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(Click for frequent words.) 70 segmental duplications 70 de novo mutations 70 missense mutations 70 chromosomal translocations 69 phenotypic variation 68 #q#.# [002] 68 mosaicism 67 germline mutations 67 chromosomal rearrangement 67 genomic instability 67 Alu elements 66 paralogs 66 chromosomal aberrations 66 somatic mutations 66 recombination hotspots 66 histone modifications 66 genomic rearrangements 66 microdeletion 65 homozygosity 65 gene rearrangements 65 chromosomal instability 65 miRNA expression 65 microRNA expression 65 indels 65 MLL gene 65 microdeletions 65 LIS1 64 intergenic 64 epigenetic modification 64 chromosomal regions 64 genetic loci 64 mutations 64 MLH1 64 translocations 64 monogenic 64 genetic alterations 64 DSBs 64 KCNH2 64 #p#.# [001] 63 protein isoforms 63 karyotypes 63 somatic mutation 63 gene duplications 63 TCF#L# gene 63 MSH2 63 radial glia 63 chromosomal deletions 63 amino acid substitutions 63 epigenetic silencing 63 MC4R gene 63 mutational 63 micro RNAs 63 miRNA genes 63 spontaneous mutations 63 microcephalin 63 Alternative splicing 63 nucleotide substitutions 63 Kabuki syndrome 63 sporadic ALS 63 methylation patterns 63 synuclein 63 noncoding RNAs 63 mitochondrial gene 63 neuroligins 63 MECP2 gene 63 spontaneous mutation 63 p# mutations 63 indel 62 phenotypic differences 62 microRNAs miRNAs 62 epistasis 62 mutant alleles 62 hypermethylation 62 epigenetic modifications 62 #q# [001] 62 epigenetic changes 62 fungal genomes 62 X inactivation 62 sequence homology 62 metazoan 62 hamartomas 62 DNA methylation patterns 62 insertions deletions 62 familial clustering 62 aneuploidies 62 genetic polymorphism 62 imprinted genes 62 VHL gene 62 pathogenic mutations 62 polyploidy 62 PTPN# 62 mitochondrial dysfunction 62 epigenetically 62 intron 62 non coding RNA 62 piRNAs 62 meiotic recombination 62 epigenetic alterations 62 splice variants 62 CHD7 62 autosomal 62 allelic 62 phylogenetically 61 untranslated regions 61 polygenic 61 orthologs 61 genomic alterations 61 linkage disequilibrium 61 splice junctions 61 chromosomal 61 eukaryotic cells 61 globin genes 61 genome rearrangements 61 deacetylation 61 alleles 61 CNVs 61 DNA rearrangements 61 mtDNA mutations 61 inherited mutations 61 chromosome #q# [001] 61 phenotypically 61 clefting 61 maternally inherited 61 subcellular compartments 61 microRNA molecules 61 haplotypes 61 telomere dysfunction 61 ependymomas 61 allele frequencies 61 genomic imprinting 61 proto oncogene 61 transposable elements 61 centrosome 61 CYP#D# gene 61 cellular prion protein 61 mammalian genomes 61 FMR1 61 chromosome deletion 61 chromatin structure 60 Genetic variants 60 causal variants 60 familial ALS 60 missense mutation 60 phosphatases 60 SLITRK1 60 mRNA expression 60 monozygotic twins 60 transgene expression 60 TSC1 60 deleterious mutations 60 posttranslational modifications 60 noncoding 60 genomic deletions 60 RNA viruses 60 Foxp3 60 H#K#me# 60 nucleoli 60 HOTAIR 60 nonhereditary 60 chromosome #q#.