Published in Nature on July 19, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med (2012) 4.97
The next-generation sequencing revolution and its impact on genomics. Cell (2013) 3.35
Individualized medicine from prewomb to tomb. Cell (2014) 2.76
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid (2015) 2.67
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res (2013) 2.29
The future is now: single-cell genomics of bacteria and archaea. FEMS Microbiol Rev (2013) 2.10
Noninvasive in vivo monitoring of tissue-specific global gene expression in humans. Proc Natl Acad Sci U S A (2014) 2.07
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet (2013) 1.99
High-throughput sequencing for biology and medicine. Mol Syst Biol (2013) 1.75
Genomic testing reaches into the womb. Nat Biotechnol (2013) 1.44
Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing. Nat Genet (2014) 1.28
Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One (2013) 1.28
Advancing the speed, sensitivity and accuracy of biomolecular detection using multi-length-scale engineering. Nat Nanotechnol (2014) 1.18
Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem (2013) 1.11
Towards standardisation of cell-free DNA measurement in plasma: controls for extraction efficiency, fragment size bias and quantification. Anal Bioanal Chem (2014) 1.08
Identification of tissue-specific cell death using methylation patterns of circulating DNA. Proc Natl Acad Sci U S A (2016) 1.06
Depletion of Abundant Sequences by Hybridization (DASH): using Cas9 to remove unwanted high-abundance species in sequencing libraries and molecular counting applications. Genome Biol (2016) 1.00
The political history of PKU: reflections on 50 years of newborn screening. Pediatrics (2013) 0.94
DNA/RNA Detection Using DNA-Templated Few-Atom Silver Nanoclusters. Biosensors (Basel) (2013) 0.93
The scope of prenatal diagnosis for women at increased risk for aneuploidies: views and preferences of professionals and potential users. J Community Genet (2012) 0.89
Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing. Genome Med (2013) 0.88
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia. Eur J Hum Genet (2013) 0.87
Non-invasive prenatal testing for single gene disorders: exploring the ethics. Eur J Hum Genet (2012) 0.87
Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective. Hum Genet (2013) 0.86
Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends. Proc Natl Acad Sci U S A (2016) 0.85
Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects. J Clin Med (2014) 0.85
Noninvasive fetal genome sequencing: a primer. Prenat Diagn (2013) 0.85
Genetic tests: Politics and fetal diagnostics collide. Nature (2012) 0.85
Exome Sequencing in Fetuses with Structural Malformations. J Clin Med (2014) 0.85
High-throughput sequencing and rare genetic diseases. Mol Syndromol (2012) 0.85
Recent advances in the prenatal interrogation of the human fetal genome. Trends Genet (2012) 0.84
De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention. Genome Med (2012) 0.83
Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. Genet Med (2014) 0.83
Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA. Cold Spring Harb Perspect Med (2015) 0.82
Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing. Bioinformatics (2014) 0.82
Developmental stage determines efficiency of gene transfer to muscle satellite cells by in utero delivery of adeno-associated virus vector serotype 2/9. Mol Ther Methods Clin Dev (2014) 0.80
Prenatal diagnostics: Fetal genes in mother's blood. Nature (2012) 0.80
The role of canonical and noncanonical pre-mRNA splicing in plant stress responses. Biomed Res Int (2012) 0.80
Size-selective separation of DNA fragments by using lysine-functionalized silica particles. Sci Rep (2016) 0.78
Long-term persistence and effects of fetal microchimerisms on disease onset and status in a cohort of women with rheumatoid arthritis and systemic lupus erythematosus. BMC Musculoskelet Disord (2013) 0.78
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. J Clin Invest (2015) 0.78
Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders. Cold Spring Harb Perspect Med (2015) 0.78
Genetic counselors and Genomic Counseling in the United Kingdom. Mol Genet Genomic Med (2015) 0.78
Whole genome prediction for preimplantation genetic diagnosis. Genome Med (2015) 0.78
