Related by context. All words. (Click for frequent words.) 70 #q#.# [002] 69 microdeletions 68 microdeletion 67 de novo mutations 67 somatic mutations 67 #p#.# [001] 66 gene deletions 66 genomic deletions 65 monogenic 65 mosaicism 65 chromosomal rearrangement 65 CHD7 64 segmental duplications 64 missense mutations 64 inherited mutations 64 somatic mutation 64 DNA rearrangements 64 PTPN# 64 monozygotic twins 64 splice junctions 64 germline mutations 64 LRRK2 gene 64 paralogs 64 insertions deletions 64 genetic loci 64 PTEN gene 64 mitochondrial gene 64 #q#.# [001] 64 gene rearrangements 64 KRAS oncogene 63 Alu elements 63 indel 63 chromosome #q#.# [001] 63 chromosomal rearrangements 63 neoplastic 63 uniparental 63 orthologs 63 chromosomal translocations 63 Alleles 63 nonhereditary 63 normal karyotype 63 neuroligins 63 spontaneous mutations 63 VHL gene 63 NF1 gene 63 chromosome rearrangements 63 CDH1 63 MSH2 63 chromosomal aberrations 62 CYP#D# gene 62 metaplasia 62 DNA methylation patterns 62 ABCB1 62 chromosomal alterations 62 clefting 62 mutant alleles 62 modifier genes 62 NFKBIA 62 chromosome #q# [001] 62 karyotype 62 intergenic regions 62 indels 62 gene duplications 62 SOD1 gene 62 phenotypic variation 62 imprinted genes 62 hyperplastic 62 non coding RNA 62 chromosomal anomalies 62 recessive trait 62 MLL2 62 ALK gene 62 TP# mutation 62 dominantly inherited 62 #p#.# [002] 62 coding genes 62 MLH1 62 miRNA expression 62 p# mutations 62 ataxias 62 TMPRSS2 ERG fusion 62 HFE gene 61 allelic 61 coding exons 61 WAGR syndrome 61 spontaneous mutation 61 beta globin gene 61 FMR1 61 mutated K ras 61 BDNF gene 61 SHANK3 61 chromosome #p#.# 61 hypermethylated 61 beta1 integrin 61 epigenetic modifications 61 aneuploidies 61 FXTAS 61 COL#A# 61 homozygosity 61 CGG repeats 61 epigenetic alterations 61 sporadic ALS 61 ABCB1 gene 61 phenotypic expression 61 5q 61 aneuploid 61 MC4R gene 61 LIS1 61 intergenic 61 penetrance 61 epigenetic modification 61 genes predisposing 61 translocations 61 virulence genes 61 autosomal recessive 61 biochemical abnormalities 61 chromosomal instability 61 methylation patterns 60 SCN1A 60 sequence homology 60 autosomal dominant inheritance 60 Neurofibromatosis type 60 neuronal dysfunction 60 number variations CNVs 60 epigenetic changes 60 genomic variation 60 pathogenic mutations 60 myopathies 60 pleiotropic effects 60 neurofibromas 60 budding yeast 60 neuritic 60 APOE e4 60 causative genes 60 neurofibrillary 60 Chromosomal 60 telomeric 60 missense 60 fungal genomes 60 polyploid 60 inbred strains 60 monozygotic twin 60 cis regulatory 60 intronic 60 allele frequencies 60 FMR1 gene 60 globin genes 60 heterozygotes 60 Vangl2 60 maternally inherited 60 SCA1 60 heterozygosity 60 Li Fraumeni syndrome 60 differential gene expression 60 cisplatin resistant 60 epigenetic markers 60 allelic variants 60 nonvascular 60 beta globin 60 UGT#B# 60 noncoding RNAs 60 ß amyloid 60 SMN2 gene 60 K ras mutations 60 holoprosencephaly 60 homologies 60 ploidy 60 Genetic mutations 60 genetic syndromes 60 orthologous 60 hamartomas 60 CYP#C# [002] 60 synovial cells 60 #q# deletion 60 genomic rearrangements 59 ERK2 59 synaptogenesis 59 polyploidy 59 FGFR2 gene 59 nucleotide sequences 59 MTHFR 59 TCF#L# gene 59 BRCA1 BRCA2 59 Genetic variants 59 TGFBR1 59 microsatellite instability 59 genotoxic stress 59 autosomal dominant disorder 59 deleterious mutations 59 leptin deficiency 59 karyotypes 59 MYH9 gene 59 methyltransferase 59 chromosome #q#.