# [001] 60 #q# [002] 60 ncRNAs 60 BRCA1 BRCA2 60 cis regulatory 60 telomeric 60 coevolution 60 Hsp# [001] 60 histone modification 60 chromosomal anomalies 60 substrate specificity 60 conserved sequences 60 MLL2 60 virulence genes 60 orthologous 60 miRNAs 60 loci 60 VNTR 60 molecular abnormalities 60 evolutionarily conserved 60 IKZF1 60 segmental duplication 60 mammary stem cells 60 MAPK pathway 60 penetrance 60 intronic 60 chromosome aberrations 60 isoforms 60 transcriptomes 60 ERK2 60 CNTNAP2 60 operons 60 differential gene expression 60 COL#A# 60 MYH9 60 progranulin gene 60 phenotypic expression 60 3'UTR 60 QTLs 60 heterozygosity 60 Smad3 60 A. thaliana 60 NF1 gene 59 karyotype 59 aneuploidy 59 nucleosome positioning 59 primate genomes 59 pRb 59 chimp genomes 59 protein conformation 59 heterozygotes 59 LRP5 59 structural rearrangements 59 gene expression patterns 59 chimpanzee genomes 59 RNA sequences 59 APOL1 59 #q#.# [001] 59 heterochromatin 59 genetic abnormalities 59 nucleotide sequence 59 proteolysis 59 LRRK2 gene 59 STAT4 59 seminomas 59 genetic recombination 59 DNA demethylation 59 SRY gene 59 PrPSc 59 E#F# 59 osteosarcomas 59 cell adhesion molecules 59 chromosome #q# [002] 59 alternatively spliced 59 mutation 59 TP# gene 59 chromosome rearrangements 59 V#F mutation 59 developmental abnormalities 59 chromosome #p#.# 59 enterotypes 59 SMAD4 59 gene mutations 59 CpG DNA 59 LPA gene 59 PTEN gene 59 nucleotide substitution 59 genotoxic stress 59 inbred strains 59 mRNA transcripts 59 hypomethylation 59 malignant transformation 59 autoinflammatory diseases 59 orthologous genes 59 ABCB1 59 epigenetic mechanisms 59 KLF4 59 bacterial genomes 59 clonally 59 BRAF gene 59 mRNA molecules 59 #p#.# [002] 59 Genetic mutations 59 centromeres 59 ribosomal proteins 59 herpesviruses 59 CD1d 59 DNA methylation 59 ubiquitylation 59 aneuploid cells 59 DISC1 59 BARD1 59 chromosomal DNA 59 coding genes 58 ribosomal RNA 58 signaling cascades 58 heritable variation 58 medulloblastomas 58 RNA polymerases 58 PALB2 58 endogenous retroviruses 58 Prox1 58 polymorphisms 58 HGPS 58 CNTNAP2 gene 58 pseudogenes 58 rRNA 58 FGFR2 58 CRISPR Cas 58 KIAA# 58 intergenic regions 58 phenotype 58 heterozygous 58 gastric carcinoma 58 methylation 58 Dpp 58 Thyroid nodules 58 RUNX3 58 neoplastic 58 ALK gene 58 Rap1 58 aneuploid 58 TAp# 58 histone acetylation 58 Telomere shortening 58 PIK3CA 58 paraganglioma 58 CGG repeats 58 cytochrome b 58 Wnt signaling 58 M. pneumoniae 58 constitutively 58 HSF1 58 WDR# 58 exons 58 alternative splicing 58 phylogenetic analyzes 58 presenilin 58 normal prion protein 58 multigenic 58 epigenetic regulation 58 #S rRNA 58 X chromosome inactivation 58 chromosome #q#.# [002] 58 susceptibility genes 58 FGF signaling 58 c Myb 58 proline rich 58 genes encoding 58 breast cancer genes BRCA1 58 morphological abnormalities 58 coding sequences 58 tRNA synthetases 58 phylogenies 58 polyglutamine 58 rs# [004] 58 JAK2 enzyme 58 neurite outgrowth 58 neuronal dysfunction 58 genes encode proteins 58 glycosylation 58 Htt 58 osteoblastic 58 germline 58 retrotransposon 58 DLC1 58 C. neoformans 58 mitochondrial mutations 58 genes predisposing 58 FGFs 58 mutant huntingtin protein 58 acetylation 58 evolutionary divergence 58 PrP 58 mutated genes 58 genetic syndromes 58 lincRNA 58 rDNA 58 Cyclin D1 58 CpG island 58 familial pancreatic cancer 58 recombination 58 FXTAS 58 vertebrate embryos 58 genomic variants 58 MiRNAs 58 HbF 58 K ras mutations 58 beta globin gene 58 coexpression 58 causative mutations 58 dopamine D4 receptor 58 phenotypes 58 quantitative trait loci 58 neurexins 58 teratoma 58 shortened telomeres 58 germline mutation 58 D. melanogaster 58 SHANK3 58 amyloid deposits 58 PrPC 58 synaptogenesis 58 PTEN protein 58 stochastically 58 NR#A# gene 58 ZNF# 58 metazoans 58 autosomal recessive 58 non coding RNAs 58 