Microelectromechanical systems and nephrology: the next frontier in renal replacement technology. Adv Chronic Kidney Dis (2013) 0.77
From genes to genomes in the clinic. Genome Med (2015) 0.77
Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. Clin Pharmacokinet (2016) 0.77
Old Questions, New Paradigms: Ethical, Legal, and Social Complications of Noninvasive Prenatal Testing. AJOB Empir Bioeth (2015) 0.76
Circulating nucleic acids in plasma and serum: applications in diagnostic techniques for noninvasive prenatal diagnosis. Int J Womens Health (2013) 0.76
Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection caused by Maternal Copy Number Variation. Sci Rep (2015) 0.76
Haplotypes drop by drop. Nat Biotechnol (2016) 0.75
Secrets of life in a spoonful of blood. Nature (2017) 0.75
Prenatal and pre-implantation genetic diagnosis. Nat Rev Genet (2016) 0.75
To know or not to know the genomic sequence of a fetus. Nat Rev Genet (2012) 0.75
Novel window on early human neurodevelopment via fetal exosomes in maternal blood. Ann Clin Transl Neurol (2016) 0.75
Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery. BMC Med (2013) 0.75
Recent advances in prenatal genetic screening and testing. F1000Res (2016) 0.75
TroX: a new method to learn about the genesis of aneuploidy from trisomic products of conception. Bioinformatics (2014) 0.75
A commentary on comparison of the performance of Ion Torrent chips in noninvasive prenatal trisomy detection. J Hum Genet (2014) 0.75
Evaluation of an Improved Non-invasive Fetal Sex Determination in Haemophilia A Patients. J Clin Diagn Res (2015) 0.75
Analysis of single nucleic acid molecules in micro- and nano-fluidics. Lab Chip (2016) 0.75
Getting to know the fetal genome non-invasively: now a reality. Protein Cell (2012) 0.75
Precision medicine driven by cancer systems biology. Cancer Metastasis Rev (2017) 0.75
Applying deep DNA sequencing to common, complex pediatric traits. Pediatrics (2012) 0.75
Noninvasive prenatal testing to analyze the fetal genome. Proc Natl Acad Sci U S A (2016) 0.75
"This lifetime commitment": Public conceptions of disability and noninvasive prenatal genetic screening. Am J Med Genet A (2015) 0.75
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. Sci Rep (2017) 0.75
Assessment of circulating copy number variant detection for cancer screening. PLoS One (2017) 0.75
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A (2008) 8.38
Performance comparison of exome DNA sequencing technologies. Nat Biotechnol (2011) 7.11
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet (1998) 6.88
Whole-genome molecular haplotyping of single cells. Nat Biotechnol (2010) 6.77
Detection and quantification of rare mutations with massively parallel sequencing. Proc Natl Acad Sci U S A (2011) 6.29
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med (2010) 5.54
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med (2011) 4.98
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol (2012) 4.78
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ (2011) 4.50
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol (2011) 4.18
[Not Available]. C R Seances Soc Biol Fil (1948) 3.32
Non-paternity and prenatal genetic screening. Lancet (1991) 3.29
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med (2012) 3.18
Digital PCR provides sensitive and absolute calibration for high throughput sequencing. BMC Genomics (2009) 2.60
Measuring paternal discrepancy and its public health consequences. J Epidemiol Community Health (2005) 2.30
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem (2011) 2.17
Genomics and perinatal care. N Engl J Med (2012) 1.26
A TALE nuclease architecture for efficient genome editing. Nat Biotechnol (2010) 26.47
An improved zinc-finger nuclease architecture for highly specific genome editing. Nat Biotechnol (2007) 17.80
Establishment of HIV-1 resistance in CD4+ T cells by genome editing using zinc-finger nucleases. Nat Biotechnol (2008) 14.75
Single-molecule DNA sequencing of a viral genome. Science (2008) 11.66
Association of reactive oxygen species levels and radioresistance in cancer stem cells. Nature (2009) 10.31
Clinical assessment incorporating a personal genome. Lancet (2010) 10.18
Modes of p53 regulation. Cell (2009) 9.31
Mammalian SIRT1 represses forkhead transcription factors. Cell (2004) 8.89
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A (2008) 8.38
Single-molecule sequencing of an individual human genome. Nat Biotechnol (2009) 8.35
