Citation Impact
Citing Papers
Tumor Mutational Burden as an Independent Predictor of Response to Immunotherapy in Diverse Cancers
2017 Standout
Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing
2015
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol
2014
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes
2014
Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism
2013
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
2014 Standout
Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing
2012
A view on drug resistance in cancer
2019 StandoutNature
Non-invasive prenatal measurement of the fetal genome
2012 Nature
Potential diagnostic consequences of applying non‐invasive prenatal testing: population‐based study from a country with existing first‐trimester screening
2013
ACMG statement on noninvasive prenatal screening for fetal aneuploidy
2013
Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis
2013
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
2012
Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer
2013 Standout
Cell-free DNA Analysis for Noninvasive Examination of Trisomy
2015 Standout
Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing
2013
Current and future perspectives of liquid biopsies in genomics-driven oncology
2018 Standout
Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18
2012
Evaluation and comparison of in vitro degradation kinetics of DNA in serum, urine and saliva: A qualitative study
2016
Rapid Short-Read Sequencing and Aneuploidy Detection Using MinION Nanopore Technology
2015
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis
2016
Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States
2015
Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome
2015
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18
2012
The preterm parturition syndrome
2006 Standout
Liquid biopsies come of age: towards implementation of circulating tumour DNA
2017 Standout
FAST-SeqS: A Simple and Efficient Method for the Detection of Aneuploidy by Massively Parallel Sequencing
2012
Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort
2014
Metastatic basal cell carcinoma with amplification of PD-L1: exceptional response to anti-PD1 therapy
2016
An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage
2014 Standout
A guide to deep learning in healthcare
2018 Standout
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
2012
Maternal Plasma Cell-Free Fetal and Maternal DNA at 11-13 Weeks' Gestation: Relation to Fetal and Maternal Characteristics and Pregnancy Outcomes
2013
Coming of age: ten years of next-generation sequencing technologies
2016 Standout
Development of prenatal screening—A historical overview
2016
Managing the care of adults with Down's syndrome
2014
Role of early cell-free DNA levels decrease as a predictive marker of fatal outcome after severe traumatic brain injury
2012
From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges
2012
Non-invasive prenatal testing: a review of international implementation and challenges
2015
High Resolution Size Analysis of Fetal DNA in the Urine of Pregnant Women by Paired-End Massively Parallel Sequencing
2012
Down syndrome
2020 Standout
22q11.2 deletion syndrome
2015 Standout
Disease-targeted sequencing: a cornerstone in the clinic
2013
Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma
2015 Standout
A New Era in Noninvasive Prenatal Testing
2013
NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy
2012
Down Syndrome
2020 Standout
SNP‐based non‐invasive prenatal testing detects sex chromosome aneuploidies with high accuracy
2013
Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities
2013
Transparent Reporting of a multivariable prediction model for Individual Prognosis Or Diagnosis (TRIPOD): Explanation and Elaboration
2015 Standout
Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
2013
Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments
2015
Selective analysis of cell‐free DNA in maternal blood for evaluation of fetal trisomy
2012
Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples
2013
Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors
2013
Genomic Analysis of Fetal Nucleic Acids in Maternal Blood
2012
Circulating Fetal Cell-Free DNA Fractions Differ in Autosomal Aneuploidies and Monosomy X
2013
Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis
2015
Preterm labor: One syndrome, many causes
2014 StandoutScience
Liquid Biopsies: Genotyping Circulating Tumor DNA
2014 Standout
Noninvasive detection of cancer-associated genome-wide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing
2013
First‐trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell‐free DNA testing
2013
Clinical experience of noninvasive prenatal testing with cell‐free DNA for fetal trisomies 21, 18, and 13, in a general screening population
2013
Size-tagged preferred ends in maternal plasma DNA shed light on the production mechanism and show utility in noninvasive prenatal testing
2018
Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing
2012
Implementation of maternal blood cell‐free DNA testing in early screening for aneuploidies
2013
Gestational age and maternal weight effects on fetal cell‐free DNA in maternal plasma
2013
Maternal cfDNA screening for Down syndrome – a cost sensitivity analysis
2013
Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population
2013
Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood
2011
Genes and mutations causing retinitis pigmentosa
2013 Standout
Works of Cosmin Deciu being referenced
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
2012
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
2011
Non-Invasive Prenatal Chromosomal Aneuploidy Testing - Clinical Experience: 100,000 Clinical Samples
2014
Whole genome bisulfite sequencing of cell-free DNA and its cellular contributors uncovers placenta hypomethylated domains
2015
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
2014
DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
2011
High-Throughput Massively Parallel Sequencing for Fetal Aneuploidy Detection from Maternal Plasma
2013
Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma
2012
Noninvasive Detection of Fetal Trisomy 21 by Sequencing of DNA in Maternal Blood: A Study in a Clinical Setting
2011
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma
2013
DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations
2012
Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma
2015
Circulating cell free DNA testing: are some test failures informative?
2014