Published in Stem Cells Transl Med on February 03, 2014
Voltage-Gated Na+ Channels: Not Just for Conduction. Cold Spring Harb Perspect Biol (2016) 1.01
Large-Scale Phenotype-Based Antiepileptic Drug Screening in a Zebrafish Model of Dravet Syndrome(1,2,3). eNeuro (2015) 0.84
Stepwise Differentiation of Retinal Ganglion Cells from Human Pluripotent Stem Cells Enables Analysis of Glaucomatous Neurodegeneration. Stem Cells (2016) 0.82
Human Pluripotent Stem Cell-Derived Retinal Ganglion Cells: Applications for the Study and Treatment of Optic Neuropathies. Curr Ophthalmol Rep (2015) 0.78
Stem cell-based regenerative opportunities for the liver: State of the art and beyond. World J Gastroenterol (2015) 0.77
Biology and mechano-response of tendon cells: Progress overview and perspectives. J Orthop Res (2015) 0.76
Regeneration through Reprogramming Adult Cell Identity in Vivo. Am J Pathol (2015) 0.76
Discovery, Development, and Adoption of Medications to Treat Alcohol Use Disorder: Goals for the Phases of Medications Development. Alcohol Clin Exp Res (2016) 0.75
Increasing The Genetic Admixture of Available Lines of Human Pluripotent Stem Cells. Sci Rep (2016) 0.75
Looking to the future following 10 years of induced pluripotent stem cell technologies. Nat Protoc (2016) 0.75
Novel therapeutic approaches: Rett syndrome and human induced pluripotent stem cell technology. Stem Cell Investig (2017) 0.75
Using hiPSCs to model neuropsychiatric copy number variations (CNVs) has potential to reveal underlying disease mechanisms. Brain Res (2015) 0.75
The Promise and Challenge of Induced Pluripotent Stem Cells for Cardiovascular Applications. JACC Basic Transl Sci (2016) 0.75
Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell (2007) 101.42
Induced pluripotent stem cell lines derived from human somatic cells. Science (2007) 71.50
Human induced pluripotent stem cells free of vector and transgene sequences. Science (2009) 17.16
Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature (2008) 12.21
Somatic coding mutations in human induced pluripotent stem cells. Nature (2011) 9.50
Virus-free induction of pluripotency and subsequent excision of reprogramming factors. Nature (2009) 9.29
Cerebral organoids model human brain development and microcephaly. Nature (2013) 9.07
Induced pluripotent stem cells and embryonic stem cells are distinguished by gene expression signatures. Cell Stem Cell (2009) 8.62
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell (2010) 7.51
Modelling schizophrenia using human induced pluripotent stem cells. Nature (2011) 7.41
Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency. Proc Natl Acad Sci U S A (2010) 7.31
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. Nature (2009) 7.04
Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture. Cell Stem Cell (2011) 6.82
Highly efficient miRNA-mediated reprogramming of mouse and human somatic cells to pluripotency. Cell Stem Cell (2011) 6.11
Modelling the long QT syndrome with induced pluripotent stem cells. Nature (2011) 5.68
Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome. Proc Jpn Acad Ser B Phys Biol Sci (2009) 5.58
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome. Nature (2011) 4.10
Reprogramming of mouse and human cells to pluripotency using mature microRNAs. Cell Stem Cell (2011) 4.02
Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells. J Clin Invest (2010) 3.91
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat Med (2011) 3.66
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. Sci Transl Med (2012) 3.53
Hemangioblastic derivatives from human induced pluripotent stem cells exhibit limited expansion and early senescence. Stem Cells (2010) 3.48
A human iPSC model of Hutchinson Gilford Progeria reveals vascular smooth muscle and mesenchymal stem cell defects. Cell Stem Cell (2010) 3.41
Growth of engineered human myocardium with mechanical loading and vascular coculture. Circ Res (2011) 3.25
Transcriptional signature and memory retention of human-induced pluripotent stem cells. PLoS One (2009) 3.07
Drug screening for ALS using patient-specific induced pluripotent stem cells. Sci Transl Med (2012) 2.80
Drug screening using a library of human induced pluripotent stem cell-derived cardiomyocytes reveals disease-specific patterns of cardiotoxicity. Circulation (2013) 2.57
Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Aβ and differential drug responsiveness. Cell Stem Cell (2013) 2.32
Modeling familial Alzheimer's disease with induced pluripotent stem cells. Hum Mol Genet (2011) 2.26
Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation. Eur Heart J (2011) 2.18
An efficient nonviral method to generate integration-free human-induced pluripotent stem cells from cord blood and peripheral blood cells. Stem Cells (2013) 2.18
Binding of the positron emission tomography tracer Pittsburgh compound-B reflects the amount of amyloid-beta in Alzheimer's disease brain but not in transgenic mouse brain. J Neurosci (2005) 2.17
A small molecule screen in stem-cell-derived motor neurons identifies a kinase inhibitor as a candidate therapeutic for ALS. Cell Stem Cell (2013) 2.14
Development of a drug screening platform based on engineered heart tissue. Circ Res (2010) 2.04
Target identification and mechanism of action in chemical biology and drug discovery. Nat Chem Biol (2013) 2.01
A human stem cell model of early Alzheimer's disease pathology in Down syndrome. Sci Transl Med (2012) 1.95
Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia. EMBO Mol Med (2012) 1.93
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture. Dis Model Mech (2011) 1.87