Single-cell dissection of transcriptional heterogeneity in human colon tumors. Nat Biotechnol (2011) 7.84
Dissecting biological "dark matter" with single-cell genetic analysis of rare and uncultivated TM7 microbes from the human mouth. Proc Natl Acad Sci U S A (2007) 7.82
Deubiquitination of p53 by HAUSP is an important pathway for p53 stabilization. Nature (2002) 7.71
Microfluidic large-scale integration. Science (2002) 7.64
Whole-genome molecular haplotyping of single cells. Nat Biotechnol (2010) 6.77
Human hematopoietic stem/progenitor cells modified by zinc-finger nucleases targeted to CCR5 control HIV-1 in vivo. Nat Biotechnol (2010) 6.55
An unbiased genome-wide analysis of zinc-finger nuclease specificity. Nat Biotechnol (2011) 6.44
Enhancing zinc-finger-nuclease activity with improved obligate heterodimeric architectures. Nat Methods (2010) 6.00
Developing optofluidic technology through the fusion of microfluidics and optics. Nature (2006) 5.82
Acetylation is indispensable for p53 activation. Cell (2008) 5.70
Tip60-dependent acetylation of p53 modulates the decision between cell-cycle arrest and apoptosis. Mol Cell (2006) 5.64
p53 ubiquitination: Mdm2 and beyond. Mol Cell (2006) 5.57
Ubiquitination, phosphorylation and acetylation: the molecular basis for p53 regulation. Curr Opin Cell Biol (2003) 5.46
SIRT1 transgenic mice show phenotypes resembling calorie restriction. Aging Cell (2007) 5.30
Single-cell NF-kappaB dynamics reveal digital activation and analogue information processing. Nature (2010) 5.27
Sequence information can be obtained from single DNA molecules. Proc Natl Acad Sci U S A (2003) 5.24
Mono- versus polyubiquitination: differential control of p53 fate by Mdm2. Science (2003) 5.23
Transcription factor profiling in individual hematopoietic progenitors by digital RT-PCR. Proc Natl Acad Sci U S A (2006) 5.21
A systems approach to measuring the binding energy landscapes of transcription factors. Science (2007) 5.06
Tumor suppressor HIC1 directly regulates SIRT1 to modulate p53-dependent DNA-damage responses. Cell (2005) 5.04
Tumor suppression in the absence of p53-mediated cell-cycle arrest, apoptosis, and senescence. Cell (2012) 4.96
SirT1 gain of function increases energy efficiency and prevents diabetes in mice. Cell Metab (2008) 4.89
ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor. Cell (2005) 4.60
Non-transcriptional control of DNA replication by c-Myc. Nature (2007) 4.55
High-throughput sequencing of the zebrafish antibody repertoire. Science (2009) 4.46
Crystal structure of a UBP-family deubiquitinating enzyme in isolation and in complex with ubiquitin aldehyde. Cell (2002) 4.33
Negative regulation of the deacetylase SIRT1 by DBC1. Nature (2008) 4.29
A robust and scalable microfluidic metering method that allows protein crystal growth by free interface diffusion. Proc Natl Acad Sci U S A (2002) 4.16
FoxO1 protects against pancreatic beta cell failure through NeuroD and MafA induction. Cell Metab (2005) 4.14
Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia. Sci Transl Med (2012) 4.05
A dynamic role of HAUSP in the p53-Mdm2 pathway. Mol Cell (2004) 4.05
Genome of a low-salinity ammonia-oxidizing archaeon determined by single-cell and metagenomic analysis. PLoS One (2011) 4.04
Microfluidic digital PCR enables multigene analysis of individual environmental bacteria. Science (2006) 3.84
Tracking single hematopoietic stem cells in vivo using high-throughput sequencing in conjunction with viral genetic barcoding. Nat Biotechnol (2011) 3.81
Single cell profiling of circulating tumor cells: transcriptional heterogeneity and diversity from breast cancer cell lines. PLoS One (2012) 3.74
Long-term monitoring of bacteria undergoing programmed population control in a microchemostat. Science (2005) 3.54
Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm. Cell (2012) 3.52
An integrated microfabricated cell sorter. Anal Chem (2002) 3.43
Acetylation of p53 inhibits its ubiquitination by Mdm2. J Biol Chem (2002) 3.37
Microfluidic large-scale integration: the evolution of design rules for biological automation. Annu Rev Biophys Biomol Struct (2007) 3.32
Versatile, fully automated, microfluidic cell culture system. Anal Chem (2007) 3.19
How does SIRT1 affect metabolism, senescence and cancer? Nat Rev Cancer (2008) 3.17
Lysine propionylation and butyrylation are novel post-translational modifications in histones. Mol Cell Proteomics (2007) 3.09
