Whole genome amplification and real-time PCR in forensic casework.

Human skin microbiota: high diversity of DNA viruses identified on the human skin by high throughput sequencing. PLoS One (2012) 1.78

Genome of the pathogen Porphyromonas gingivalis recovered from a biofilm in a hospital sink using a high-throughput single-cell genomics platform. Genome Res (2013) 1.35

Exome sequencing from nanogram amounts of starting DNA: comparing three approaches. PLoS One (2014) 1.12

Characterization of whole genome amplified (WGA) DNA for use in genotyping assay development. BMC Genomics (2012) 0.99

Impact of whole-genome amplification on the reliability of pre-transfer cattle embryo breeding value estimates. BMC Genomics (2014) 0.84

Amp-PCR: combining a random unbiased Phi29-amplification with a specific real-time PCR, performed in one tube to increase PCR sensitivity. PLoS One (2010) 0.75

Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci U S A (2002) 13.58

Rapid amplification of plasmid and phage DNA using Phi 29 DNA polymerase and multiply-primed rolling circle amplification. Genome Res (2001) 10.55

Whole genome amplification: abundant supplies of DNA from precious samples or clinical specimens. Trends Biotechnol (2003) 3.15

Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA. Nucleic Acids Res (2003) 1.99

Multiple displacement amplification to create a long-lasting source of DNA for genetic studies. Hum Mutat (2006) 1.86

Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod (1995) 1.52

Developmental validation of a single-tube amplification of the 13 CODIS STR loci, D2S1338, D19S433, and amelogenin: the AmpFlSTR Identifiler PCR Amplification Kit. J Forensic Sci (2004) 1.51

Optimization and evaluation of single-cell whole-genome multiple displacement amplification. Hum Mutat (2006) 1.48

Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification. Electrophoresis (2005) 1.45

Effects of DNA mass on multiple displacement whole genome amplification and genotyping performance. BMC Biotechnol (2005) 1.36

Forensic aspects of mass disasters: strategic considerations for DNA-based human identification. Leg Med (Tokyo) (2005) 1.35

Performance of amplified DNA in an Illumina GoldenGate BeadArray assay. Cancer Epidemiol Biomarkers Prev (2008) 1.32

Analysis of artificially degraded DNA using STRs and SNPs--results of a collaborative European (EDNAP) exercise. Forensic Sci Int (2005) 1.21

Challenges of DNA profiling in mass disaster investigations. Croat Med J (2005) 1.19

Comparison of two whole genome amplification methods for STR genotyping of LCN and degraded DNA samples. Forensic Sci Int (2006) 1.03

Reliability of high-throughput genotyping of whole genome amplified DNA in SNP genotyping studies. Electrophoresis (2007) 1.03

Whole-genome amplification: relative efficiencies of the current methods. Leg Med (Tokyo) (2005) 1.00

Blood samples: probability of discrimination. J Forensic Sci Soc (1972) 0.95

Decreasing amplification bias associated with multiple displacement amplification and short tandem repeat genotyping. Anal Biochem (2007) 0.93

Whole genome amplification from a single cell: a new era for preimplantation genetic diagnosis. Prenat Diagn (2007) 0.91

The utility of whole genome amplification for typing compromised forensic samples. J Forensic Sci (2006) 0.88

Frequency assessment of SNPs for forensic identification in different populations. Forensic Sci Int Genet (2007) 0.80

In silico and in vitro comparative analysis to select, validate and test SNPs for human identification. BMC Genomics (2007) 0.79

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet (2010) 2.56

Lectin-like, oxidized low-density lipoprotein receptor-1 (LOX-1): a critical player in the development of atherosclerosis and related disorders. Cardiovasc Res (2005) 2.30

MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1. Circulation (2009) 2.05

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82

Awake thoracoscopic biopsy of interstitial lung disease. Ann Thorac Surg (2012) 1.82

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet (2002) 1.57

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics. Hum Genet (2008) 1.57

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum Mol Genet (2005) 1.54

Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study. Intensive Care Med (2007) 1.50

Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell (2007) 1.43

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum Mol Genet (2002) 1.42

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet (2002) 1.41

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. Neuroepidemiology (2016) 1.39

Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics (2005) 1.34

CYP4F2 genetic variant (rs2108622) significantly contributes to warfarin dosing variability in the Italian population. Pharmacogenomics (2009) 1.32

Randomized comparison of awake nonresectional versus nonawake resectional lung volume reduction surgery. J Thorac Cardiovasc Surg (2011) 1.29

In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction. Circ Res (2005) 1.20

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. J Transl Med (2010) 1.13

The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians. Pancreas (2011) 1.12

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet (2013) 1.09

Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab (2009) 1.08

A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab (2010) 1.07

Nevirapine-induced hepatotoxicity and pharmacogenetics: a retrospective study in a population from Mozambique. Pharmacogenomics (2010) 1.06

Allelic variants in the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose effect of warfarin in Italians. Pharmacogenomics (2007) 1.05

Shared phenotypes among segmental progeroid syndromes suggest underlying pathways of aging. J Gerontol A Biol Sci Med Sci (2005) 1.04

Sequence-specific modification of genomic DNA by small DNA fragments. J Clin Invest (2003) 1.02

Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees. Hum Genet (2002) 1.01

The splice variant LOXIN inhibits LOX-1 receptor function through hetero-oligomerization. J Mol Cell Cardiol (2007) 1.00

Lamin A precursor induces barrier-to-autointegration factor nuclear localization. Cell Cycle (2010) 1.00

TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis development. Immunogenetics (2013) 0.99

Oxidized LDL receptor 1 (OLR1) as a possible link between obesity, dyslipidemia and cancer. PLoS One (2011) 0.97

Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab (2007) 0.97

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease. Neurobiol Dis (2006) 0.96

Drugs affecting prelamin A processing: effects on heterochromatin organization. Exp Cell Res (2007) 0.95

Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. PLoS One (2008) 0.95

Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations. Curr Genomics (2008) 0.95

Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. Muscle Nerve (2005) 0.94

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. J Invest Dermatol (2010) 0.94

Low doses of dexamethasone constantly delivered by autologous erythrocytes slow the progression of lung disease in cystic fibrosis patients. Blood Cells Mol Dis (2004) 0.94

Past, present and future of forensic DNA typing. Nanomedicine (Lond) (2011) 0.94

TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy. Acta Diabetol (2012) 0.94

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. Muscle Nerve (2008) 0.93

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Biochim Biophys Acta (2005) 0.93

Valproic acid induces neuroendocrine differentiation and UGT2B7 up-regulation in human prostate carcinoma cell line. Drug Metab Dispos (2007) 0.93

Functional analysis and molecular dynamics simulation of LOX-1 K167N polymorphism reveal alteration of receptor activity. PLoS One (2009) 0.92

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients. Genet Test (2007) 0.92

Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21. Hum Hered (2006) 0.91

TRAF3IP2 gene is associated with cutaneous extraintestinal manifestations in inflammatory bowel disease. J Crohns Colitis (2012) 0.91

Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis. Arthritis Rheum (2013) 0.91

In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique. BMC Med Genet (2002) 0.90

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet (2011) 0.90

Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population. J Invest Dermatol (2004) 0.90

Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population. Eur J Dermatol (2002) 0.90

Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus. Arthritis Rheum (2011) 0.90

Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development. Gene (2007) 0.89

Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2003) 0.89

Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. Am J Med Genet A (2005) 0.89

Cholesterol-lowering drugs inhibit lectin-like oxidized low-density lipoprotein-1 receptor function by membrane raft disruption. Mol Pharmacol (2012) 0.89

Biomarkers in COPD. Pulm Pharmacol Ther (2010) 0.89

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet (2014) 0.89

Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. Gene Expr (2007) 0.88

IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy. Mol Med (2012) 0.88

R501X and 2282del4 filaggrin mutations do not confer susceptibility to psoriasis and atopic dermatitis in Italian patients. Dermatology (2008) 0.88

Interleukin 12B (IL12B) genetic variation and pulmonary tuberculosis: a study of cohorts from The Gambia, Guinea-Bissau, United States and Argentina. PLoS One (2011) 0.88

MicroRNA genetic variations: association with type 2 diabetes. Acta Diabetol (2013) 0.88

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat (2004) 0.87

Production of octadienal in the marine diatom Skeletonema costatum. Org Lett (2003) 0.87

Association between CYP2B6 polymorphisms and Nevirapine-induced SJS/TEN: a pharmacogenetics study. Eur J Clin Pharmacol (2013) 0.87

De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J Med Genet A (2012) 0.87

Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study. Am J Med Genet B Neuropsychiatr Genet (2004) 0.87

Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi. Cloning Stem Cells (2009) 0.87

The Pharmacogenomic HLA Biomarker Associated to Adverse Abacavir Reactions: Comparative Analysis of Different Genotyping Methods. Curr Genomics (2012) 0.87

Effects of dutasteride on the expression of genes related to androgen metabolism and related pathway in human prostate cancer cell lines. Invest New Drugs (2007) 0.87

Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants. Neurogenetics (2003) 0.86

A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2. Diagn Mol Pathol (2004) 0.86

Further evidence that polymorphisms of the OLR1 gene are associated with susceptibility to coronary artery disease and myocardial infarction. Nutr Metab Cardiovasc Dis (2007) 0.86

Androgen-regulated genes differentially modulated by the androgen receptor coactivator L-dopa decarboxylase in human prostate cancer cells. Mol Cancer (2007) 0.86

Fractionated ionizing radiation exposure induces apoptosis through caspase-3 activation and reactive oxygen species generation. Anticancer Res (2007) 0.86

ATG16L1 Ala197Thr is not associated with susceptibility to Crohn's disease or with phenotype in an Italian population. Gastroenterology (2008) 0.85

The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation. Cell Cycle (2008) 0.85

Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist. BMC Genomics (2010) 0.85

Genomics of cardiac remodeling in angiotensin II-treated wild-type and LOX-1-deficient mice. Physiol Genomics (2010) 0.85

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy. BMC Med Genet (2004) 0.85

Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice. Cardiovasc Pathol (2008) 0.85

Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes. Acta Diabetol (2014) 0.84

A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01. Electrophoresis (2010) 0.84

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC). Neuromuscul Disord (2002) 0.84

Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population. Arch Ophthalmol (2009) 0.84

In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement. Hum Gene Ther (2005) 0.84