Published in Science on August 26, 2010
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet (2012) 3.41
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
A genomic view of mosaicism and human disease. Nat Rev Genet (2013) 2.67
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. Genome Med (2012) 1.18
Somatic mosaicism: implications for disease and transmission genetics. Trends Genet (2015) 1.08
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Am J Hum Genet (2012) 1.07
Revertant mosaicism in skin: natural gene therapy. Trends Mol Med (2010) 1.03
Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur J Hum Genet (2012) 1.02
Somatic mosaicism in the human genome. Genes (Basel) (2014) 0.99
Cell Competition Modifies Adult Stem Cell and Tissue Population Dynamics in a JAK-STAT-Dependent Manner. Dev Cell (2015) 0.94
Genetics and epigenetics of the skin meet deep sequence. J Invest Dermatol (2012) 0.93
Cell wars: regulation of cell survival and proliferation by cell competition. Essays Biochem (2012) 0.91
A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells. Haematologica (2013) 0.88
Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors. Genes Chromosomes Cancer (2012) 0.86
Noninvasive fetal genome sequencing: a primer. Prenat Diagn (2013) 0.85
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination. J Clin Invest (2012) 0.85
Somatic mosaicism: on the road to cancer. Nat Rev Cancer (2015) 0.83
Revertant mutation releases confined lethal mutation, opening Pandora's box: a novel genetic pathogenesis. PLoS Genet (2014) 0.81
Genetics. Mosaicism--switch or spectrum? Science (2010) 0.81
Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major. Haematologica (2012) 0.80
Gene therapy for skin diseases. Cold Spring Harb Perspect Med (2014) 0.80
Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise. Exp Dermatol (2012) 0.80
Local delivery of gene-modifying triplex-forming molecules to the epidermis. J Invest Dermatol (2012) 0.80
Mosaicism in health and disease - clones picking up speed. Nat Rev Genet (2016) 0.79
Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis. J Invest Dermatol (2015) 0.79
Somatic genetics empowers the mouse for modeling and interrogating developmental and disease processes. PLoS Genet (2011) 0.79
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest (2015) 0.78
Discovery in genetic skin disease: the impact of high throughput genetic technologies. Genes (Basel) (2014) 0.78
Induced pluripotent stem cells in dermatology: potentials, advances, and limitations. Cold Spring Harb Perspect Med (2014) 0.77
Ichthyosis with confetti: clinics, molecular genetics and management. Orphanet J Rare Dis (2015) 0.76
Ichthyosis with confetti: a rare diagnosis and treatment plan. BMJ Case Rep (2014) 0.76
Gene defects in the soma: some get it and some don't! J Clin Invest (2010) 0.75
In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses. Oncotarget (2016) 0.75
Somatic recombination in adult tissues: What is there to learn? Fly (Austin) (2016) 0.75
Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy. Hum Genet (2017) 0.75
Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A (1971) 31.05
Conserved structures and diversity of functions of RNA-binding proteins. Science (1994) 14.75
Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature (1983) 11.57
The Bloom's syndrome gene product is homologous to RecQ helicases. Cell (1995) 9.91
Themes in RNA-protein recognition. J Mol Biol (1999) 3.69
Characterization and isolation of stem cell-enriched human hair follicle bulge cells. J Clin Invest (2006) 3.41
The spatial relationship between stem cells and their progeny in the basal layer of human epidermis: a new view based on whole-mount labelling and lineage analysis. Development (1999) 3.31
Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair. Science (1996) 2.63
Suppression of ocular neovascularization with siRNA targeting VEGF receptor 1. Gene Ther (2006) 1.86
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science (1992) 1.73
In vivo reversion to normal of inherited mutations in humans. J Med Genet (2003) 1.64
An unexpected role for keratin 10 end domains in susceptibility to skin cancer. J Cell Sci (2006) 1.64
Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol (2004) 1.63
Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies. Blood (2010) 1.62
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell (1997) 1.57
The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer. J Biol Chem (1990) 1.44
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. Am J Hum Genet (1995) 1.35
Organization of stem cells and their progeny in human epidermis. J Invest Dermatol (2005) 1.23
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J Clin Invest (1999) 1.17
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Invest (2007) 1.17
The complete sequence of the human intermediate filament chain keratin 10. Subdomainal divisions and model for folding of end domain sequences. J Biol Chem (1988) 1.12
Revertant somatic mosaicism in the Wiskott-Aldrich syndrome. Immunol Res (2009) 1.05
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am J Hum Genet (2005) 1.02
Analysis of the mechanism of assembly of mouse keratin 1/keratin 10 intermediate filaments in vitro suggests that intermediate filaments are built from multiple oligomeric units rather than a unique tetrameric building block. J Struct Biol (1991) 0.97
Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. J Invest Dermatol (2002) 0.96
[Congenital reticular ichthyosiform erythroderma]. Hautarzt (1984) 0.95
Revertant mosaicism in recessive dystrophic epidermolysis bullosa. J Invest Dermatol (2010) 0.92
Fanconi anemia: causes and consequences of genetic instability. Genome Dyn (2006) 0.89
Transcriptional profiling of putative human epithelial stem cells. BMC Genomics (2008) 0.87
Amino acid requirement for the high affinity binding of a selected arginine-rich peptide with the HIV Rev-response element RNA. J Pept Sci (2008) 0.85
A case of congenital reticular ichthyosiform erythroderma--ichthyosis 'en confettis'. Dermatology (1994) 0.83
[Confetti ichthyosis]. Ann Dermatol Venereol (1984) 0.82
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet (2003) 13.33