Acetylation of p53 augments its site-specific DNA binding both in vitro and in vivo. Proc Natl Acad Sci U S A (2004) 3.06
Parc: a cytoplasmic anchor for p53. Cell (2003) 3.06
Acetylation inactivates the transcriptional repressor BCL6. Nat Genet (2002) 3.00
A synthetic Escherichia coli predator-prey ecosystem. Mol Syst Biol (2008) 2.92
The genomic sequence of the Chinese hamster ovary (CHO)-K1 cell line. Nat Biotechnol (2011) 2.87
A Randomized Trial of Intrapartum Fetal ECG ST-Segment Analysis. N Engl J Med (2015) 2.86
Interactions between E2F1 and SirT1 regulate apoptotic response to DNA damage. Nat Cell Biol (2006) 2.85
Multistep synthesis of a radiolabeled imaging probe using integrated microfluidics. Science (2005) 2.83
Nanoliter reactors improve multiple displacement amplification of genomes from single cells. PLoS Genet (2007) 2.79
Temporal response of the human virome to immunosuppression and antiviral therapy. Cell (2013) 2.72
Functional analysis of the roles of posttranslational modifications at the p53 C terminus in regulating p53 stability and activity. Mol Cell Biol (2005) 2.72
Lineage structure of the human antibody repertoire in response to influenza vaccination. Sci Transl Med (2013) 2.71
Integrated nanoliter systems. Nat Biotechnol (2003) 2.68
A local mechanism mediates NAD-dependent protection of axon degeneration. J Cell Biol (2005) 2.64
Partial genome assembly for a candidate division OP11 single cell from an anoxic spring (Zodletone Spring, Oklahoma). Appl Environ Microbiol (2011) 2.61
Digital PCR provides sensitive and absolute calibration for high throughput sequencing. BMC Genomics (2009) 2.60
SIRT1 deacetylation and repression of p300 involves lysine residues 1020/1024 within the cell cycle regulatory domain 1. J Biol Chem (2005) 2.59
p53 post-translational modification: deregulated in tumorigenesis. Trends Mol Med (2010) 2.54
Discovery of a hepatitis C target and its pharmacological inhibitors by microfluidic affinity analysis. Nat Biotechnol (2008) 2.52
Bacterial flora-typing with targeted, chip-based Pyrosequencing. BMC Microbiol (2007) 2.51
Microfluidic single-cell mRNA isolation and analysis. Anal Chem (2006) 2.47
Brown remodeling of white adipose tissue by SirT1-dependent deacetylation of Pparγ. Cell (2012) 2.46
Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing. Clin Chem (2010) 2.38
Structural basis of competitive recognition of p53 and MDM2 by HAUSP/USP7: implications for the regulation of the p53-MDM2 pathway. PLoS Biol (2006) 2.35
Nearly finished genomes produced using gel microdroplet culturing reveal substantial intraspecies genomic diversity within the human microbiome. Genome Res (2013) 2.29
Genetic measurement of memory B-cell recall using antibody repertoire sequencing. Proc Natl Acad Sci U S A (2013) 2.25
Single-cell genomics. Nat Methods (2011) 2.24
Generation of a triple-gene knockout mammalian cell line using engineered zinc-finger nucleases. Biotechnol Bioeng (2010) 2.23
Evolution of the aging brain transcriptome and synaptic regulation. PLoS One (2008) 2.23
A microfluidic processor for gene expression profiling of single human embryonic stem cells. Lab Chip (2007) 2.17
The HIV Env variant N283 enhances macrophage tropism and is associated with brain infection and dementia. Proc Natl Acad Sci U S A (2006) 2.13
Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One (2010) 2.11
Microfluidic memory and control devices. Science (2003) 2.08
Trends in cesarean delivery for twin births in the United States: 1995-2008. Obstet Gynecol (2011) 2.07
Solving the "world-to-chip" interface problem with a microfluidic matrix. Anal Chem (2003) 2.07
Both carboxy-terminus NES motif and mutated tryptophan(s) are crucial for aberrant nuclear export of nucleophosmin leukemic mutants in NPMc+ AML. Blood (2006) 2.06
De novo identification and biophysical characterization of transcription-factor binding sites with microfluidic affinity analysis. Nat Biotechnol (2010) 2.05
Cool-1 functions as an essential regulatory node for EGF receptor- and Src-mediated cell growth. Nat Cell Biol (2006) 2.04
Single-cell DNA-methylation analysis reveals epigenetic chimerism in preimplantation embryos. Science (2013) 2.03
Digital MDA for enumeration of total nucleic acid contamination. Nucleic Acids Res (2010) 2.02
Microfluidics for flow cytometric analysis of cells and particles. Physiol Meas (2005) 2.00