# [002] 59 nucleoli 59 LRAT 59 OGG1 59 epigenetic silencing 59 autosomal 59 CFTR gene 59 triplet repeats 59 TSC1 59 APOL1 59 nongenetic 59 thyroid carcinoma 59 IgA deficiency 59 chromatin structure 59 chromosome #q# [002] 59 quantitative trait loci 59 mtDNA mutations 59 HLA DQ2 59 noncoding 59 MGUS 59 alleles 59 p# activation 59 colocalization 59 lung adenocarcinomas 59 FUS1 59 androgen receptor gene 59 filaggrin 59 circadian genes 59 SLC#A# [002] 59 CHEK2 59 PTEN mutations 59 aneuploidy 59 generalized vitiligo 59 prokaryote 59 glial tumors 59 C#Y 59 dopamine transporter gene 59 glutamic acid decarboxylase 59 IKZF1 59 unmethylated 59 Amino acid 59 epigenetic regulation 59 progranulin gene 59 genomewide 59 WDR# 59 MECP2 gene 59 immunodeficiencies 59 GPC5 59 epithelial tissues 59 chromosome translocations 59 chromosome #q 59 genes CYP#C# 59 developmental abnormalities 59 TP# mutations 59 morphologic 59 VNTR 59 TMEM#B 59 NR#A# 59 Trichophyton rubrum 59 leiomyoma 59 piRNAs 59 histone H4 58 Brugada syndrome 58 chromatin proteins 58 PALB2 gene 58 dysbindin 58 mitochondrial proteins 58 monoclonal gammopathy 58 #S rRNA 58 autosomal dominant 58 herpesviruses 58 Smad3 58 radial glia 58 fig. S4 58 gene polymorphisms 58 MMP# 58 molecular abnormalities 58 Germline 58 #q# [001] 58 replicase 58 hypothalamic pituitary 58 chromosome #p# [002] 58 evolutionarily conserved 58 anterior temporal 58 amyloid deposition 58 mutations 58 splice variants 58 GLUT1 58 #q#.# deletion syndrome 58 DLC1 58 etiologic 58 Hurthle cell 58 congenital disorders 58 NEIL1 58 bacterial genomes 58 susceptibility genes 58 SNPs pronounced snips 58 coagulopathy 58 G6PD deficiency 58 LKB1 58 calculi 58 IGF2 58 S. pombe 58 genetic alterations 58 inactivating mutations 58 microRNA molecules 58 apoE4 58 rDNA 58 MYH9 58 cysteines 58 cytosine methylation 58 A. thaliana 58 immunoreactive 58 C1q 58 aneuploid cells 58 genetic polymorphism 58 #p# [001] 58 mammary stem cells 58 lymphocytic 58 phenotype 58 TACI mutations 58 metazoan 58 IRS1 58 frameshift mutation 58 TOP2A gene 58 Leydig cell 58 familial aggregation 58 alternatively spliced 58 myeloproliferative 58 substrate specificity 58 SMAD4 58 p# mutation 58 Hutchinson Gilford progeria 58 Xenopus embryos 58 missense mutation 58 primate genomes 58 SLC#A# gene [001] 58 neurofibromatosis type 58 granulosa cell 58 HLA molecules 58 paternally inherited 58 Genetic variation 58 neural crest 58 untranslated regions 58 HbF 58 severe congenital neutropenia 58 LDL receptor 58 phenotypes 58 PALB2 58 JAK2 gene 58 gastric carcinoma 58 genomic alterations 58 Meckel Gruber 58 chromosomal regions 58 BARD1 58 MLL gene 58 proximal colon 58 UGT#A# * 58 MC1R 58 oncogenic mutations 58 #p# [003] 58 constitutively expressed 58 genetic makeups 58 FGFR2 58 hepatocellular carcinomas 58 mitochondrial dysfunction 58 peroxisome 58 paraneoplastic 58 lung adenocarcinoma 58 ependymomas 58 Heritability 58 polyglutamine diseases 58 klotho 58 TP# gene 58 connexin 58 Kabuki syndrome 58 multigenic 58 human leukocyte antigens 58 endophenotypes 58 familial pancreatic cancer 58 tyrosine phosphorylation 58 organism genome 58 MEF2A 58 genomic imprinting 58 dissociative disorders 58 Arabidopsis genome 58 DICER1 gene 58 haematologic 57 clonally 57 familial ALS 57 orthologous genes 57 sonographic appearance 57 genetic locus 57 heterozygosity LOH 57 NPM1 gene 57 Beckwith Wiedemann syndrome 57 RNA polymerases 57 Drosophila genome 57 atypical hyperplasia 57 KCNH2 57 unmutated 57 genomic variants 57 motor neuron degeneration 57 myoepithelial 57 Genetic predisposition 57 p tau 57 metabolic abnormalities 57 cellular prion protein 57 CNVs 57 phenotypic variability 57 Prion diseases 57 immunodominant 57 anterior pituitary 57 bronchoalveolar 57 sarcomatoid 57 egg follicles 57 pancreatic endocrine 57 transgene expression 57 causative mutations 57 FGF signaling 57 hypomethylation 57 MeCP2 gene 57 desmosomes 57 alternative splicing 57 segmental duplication 57 mutated protein 57 hypercoagulable 57 genomic instability 57 dyskeratosis congenita 57 ARID1A 57 haematopoietic 57 FGFs 57 ribosomal proteins 57 variant allele 57 activating mutation 57 hippocampal function 57 susceptibility loci 57 periventricular 57 histone modification 57 multiprotein complex 57 observable traits 57 pseudogenes 57 SLC#A# [001] 57 transgenic mice expressing 57 