BDNF gene 58 introns 57 neural crest 57 caveolin 57 phenotypic traits 57 OCA2 57 HMGA2 57 tRNA synthetase 57 C#Y 57 acinar 57 RNA transcripts 57 matriptase 57 Drosophila genome 57 epigenetic inheritance 57 lung adenocarcinomas 57 Genetic predisposition 57 GPC5 57 cypin 57 heterochromatic 57 eukaryote 57 codons 57 Foxp2 57 p# activation 57 MAPCs 57 tau protein 57 Dysregulation 57 Transcription factors 57 APOE e4 57 Clusterin 57 LKB1 57 tau proteins 57 genetic mutations 57 animal phyla 57 mutant proteins 57 mechanistically 57 Chromosomal 57 Cathepsin B 57 tyrosine phosphorylation 57 number variants CNVs 57 Pancreatic neuroendocrine tumors 57 glycolipids 57 allelic variants 57 methodological differences 57 myofibroblasts 57 CHEK2 57 Eukaryotes 57 bone marrow mesenchymal stem 57 tau aggregates 57 ataxias 57 ABCB1 gene 57 homologs 57 coding exons 57 #S rRNA genes 57 uPAR 57 mammary cancers 57 chromosome translocations 57 alpha synuclein gene 57 monophyletic 57 Peutz Jeghers syndrome 57 micro RNA 57 homologues 57 TP# mutations 57 APOC3 57 HLA molecules 57 functional polymorphism 57 beta amyloid peptides 57 caveolae 57 melanocyte 57 human chimp speciation 57 HAR1 57 haematopoietic 57 endonuclease 57 phenotypic variability 57 epigenetic 57 polyploid 57 progranulin 57 genomic loci 57 H2AX 57 mRNAs 57 susceptibility loci 57 hyperplastic 57 recessive mutation 57 conformational changes 57 genomic variation 57 cnidarians 57 protein phosphorylation 57 RNA ribonucleic acid 57 commensal bacteria 57 hypothalamic pituitary 57 neural crest cells 57 DUX4 gene 57 neuroblastomas 57 genes BRCA1 57 gene polymorphisms 57 #BP# 57 microglial activation 57 CYP#B# 57 histone code 57 PTEN mutations 57 endonucleases 57 endosymbiosis 57 neural progenitor 57 sexually dimorphic 57 ciliated 57 congenital disorders 57 generalized vitiligo 57 oncoproteins 57 TET2 57 breast carcinomas 57 KLF# 57 BMPR2 57 EGFR gene 57 dominantly inherited 57 RNAs 57 hypermethylated 57 cytochrome P#s 57 BCL#A 57 hyperinsulinemia 57 polymerases 57 chromosomal alterations 57 prion infection 57 budding yeast 57 subcellular localization 57 Hox gene 57 morphogens 57 folate metabolism 57 amyloid deposition 57 Fas ligand 57 TACI mutations 57 lysine residues 57 primary cilia 57 spindle fibers 57 tyrosine kinases 57 C1q 57 genetic makeups 57 bilaterians 57 retrotransposons 57 chromosomal abnormalities 57 mucinous 56 nongenetic 56 R#W [002] 56 organism genome 56 S. cerevisiae 56 MTHFR gene 56 AMACR 56 astrocytic 56 PARP inhibition 56 p#/CBP 56 MMP# 56 ALK mutations 56 glial tumors 56 Alleles 56 Cytogenetic 56 transgenic mice expressing 56 BRAF V#E 56 homodimer 56 HLA genes 56 mesotheliomas 56 lymphoid cells 56 H#Y 56 epithelia 56 Jhdm2a 56 meningiomas 56 amyloid fibrils 56 protein misfolding 56 adipocyte 56 perilipin 56 SNPs 56 activating mutations 56 genetic rearrangements 56 Cyclin E 56 homozygotes 56 CpG islands 56 insulin signaling pathway 56 dizygotic 56 APOE genotype 56 mRNA decay 56 alpha synuclein protein 56 circadian genes 56 osteochondromas 56 Skp2 56 multi celled organisms 56 APOE ε4 56 neural crest stem cells 56 atypical hyperplasia 56 intracytoplasmic 56 prion proteins 56 previously uncharacterized 56 methylated DNA 56 fascin 56 hypoperfusion 56 cDNAs 56 promoter hypermethylation 56 thioredoxin 56 MDR1 56 polyploids 56 protein encoded 56 lymphoid 56 MMP9 56 K ras gene 56 5 HTTLPR 56 monogenic disorders 56 Amino acid 56 transmembrane 56 IGF1 56 malignant phenotype 56 PKD1 56 morphologies 56 NKX#.