High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med (2002) 11.28
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (2005) 8.20
Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. JAMA (2007) 7.12
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet (2012) 7.00
Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. N Engl J Med (2010) 6.45
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26
Pten regulates neuronal arborization and social interaction in mice. Neuron (2006) 6.11
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (2011) 5.40
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science (2007) 4.27
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26
WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion. Nat Genet (2003) 4.08
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94
A test of climate, sun, and culture relationships from an 1810-year Chinese cave record. Science (2008) 3.94
Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat Genet (2006) 3.57
Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. Proc Natl Acad Sci U S A (2003) 3.48
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science (2013) 3.45
Genetic and functional studies implicate HIF1α as a 14q kidney cancer suppressor gene. Cancer Discov (2011) 3.45
Endothelial cilia are fluid shear sensors that regulate calcium signaling and nitric oxide production through polycystin-1. Circulation (2008) 3.33
Cell signalling by microRNA165/6 directs gene dose-dependent root cell fate. Nature (2010) 3.19
Lipopenia and skin barrier abnormalities in DGAT2-deficient mice. J Biol Chem (2003) 3.19
Actomyosin-mediated cellular tension drives increased tissue stiffness and β-catenin activation to induce epidermal hyperplasia and tumor growth. Cancer Cell (2011) 3.19
Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
L-histidine decarboxylase and Tourette's syndrome. N Engl J Med (2010) 2.92
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
Interleukin-17 and interferon-gamma are produced concomitantly by human coronary artery-infiltrating T cells and act synergistically on vascular smooth muscle cells. Circulation (2009) 2.77
A homolog of Drosophila grainy head is essential for epidermal integrity in mice. Science (2005) 2.72
Mouse Rev1 protein interacts with multiple DNA polymerases involved in translesion DNA synthesis. EMBO J (2003) 2.69
Akt-RSK-S6 kinase signaling networks activated by oncogenic receptor tyrosine kinases. Sci Signal (2010) 2.64
Experimental model for paroxysmal atrial fibrillation arising at the pulmonary vein-atrial junctions. Heart Rhythm (2006) 2.63
Nomograms for predicting annual resolution rate of primary vesicoureteral reflux: results from 2,462 children. J Urol (2009) 2.59
Molecular physiology of the WNK kinases. Annu Rev Physiol (2008) 2.58
A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab (2008) 2.48
Coupling of human immunodeficiency virus type 1 fusion to virion maturation: a novel role of the gp41 cytoplasmic tail. J Virol (2004) 2.47
Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc (2005) 2.45
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A (2009) 2.41
Neuroendocrine nicotinic receptor activation increases susceptibility to bacterial infections by suppressing antimicrobial peptide production. Cell Host Microbe (2010) 2.39
Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Nat Genet (2008) 2.31
Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway. Proc Natl Acad Sci U S A (2009) 2.30
Flow-Dependent Regulation of Kruppel-Like Factor 2 Is Mediated by MicroRNA-92a. Circulation (2011) 2.29
Prospective study of infantile hemangiomas: clinical characteristics predicting complications and treatment. Pediatrics (2006) 2.28
Liver X receptor activators display anti-inflammatory activity in irritant and allergic contact dermatitis models: liver-X-receptor-specific inhibition of inflammation and primary cytokine production. J Invest Dermatol (2003) 2.26
Characterization of cardiac tumors in children by cardiovascular magnetic resonance imaging: a multicenter experience. J Am Coll Cardiol (2011) 2.24
Roles of the cation-chloride cotransporters in neurological disease. Nat Clin Pract Neurol (2008) 2.19
Basis for the barrier abnormality in atopic dermatitis: outside-inside-outside pathogenic mechanisms. J Allergy Clin Immunol (2008) 2.11
First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. Mol Ther (2009) 2.09
Individual genomes on the horizon. N Engl J Med (2010) 2.09
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet (2013) 2.09
Identification of signaling pathways regulating primary cilium length and flow-mediated adaptation. Curr Biol (2010) 2.08
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet (2006) 2.07
Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps. Differentiation (2006) 2.04
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proc Natl Acad Sci U S A (2013) 2.02
Safety and efficacy of a fish-oil-based fat emulsion in the treatment of parenteral nutrition-associated liver disease. Pediatrics (2008) 2.02
Co-regulation and interdependence of the mammalian epidermal permeability and antimicrobial barriers. J Invest Dermatol (2007) 2.02
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet (2009) 2.02
Structure-based design of novel inhibitors of the MDM2-p53 interaction. J Med Chem (2012) 2.01
Prospective study of infantile hemangiomas: demographic, prenatal, and perinatal characteristics. J Pediatr (2007) 1.96
Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet (2004) 1.96
WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis. Proc Natl Acad Sci U S A (2005) 1.96
Polycystins and mechanosensation in renal and nodal cilia. Bioessays (2004) 1.96
Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction. J Am Soc Nephrol (2006) 1.95
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science (2004) 1.95
Growth characteristics of infantile hemangiomas: implications for management. Pediatrics (2008) 1.95
Ceramide-dominant barrier repair lipids alleviate childhood atopic dermatitis: changes in barrier function provide a sensitive indicator of disease activity. J Am Acad Dermatol (2002) 1.94
Renal injury is a third hit promoting rapid development of adult polycystic kidney disease. Hum Mol Genet (2009) 1.94