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet (2011) 1.87
Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine. Haematologica (2010) 1.79
Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci U S A (2010) 1.78
Efficient generation of functional dopaminergic neurons from human induced pluripotent stem cells under defined conditions. Stem Cells (2010) 1.74
Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression. Nat Biotechnol (2012) 1.74
Studying cardiac arrhythmias in the mouse--a reasonable model for probing mechanisms? Trends Cardiovasc Med (2004) 1.63
Cardiomyocytes generated from CPVTD307H patients are arrhythmogenic in response to β-adrenergic stimulation. J Cell Mol Med (2012) 1.55
Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model. PLoS One (2011) 1.45
Estimating the risk of drug-induced proarrhythmia using human induced pluripotent stem cell-derived cardiomyocytes. Toxicol Sci (2011) 1.45
In vitro pharmacologic testing using human induced pluripotent stem cell-derived cardiomyocytes. Biochem Biophys Res Commun (2009) 1.44
Cardiomyocytes derived from human embryonic and induced pluripotent stem cells: comparative ultrastructure. J Cell Mol Med (2011) 1.30
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotency. Nat Cell Biol (2013) 1.27
Characterization of human-induced pluripotent stem cell-derived cardiomyocytes: bioenergetics and utilization in safety screening. Toxicol Sci (2012) 1.24
Anti-Aβ drug screening platform using human iPS cell-derived neurons for the treatment of Alzheimer's disease. PLoS One (2011) 1.23
Global transcriptional profiles of beating clusters derived from human induced pluripotent stem cells and embryonic stem cells are highly similar. BMC Dev Biol (2010) 1.21
Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin. Hum Mol Genet (2011) 1.20
Altered oxygen metabolism associated to neurogenesis of induced pluripotent stem cells derived from a schizophrenic patient. Cell Transplant (2012) 1.17
Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease. Proc Natl Acad Sci U S A (2012) 1.15
Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations. Mol Psychiatry (2012) 1.14
Induced pluripotent stem cells with a mitochondrial DNA deletion. Stem Cells (2013) 1.13
Dantrolene, a therapeutic agent for malignant hyperthermia, inhibits catecholaminergic polymorphic ventricular tachycardia in a RyR2(R2474S/+) knock-in mouse model. Circ J (2010) 1.12
Drug attrition during pre-clinical and clinical development: understanding and managing drug-induced cardiotoxicity. Pharmacol Ther (2013) 1.11
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. Cell Stem Cell (2013) 1.10
Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome. J Biol Chem (2010) 1.07
A high-throughput screen for Wnt/β-catenin signaling pathway modulators in human iPSC-derived neural progenitors. J Biomol Screen (2012) 1.03
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. Blood (2012) 1.01
Generation of induced pluripotent stem cells from human beta-thalassemia fibroblast cells. Cell Res (2009) 0.96
Pathogenic mutation of ALK2 inhibits induced pluripotent stem cell reprogramming and maintenance: mechanisms of reprogramming and strategy for drug identification. Stem Cells (2012) 0.96
Impedance-based detection of beating rhythm and proarrhythmic effects of compounds on stem cell-derived cardiomyocytes. Assay Drug Dev Technol (2011) 0.93
Wnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells. Proc Natl Acad Sci U S A (2013) 0.88
Generating pluripotent stem cells: differential epigenetic changes during cellular reprogramming. FEBS Lett (2012) 0.86
Myocyte-depleted engineered cardiac tissues support therapeutic potential of mesenchymal stem cells. Tissue Eng Part A (2012) 0.86
Comparison of cardiomyogenic potential among human ESC and iPSC lines. Cell Transplant (2012) 0.85
Compound screening platform using human induced pluripotent stem cells to identify small molecules that promote chondrogenesis. Protein Cell (2012) 0.85
Engineered cardiac organoid chambers: toward a functional biological model ventricle. Tissue Eng Part A (2008) 0.83
Teratogen screening using transcriptome profiling of differentiating human embryonic stem cells. J Cell Mol Med (2010) 0.83
Characterisation of a neural teratogenicity assay based on human ESCs differentiation following exposure to valproic acid. Curr Med Chem (2012) 0.83
The economics of drug discovery and the ultimate valuation of pharmacotherapies in the marketplace. Clin Pharmacol Ther (2008) 0.81
Induced pluripotent stem cell clones reprogrammed via recombinant adeno-associated virus-mediated transduction contain integrated vector sequences. J Virol (2012) 0.80
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet (2003) 5.16
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med (2014) 5.11
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature (2010) 4.38
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. J Exp Med (2008) 3.24
Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet (2005) 3.02
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet (2002) 2.81
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet (2005) 2.75
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics (2010) 2.56
Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood (2004) 2.19
The phosphatase SHP2 regulates the spacing effect for long-term memory induction. Cell (2009) 2.19
Noonan syndrome. Lancet (2013) 2.13
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet (2002) 1.96
Genetics of congenital heart disease: the glass half empty. Circ Res (2013) 1.90
Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab (2011) 1.82
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood (2005) 1.80
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum Mutat (2004) 1.80
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet (2006) 1.78
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
Deficiency and inhibition of cathepsin K reduce body weight gain and increase glucose metabolism in mice. Arterioscler Thromb Vasc Biol (2008) 1.64
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes. J Mol Cell Cardiol (2011) 1.55
Regulation of embryonic and induced pluripotency by aurora kinase-p53 signaling. Cell Stem Cell (2012) 1.54
Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms. Ann N Y Acad Sci (2010) 1.54
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53
Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab (2004) 1.53
Parents and clinicians underestimate distress and depression in children who had a transplant. Pediatr Transplant (2005) 1.50
Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Hum Mol Genet (2008) 1.50
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat (2009) 1.49
Collagenase activity of cathepsin K depends on complex formation with chondroitin sulfate. J Biol Chem (2002) 1.40
Marfan's syndrome and related disorders--more tightly connected than we thought. N Engl J Med (2006) 1.38
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36
Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass. J Bone Miner Res (2006) 1.28
Germ-line and somatic PTPN11 mutations in human disease. Eur J Med Genet (2005) 1.27
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A (2005) 1.19
Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Hum Mol Genet (2002) 1.18
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy. Am Heart J (2013) 1.14
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat (2011) 1.12
Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet (2013) 1.11
Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish. Dev Biol (2004) 1.11
Comparison of parent and child reports of emotional trauma symptoms in pediatric outpatient settings. Pediatrics (2005) 1.11
Cathepsin K deficiency reduces elastase perfusion-induced abdominal aortic aneurysms in mice. Arterioscler Thromb Vasc Biol (2011) 1.11
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. Hum Mol Genet (2006) 1.07
Expression of Tfap2d, the gene encoding the transcription factor Ap-2 delta, during mouse embryogenesis. Gene Expr Patterns (2003) 1.07
Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp Biol Med (Maywood) (2010) 1.06
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. Hum Mutat (2010) 1.05
Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription. Proc Natl Acad Sci U S A (2008) 1.05
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. Hum Mol Genet (2008) 1.04
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Am J Hum Genet (2012) 1.04
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. Am J Hum Genet (2010) 0.99
The genetics of congenital heart disease: a review of recent developments. Curr Opin Cardiol (2007) 0.98
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. Am J Hum Genet (2013) 0.97
Role of copy number variants in structural birth defects. Pediatrics (2012) 0.96
Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association. Circ Cardiovasc Genet (2015) 0.93
Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet (2004) 0.92
Induced pluripotent stem cell-derived cardiomyocytes as models for genetic cardiovascular disorders. Curr Opin Cardiol (2011) 0.92
Economic and safety implications of introducing fast tracking in congenital heart surgery. Circ Cardiovasc Qual Outcomes (2013) 0.92
Novel functional interaction between Na+/H+ exchanger 1 and tyrosine phosphatase SHP-2. Am J Physiol Regul Integr Comp Physiol (2007) 0.89
Signaling to cardiac hypertrophy: insights from human and mouse RASopathies. Mol Med (2012) 0.88
Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis. Dev Biol (2004) 0.88
Evaluation of pulmonary artery banding in the setting of ventricular septal defects and severely elevated pulmonary vascular resistance. Congenit Heart Dis (2006) 0.88
MiST: a new approach to variant detection in deep sequencing datasets. Nucleic Acids Res (2013) 0.84
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. Am J Med Genet A (2014) 0.82
Ablation of cathepsin k activity in the young mouse causes hypermineralization of long bone and growth plates. Calcif Tissue Int (2009) 0.82
Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes. PLoS One (2009) 0.81
The Good SHP2 Association: a porthole into the genetics of congenital heart disease. Circ Cardiovasc Genet (2012) 0.81
Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy. Pediatr Cardiol (2006) 0.80
A trial of vitamin A therapy to facilitate ductal closure in premature infants. J Pediatr (2003) 0.78
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet (2002) 0.78
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. Am J Med Genet A (2015) 0.78
Thiamine pyrophosphate: an essential cofactor in the mammalian metabolism of 3-methyl-branched fatty acids--implications for thiamine deficiencies? Adv Exp Med Biol (2003) 0.78
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. J Biol Chem (2012) 0.77
Genetics of congenital heart disease. Curr Opin Cardiol (2016) 0.77
Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger. Anadolu Kardiyol Derg (2012) 0.75
Multiple thoracic aortic aneurysms after mediastinitis in an infant after repair of coarctation of the aorta. J Thorac Cardiovasc Surg (2008) 0.75