.86
12 Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 2006 2.78
13 Epigenetics and human disease. Annu Rev Genomics Hum Genet 2004 2.78
14 The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet 2007 2.60
15 Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report. Pediatrics 2010 2.45
16 Increased LIS1 expression affects human and mouse brain development. Nat Genet 2009 2.45
17 Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet 2011 2.38
18 Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med 2008 2.36
19 Acute toxicity after high-dose systemic injection of helper-dependent adenoviral vectors into nonhuman primates. Hum Gene Ther 2004 2.32
20 Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 2008 2.00
21 Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 2007 1.98
22 A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet 2009 1.98
23 Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J Neurosci 2003 1.93
24 Control of leukocyte rolling velocity in TNF-alpha-induced inflammation by LFA-1 and Mac-1. Blood 2002 1.92
25 Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 2007 1.85
26 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
27 A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A 2004 1.79
28 Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 2009 1.78
29 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 2013 1.76
30 Lethal toxicity, severe endothelial injury, and a threshold effect with high doses of an adenoviral vector in baboons. Hum Gene Ther 2002 1.69
31 Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat 2010 1.66
32 Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 2006 1.63
33 Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions. Genome Res 2009 1.52
34 Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet 2007 1.52
35 Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A 2008 1.51
36 Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapy. Mol Ther 2007 1.50
37 Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol 2005 1.46
38 Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet 2003 1.42
39 Copy number and SNP arrays in clinical diagnostics. Annu Rev Genomics Hum Genet 2011 1.41
40 Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primates. Mol Ther 2008 1.40
41 Increased hepatic transduction with reduced systemic dissemination and proinflammatory cytokines following hydrodynamic injection of helper-dependent adenoviral vectors. Mol Ther 2005 1.40
42 Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS One 2010 1.37
43 Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Proc Natl Acad Sci U S A 2005 1.36
44 Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A 2005 1.35
45 Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008 1.35
46 Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med 2012 1.33
47 Sustained phenotypic correction of canine hemophilia B after systemic administration of helper-dependent adenoviral vector. Hum Gene Ther 2005 1.32
48 Intercellular adhesion molecule-1 expression is required on multiple cell types for the development of experimental autoimmune encephalomyelitis. J Immunol 2007 1.31
49 Human disorders of ubiquitination and proteasomal degradation. Curr Opin Pediatr 2004 1.31
50 Microarray analysis for constitutional cytogenetic abnormalities. Genet Med 2007 1.30
51 Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain. Genes Dev 2006 1.27
52 Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum Mol Genet 2012 1.26
53 Involvement of the alpha3 subunit in central nicotinic binding populations. J Neurosci 2002 1.26
54 Mac-1, but not LFA-1, uses intercellular adhesion molecule-1 to mediate slow leukocyte rolling in TNF-alpha-induced inflammation. J Immunol 2003 1.25
55 Gene transfer of CFTR to airway epithelia: low levels of expression are sufficient to correct Cl- transport and overexpression can generate basolateral CFTR. Am J Physiol Lung Cell Mol Physiol 2005 1.25
56 Aneuploidy as a mechanism for stress-induced liver adaptation. J Clin Invest 2012 1.23
57 Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum Mol Genet 2011 1.22
58 NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res 2013 1.21
59 Autism: highly heritable but not inherited. Nat Med 2007 1.20
60 Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primates. Hum Gene Ther 2006 1.18
61 Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures. Physiol Genomics 2004 1.17
62 Leukocyte migration in adipose tissue of mice null for ICAM-1 and Mac-1 adhesion receptors. Obes Res 2004 1.17
63 Receptor-mediated tobacco toxicity: regulation of gene expression through alpha3beta2 nicotinic receptor in oral epithelial cells. Am J Pathol 2005 1.14
64 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am J Med Genet A 2011 1.14
65 Long-term correction of ornithine transcarbamylase deficiency by WPRE-mediated overexpression using a helper-dependent adenovirus. Mol Ther 2004 1.12
66 Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet 2011 1.07
67 Cognitive and adaptive behavior profiles of children with Angelman syndrome. Am J Med Genet A 2004 1.05
68 E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta. J Clin Invest 2010 1.05
69 Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes. J Natl Cancer Inst 2008 1.05
70 Generation of helper-dependent adenoviral vectors by homologous recombination. Mol Ther 2002 1.05
71 Requirement of nicotinic acetylcholine receptor subunit beta2 in the maintenance of spiral ganglion neurons during aging. J Neurosci 2005 1.02
72 Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet 2013 1.00
73 Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med 2012 0.99
74 Central role of fibroblast alpha3 nicotinic acetylcholine receptor in mediating cutaneous effects of nicotine. Lab Invest 2003 0.98
75 Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res 2013 0.96
76 Reduced inflammation and improved airway expression using helper-dependent adenoviral vectors with a K18 promoter. Mol Ther 2003 0.96
77 Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A 2010 0.96
78 Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign. J Clin Microbiol 2002 0.96
79 High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy. BMC Med Genet 2011 0.95
80 Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenat Diagn 2008 0.95
81 Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction. Mol Cell Biol 2002 0.95
82 A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A 2011 0.94
83 Differential requirement for CD18 in T-helper effector homing. Nat Med 2003 0.94
84 Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A 2011 0.94
85 TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet 2013 0.93
86 Mouse imprinting defect mutations that model Angelman syndrome. Genesis 2006 0.92
87 Evidence for translational regulation of the imprinted Snurf-Snrpn locus in mice. Hum Mol Genet 2002 0.92
88 Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet 2012 0.91
89 Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res 2014 0.90
90 Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn 2012 0.90
91 Helper-dependent adenoviral vector-mediated long-term expression of human apolipoprotein A-I reduces atherosclerosis in apo E-deficient mice. Gene 2004 0.90
92 Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping? Prenat Diagn 2009 0.90
93 Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells. Genesis 2003 0.90
94 A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr 2010 0.90
95 ARID4A and ARID4B regulate male fertility, a functional link to the AR and RB pathways. Proc Natl Acad Sci U S A 2013 0.88
96 Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. Mol Cytogenet 2012 0.87
97 Synergistic control of keratinocyte adhesion through muscarinic and nicotinic acetylcholine receptor subtypes. Exp Cell Res 2004 0.87
98 Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors. Neurogenetics 2004 0.86
99 Helper-dependent adenoviral vectors. Methods Enzymol 2002 0.86
100 Comparative genomic hybridization and prenatal diagnosis. Curr Opin Obstet Gynecol 2006 0.85
101 Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem 2002 0.84
102 The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations. Autism Res 2009 0.84
103 Neurocognitive findings in Prader-Willi syndrome and early-onset morbid obesity. J Pediatr 2006 0.84
104 Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics 2008 0.83
105 An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice. PLoS One 2012 0.83
106 Angelman syndrome: Drugs to awaken a paternal gene. Nature 2011 0.82
107 Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors. Hum Gene Ther 2011 0.81
108 Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. J Mol Diagn 2009 0.81
109 Complex imprinting. Nat Genet 2004 0.79
110 A gene fusion method to screen for regulatory effects on gene expression: application to the LDL receptor. Hum Mol Genet 2002 0.78
111 Production of helper-dependent adenovirus vector relies on helper virus structure and complementing. J Gene Med 2002 0.78
112 Using fetal cells for prenatal diagnosis: History and recent progress. Am J Med Genet C Semin Med Genet 2016 0.76
113 Some, but not complete, reassurance on the safety of folic acid fortification. Am J Clin Nutr 2010 0.75
114 Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. Am J Med Genet A 2012 0.75
115 Index of suspicion. Pediatr Rev 2008 0.75