# 56 neuropsychiatric diseases 56 SGK1 56 hyperactivation 56 adenocarcinomas 56 single nucleotide polymorphism 56 neoplastic transformation 56 DNA sequences 56 gene expression 56 transcriptional regulation 56 amino acid sequences 56 Genetic variation 56 inherited genetic mutations 56 huntingtin 56 biogenesis 56 GNAQ 56 conformational 56 SOCS3 56 paternally inherited 56 centrosomes 56 SORL1 56 MAPKs 56 NFKBIA 56 neuronal stem cells 56 pleiotropy 56 brain lesions 56 malignant prostate 56 receptor signaling 56 fig. S4 56 autosomal dominant disorder 56 H#K# [002] 56 atherosclerotic lesions 56 nitrotyrosine 56 cysteine residues 56 protein kinases 56 chromosome abnormalities 56 GISTs 56 gene APOE 56 6S RNA 56 enzymatic activity 56 situs inversus 56 haplogroups 56 mitochondrial DNA mtDNA 56 trypanosome 56 apoE4 56 #S rRNA gene 56 prion gene 56 granulosa cell 56 uncharacterized 56 outer membrane proteins 56 RNA splicing 56 oncogenic transformation 56 yeast genome 56 microsatellite instability 56 eukaryotic genomes 56 antigenic shift 56 misregulation 56 microchimerism 56 miR# 56 histone methylation 56 FASPS 56 dinucleotide 56 senescent cells 56 gene amplification 56 ncRNA 56 colorectal carcinogenesis 56 thermodynamic stability 56 APOA5 56 clinicopathologic 56 lymphocyte activation 56 immunodominant 56 muscular dystrophies 56 Notch signaling 56 chromosomes 56 gene deletions 56 G allele 56 MALAT1 56 BMP signaling 56 evolutionary lineages 56 p# mutation 56 etiologic 56 CD#c 56 cytosine methylation 56 oxidized phospholipids 56 Li Fraumeni syndrome 56 proteolytic cleavage 56 transmembrane domains 56 isoform 56 differentially expressed genes 56 miR #a [001] 56 interconversion 56 polycomb 56 extra centrosomes 56 HLA B# 56 CD# expression [001] 56 #q# deletion 56 genomic rearrangement 56 apoE 56 assortative mating 56 TCF#L# 56 misfolding 56 fluoroquinolone resistance 56 oncogenic proteins 56 IL#R 56 autosomal dominant inheritance 56 Rho GTPases 56 miRs 56 telomere DNA 56 Apc 56 constitutively expressed 56 klotho 56 renal fibrosis 56 superinfection 56 bimodal distribution 56 MDM2 56 SOD1 56 crystallin 56 TMEM#B 56 SLC#A# [002] 56 epigenomes 56 overexpression 56 splice variant 56 microRNAs 56 osteoclast 56 prokaryote 56 genes 56 FOXP2 56 ultraconserved elements 56 oncogene addiction 56 transcriptional repressor 56 MGUS 56 UTRs 56 CHI#L# 56 methyltransferases 56 Rh incompatibility 56 paxillin 56 transcriptional activation 56 constitutively active 56 costimulatory 56 binding affinities 56 Activating mutations 56 Mechanistic studies 56 oncogenes 56 ribonucleic acid RNA 56 ORMDL3 56 Leydig cell 56 FMR1 gene 56 DNMT1 56 Leydig cells 56 drug metabolizing enzymes 56 TMPRSS2 ERG fusion 56 Hedgehog signaling 56 BRAF protein 56 p# MAPK 55 #q#.# deletion syndrome 55 genital tract infections 55 proteomes 55 mitochondrial enzyme 55 bivariate 55 CALHM1 55 distinct subtypes 55 genomically 55 monozygotic 55 evolvability 55 airway hyperresponsiveness 55 Genetic variations 55 supratentorial 55 p#INK#a 55 glycoproteins 55 myeloproliferative 55 mitochondrial metabolism 55 GRP# 55 tropomyosin 55 causative genes 55 tetramers 55 cutaneous lesions 55 homologous recombination 55 transcriptionally 55 #p# [003] 55 IGF2 55 gliosis 55 subclinical 55 MC4R 55 eukaryotic organisms 55 leukaemias 55 D#N 55 genetic alteration 55 apoptosis pathway 55 P cadherin 55 Hashimoto thyroiditis 55 