Published in Prenat Diagn on December 01, 2008
Detection and quantification of rare mutations with massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 6.29
Comparison of droplet digital PCR to real-time PCR for quantitative detection of cytomegalovirus. J Clin Microbiol (2012) 2.39
Allele-specific DNA methylation: beyond imprinting. Hum Mol Genet (2010) 1.98
Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield. PLoS One (2011) 0.99
Parthenogenic blastocysts derived from cumulus-free in vitro matured human oocytes. PLoS One (2010) 0.98
An integrative paradigm to impart quality to correlative science. J Transl Med (2010) 0.93
Highly sensitive amplicon-based transcript quantification by semiconductor sequencing. BMC Genomics (2014) 0.87
Tracking fetal development through molecular analysis of maternal biofluids. Biochim Biophys Acta (2012) 0.87
Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met? Expert Rev Mol Med (2011) 0.85
Enabling systems biology approaches through microfabricated systems. Anal Chem (2013) 0.80
Prenatal diagnosis of fetal aneuploidies: post-genomic developments. Genome Med (2010) 0.78
Performance of Droplet Digital PCR in Non-Invasive Fetal RHD Genotyping - Comparison with a Routine Real-Time PCR Based Approach. PLoS One (2015) 0.78
Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies. Mediterr J Hematol Infect Dis (2009) 0.77
Non invasive prenatal diagnosis of aneuploidy: next generation sequencing or fetal DNA enrichment? Balkan J Med Genet (2012) 0.76
Noninvasive Digital Detection of Fetal DNA in Plasma of 4-Week-Pregnant Women following In Vitro Fertilization and Embryo Transfer. PLoS One (2015) 0.75
Maximizing signal-to-noise ratio in the random mutation capture assay. Nucleic Acids Res (2011) 0.75
Quantitative PCR and Digital PCR for Detection of Ascaris lumbricoides Eggs in Reclaimed Water. Biomed Res Int (2017) 0.75
Non-Invasive Screening Tools for Down's Syndrome: A Review. Diagnostics (Basel) (2013) 0.75
Evaluation of Digital PCR as a Technique for Monitoring Acute Rejection in Kidney Transplantation. Genomics Inform (2017) 0.75
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2013) 5.66
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature (2012) 3.08
Placental mesenchymal stem cells as potential autologous graft for pre- and perinatal neuroregeneration. Am J Obstet Gynecol (2006) 3.00
Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol (2009) 2.89
The roles of long-chain polyunsaturated fatty acids in pregnancy, lactation and infancy: review of current knowledge and consensus recommendations. J Perinat Med (2008) 2.70
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet (2004) 2.67
Procedural risks versus theology: chorionic villus sampling for Orthodox Jews at less than 8 weeks' gestation. Am J Obstet Gynecol (2002) 2.56
Induction of neutrophil extracellular DNA lattices by placental microparticles and IL-8 and their presence in preeclampsia. Hum Immunol (2006) 2.54
Depression and anxiety during pregnancy: a risk factor for obstetric, fetal and neonatal outcome? A critical review of the literature. J Matern Fetal Neonatal Med (2007) 2.49
Intact fetal cells in maternal plasma: are they really there? Lancet (2003) 2.09
Germline mosaicism in Cornelia de Lange syndrome. Am J Med Genet A (2012) 2.05
Activated endothelial cells induce neutrophil extracellular traps and are susceptible to NETosis-mediated cell death. FEBS Lett (2010) 2.03
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A (2007) 2.01
Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Clin Chem (2004) 1.79
Sequential pathways of testing after first-trimester screening for trisomy 21. Obstet Gynecol (2004) 1.53
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome. Am J Med Genet A (2005) 1.53
The sFlt-1/PlGF ratio in different types of hypertensive pregnancy disorders and its prognostic potential in preeclamptic patients. Am J Obstet Gynecol (2011) 1.50
In utero haematopoietic stem cell transplantation. Experiences in mice, sheep and humans. Swiss Med Wkly (2006) 1.49
Cesarean section due to fetal distress increases the number of stem cells in umbilical cord blood. Transfusion (2008) 1.45
Potential markers of preeclampsia--a review. Reprod Biol Endocrinol (2009) 1.44
Noninvasive prenatal exclusion of haemoglobin Bart's using foetal DNA from maternal plasma. Prenat Diagn (2010) 1.44
Characterization of riboflavin (vitamin B2) transport proteins from Bacillus subtilis and Corynebacterium glutamicum. J Bacteriol (2007) 1.39
Role of placentally produced inflammatory and regulatory cytokines in pregnancy and the etiology of preeclampsia. Semin Immunopathol (2007) 1.37
Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. Clin Chem (2005) 1.27
Novel real-time quantitative PCR test for trisomy 21. Clin Chem (2002) 1.26
SAFE--the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements. Prenat Diagn (2008) 1.26