overactivation 55 beta1 integrin 55 KCNQ1 55 Telomere length 55 oncogenic 55 KRAS oncogene 55 genotypic 55 FMRP protein 55 JAK mutations 55 familial aggregation 55 S. pombe 55 microarray experiments 55 HNPCC 55 myopathies 55 dizygotic twins 55 microglial 55 GBM tumors 55 tumor suppressor genes 55 dopamine signaling 55 trimeric 55 metaplasia 55 DNA hypomethylation 55 clades 55 selfing 55 genetic polymorphisms 55 DICER1 55 nucleases 55 FUS1 55 paragangliomas 55 CpG 55 messenger RNAs mRNAs 55 MTHFR 55 tetramer 55 ADPKD 55 PON1 55 sphingolipid 55 proapoptotic 55 IgG4 55 infarcts 55 prothrombotic 55 blastomeres 55 Th1 Th2 55 Supplementary Fig 55 ORFs 55 amygdalae 55 tumoral 55 epigenetic markers 55 variant allele 55 Nup# 55 pleiotropic effects 55 CEACAM1 55 electrophysiological properties 55 activin 55 phylogenetic trees 55 Fig. 1D 55 XBP1 55 ribosomal DNA 55 ectoderm 55 LMNA 55 pseudogene 55 tumor suppressors 55 nucleotide 55 ploidy 55 inhomogeneities 55 CYP#C# [002] 55 number variations CNVs 55 mitochondrial genome 55 noncoding RNA 55 G6PD 55 chromatids 55 euchromatin 55 titin 55 OGG1 55 LVNC 55 histopathologic 55 gene loci 55 autosomes 55 MAOA gene 55 #p# [001] 55 FGFR3 55 mtDNA 55 MAP kinases 55 S. sanguinis 55 Phenotypic 55 Fig. 3a 55 chronicity 55 osteoclast activity 55 meiotic 55 uncharacterized genes 55 GIST tumors 55 c MYC 55 insulin signaling pathways 55 infantile hemangioma 55 E3 ligase 55 SCN5A 55 cathepsin B 55 ciliopathies 55 Pten 55 CDH1 55 histologically 55 Rb#/p# 55 INF2 55 TRAIL induced apoptosis 55 cell nuclei 55 ADAM# 55 molecular pathways 55 histocompatibility 55 FGFR2 gene 55 N Myc 55 SLC#A# [001] 55 CCR5 delta# 55 myeloproliferative diseases 55 amino acid residues 55 condensin 55 single celled yeast 55 serine threonine kinase 55 miRNA molecules 55 extracellular domains 55 protein tyrosine phosphatases 55 Progenitor cells 55 IRF6 55 TMPRSS2 ERG 55 ependymal cells 55 NFkB 55 amyloids 55 genetic variation 55 amyloid cascade 55 Sonic Hedgehog 55 NFTs 55 motor neuron degeneration 55 transgenic mouse models 55 tRNA genes 55 vimentin 55 tumor suppressor protein 55 TGF β 55 glucose abnormalities 55 misfolded protein 55 biochemical abnormalities 55 Borrelia 55 micronuclei 55 KRAS mutations 55 haplotype 55 unicellular organisms 55 ovarian hormones 55 allele frequency 55 GLI1 55 cybrid 55 chromatid 55 FLT3 55 chromatin remodeling 55 herpes viruses 55 intracellular signaling 55 hepatocellular carcinomas 55 mammographic density 55 podocyte 55 IgA deficiency 55 papillomas 55 bile acid metabolism 55 cohesin 55 polynucleotides 55 protein alpha synuclein 55 HLA alleles 55 quasispecies 55 gut microbiota 55 CYP#C# gene 55 Angelman syndrome 55 BRCA1 gene 55 chordate 55 E cadherin 55 genetic relatedness 55 isotypes 55 intracellular signal transduction 55 fibrillin 1 55 Sp1 55 homodimers 55 Rickettsia 55 cardiac fibroblasts 55 mitochondrial disorders 55 MYH# 55 normal karyotype 55 metalloprotease 55 chordates 55 tumor suppressor gene 55 epistatic 55 axon guidance 55 HFE gene 55 DISC1 gene 55 SOD1 protein 55 tumor suppressor p# 55 BRCA1 mutations 55 XMRV infection 55 dedifferentiation 55 transfected cells 55 white matter hyperintensities 55 MT1 MMP 55 gene locus 55 Aß 55 Chromosomes 55 morphologically 55 Th2 55 isotype 55 miR #a [002] 55 abnormal prion protein 55 tau gene 55 ribosomal protein 55 chromosomal imbalance 55 gene fusions 55 WAGR syndrome 55 DEAR1 55 immunoreactivity 55 PAK1 55 chromosome #q