Quantitative proteomics analysis of maternal plasma in Down syndrome pregnancies using isobaric tagging reagent (iTRAQ). J Biomed Biotechnol (2009) 1.25
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet (2014) 1.25
Interlaboratory comparison of fetal male DNA detection from common maternal plasma samples by real-time PCR. Clin Chem (2004) 1.23
Hypermethylation of tumor suppressor genes involved in critical regulatory pathways for developing a blood-based test in breast cancer. PLoS One (2011) 1.21
Levels of plasma circulating cell free nuclear and mitochondrial DNA as potential biomarkers for breast tumors. Mol Cancer (2009) 1.20
An overview of biomarkers for the ovarian cancer diagnosis. Eur J Obstet Gynecol Reprod Biol (2011) 1.16
Neutrophil NETs: a novel contributor to preeclampsia-associated placental hypoxia? Semin Immunopathol (2007) 1.15
Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A (2005) 1.14
Decreased mitochondrial DNA content in blood samples of patients with stage I breast cancer. BMC Cancer (2009) 1.14
The level of circulating miRNA-10b and miRNA-373 in detecting lymph node metastasis of breast cancer: potential biomarkers. Tumour Biol (2012) 1.10
Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA (2005) 1.10
Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. Arch Ophthalmol (2006) 1.09
Sirenomelia, the mermaid syndrome--detection in the first trimester. Prenat Diagn (2003) 1.08
Ophthalmologic findings in the Cornelia de Lange Syndrome. J AAPOS (2005) 1.08
Enhanced neutrophil extracellular trap generation in rheumatoid arthritis: analysis of underlying signal transduction pathways and potential diagnostic utility. Arthritis Res Ther (2014) 1.07
Tumor size and detection in breast cancer: Self-examination and clinical breast examination are at their limit. Cancer Detect Prev (2008) 1.06
Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility. J Androl (2008) 1.05
High-throughput hacking of the methylation patterns in breast cancer by in vitro transcription and thymidine-specific cleavage mass array on MALDI-TOF silico-chip. Mol Cancer Res (2008) 1.05
Elevated level of cell-free plasma DNA is associated with breast cancer. Arch Gynecol Obstet (2007) 1.05
Mitochondrial DNA content in paired normal and cancerous breast tissue samples from patients with breast cancer. J Cancer Res Clin Oncol (2009) 1.03
Increased concentrations of antibody-bound circulatory cell-free DNA in rheumatoid arthritis. Clin Chem (2007) 1.03
Diagnosis and treatment of iron-deficiency anaemia during pregnancy and postpartum. Arch Gynecol Obstet (2010) 1.02
Positive correlation of cell-free DNA in plasma/serum in patients with malignant and benign breast disease. Anticancer Res (2008) 1.01
Correlation of telomere length shortening with promoter methylation profile of p16/Rb and p53/p21 pathways in breast cancer. Mod Pathol (2010) 1.01
Epigenetics of ovarian cancer: from the lab to the clinic. Gynecol Oncol (2010) 1.01
NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med (2012) 1.01
The levels of circulatory cell free fetal DNA in maternal plasma are elevated prior to the onset of preeclampsia. Hypertens Pregnancy (2002) 1.00
Levels of circulating cell-free nuclear and mitochondrial DNA in benign and malignant ovarian tumors. Obstet Gynecol (2008) 0.99
The multipotency of luteinizing granulosa cells collected from mature ovarian follicles. Stem Cells (2009) 0.98
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. Prenat Diagn (2007) 0.98
Methylation signature of lymph node metastases in breast cancer patients. BMC Cancer (2012) 0.98
Non-invasive prenatal diagnosis and determination of fetal Rh status. Semin Fetal Neonatal Med (2008) 0.98
Detection of fetal DNA and RNA in placenta-derived syncytiotrophoblast microparticles generated in vitro. Clin Chem (2004) 0.98
Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. Am J Med Genet A (2011) 0.97
Treatment of maternal blood samples with formaldehyde does not alter the proportion of circulatory fetal nucleic acids (DNA and mRNA) in maternal plasma. Clin Chem (2005) 0.97
Methylation profile of TP53 regulatory pathway and mtDNA alterations in breast cancer patients lacking TP53 mutations. Hum Mol Genet (2010) 0.95
Genome-wide DNA methylation analysis in cohesin mutant human cell lines. Nucleic Acids Res (2010) 0.95
Micronutrients and women of reproductive potential: required dietary intake and consequences of dietary deficiency or excess. Part I--Folate, Vitamin B12, Vitamin B6. J Matern Fetal Neonatal Med (2010) 0.95
Cell-free DNA in the circulation as a potential cancer biomarker. Anticancer Res (2011) 0.95
Riboflavin analogs and inhibitors of riboflavin biosynthesis. Appl Microbiol Biotechnol (2006) 0.94
Occurrence of neutrophil extracellular DNA traps (NETs) in pre-eclampsia: a link with elevated levels of cell-free DNA? Ann N Y Acad Sci (2006) 0.94
Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. Am J Med Genet A (2010) 0.93
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat (2009) 0.93