cytogenetic abnormalities 57 Mendelian 57 underlying pathophysiology 57 polyglutamine 57 mammary cancers 57 rRNA 57 peroxisomal 57 predisposing factor 57 transcriptional repression 57 trypanosome 57 globin 57 apoptosis pathway 57 Hox gene 57 Mitochondrial 57 homologues 57 ribosomal DNA 57 paraganglioma 57 #S rDNA 57 homocystinuria 57 basal cell nevus syndrome 57 functional polymorphism 57 syndromes 57 Klinefelter syndrome 57 apolipoprotein E gene 57 MTHFR gene 57 proline rich 57 tRNA synthetases 57 Rh factor 57 H#K#me# 57 Foxp2 57 embryonic tissues 57 BRAF gene 57 pre malignant lesions 57 pRb 57 phylogenetically 57 pituitary adenomas 57 HGPS 57 microglial 57 uncharacterized 57 DSBs 57 GABAergic interneurons 57 heterologous expression 57 X. laevis 57 CYP#B# 57 brain lesions 57 nerve degeneration 57 extracolonic 57 chromosomal mutations 57 JAK2 enzyme 57 osteoblastic 57 ERK signaling 57 posttranslational modifications 57 renal cysts 57 PON1 57 punctate 57 frontotemporal 57 protein conformation 57 amyloid deposits 57 striated muscle 57 Pol IV 57 Nup# 57 pheochromocytomas 57 recessive genetic 57 G#S [002] 57 familial adenomatous polyposis 57 gene amplification 57 Fig. 1E 57 ciliated 57 congenital anomalies 57 GIST tumors 57 homozygotes 57 prostate carcinoma 57 cypin 57 nucleotide substitutions 57 coexpression 57 Activating mutations 57 anatomical abnormalities 57 monozygotic 57 Dpp 57 intracytoplasmic 57 antiphospholipid syndrome 57 familial clustering 57 chromosomal abnormalities 57 galactosemia 57 cutaneous lesions 57 HLA B# 57 chromosome abnormalities 57 PARP inhibition 57 Entamoeba 57 Prox1 57 CNTNAP2 57 Skeletal muscle 57 electrophysiologic 57 homozygote 57 transgenic mouse models 57 mutated genes 57 ortholog 57 histone methylation 57 sCJD 57 hypoperfusion 57 schwannomas 57 Cowden syndrome 57 rs# [004] 57 mutant proteins 57 genetic rearrangements 57 acinar 57 Cytogenetic 56 microRNA expression 56 haplotypes 56 GBA mutations 56 SLITRK1 56 ERBB2 56 CpG island 56 tRNA genes 56 Genetic variations 56 granule cells 56 susceptibility locus 56 mental retardation epilepsy 56 highly heritable 56 QTLs 56 systemic amyloidosis 56 #S rRNA gene 56 prion gene 56 Histologically 56 papillomas 56 familial adenomatous polyposis FAP 56 MDR1 56 intestinal epithelium 56 seminomas 56 breast cancer genes BRCA1 56 aCGH 56 protein isoforms 56 methylenetetrahydrofolate reductase 56 mitochondrial defects 56 estrogen receptor alpha 56 steroidogenic 56 guanine G 56 carcinoids 56 pathophysiologic 56 mitochondrial DNA mtDNA 56 paragangliomas 56 KIT mutations 56 breast cancer subtypes 56 histone modifications 56 FASPS 56 mitochondrial metabolism 56 synaptic proteins 56 hyper IgE syndrome 56 mRNA molecules 56 SMN1 56 nonsense mutations 56 Single nucleotide polymorphisms 56 inherited neurological disorder 56 apolipoprotein E APOE 56 nucleotide sequence 56 APOE ε4 56 LPA gene 56 hyperinsulinism 56 cybrid 56 radiographic findings 56 hematopoietic progenitors 56 microRNAs miRNAs 56 heritable 56 astrocytic 56 mitochondrial mutations 56 notochord 56 supratentorial 56 Chronic pancreatitis 56 cerebellar 56 ADAMTS# 56 von Hippel Lindau 56 osteosarcomas 56 EBNA1 56 ultrastructural 56 infarcts 56 Apert syndrome 56 mucinous 56 phenotypic differences 56 epidermal cells 56 situs inversus 56 K ras gene 56 chronicity 56 Peutz Jeghers syndrome 56 KCNQ1 56 homolog 56 neuroblastoma tumors 56 dysgenesis 56 mRNA transcripts 56 homologous chromosomes 56 hamartoma 56 vacuolar 56 Polymorphisms 56 enterotypes 56 OCA2 56 μ opioid receptor 56 epigenetic mechanisms 56 prodynorphin 56 PTEN protein 56 cortices 56 BCL#A 56 pluripotent embryonic 56 nitrotyrosine 56 EGFR gene 56 genetic determinants 56 DEAR1 56 amyloid peptides 56 neurofibroma 56 TOP2A 56 GATA4 56 periodontal tissues 56 senescent cells 56 mitochondrial genomes 56 vestibular schwannomas 56 chromosomal 56 STAT4 56 CDKN2A 56 meiotic recombination 56 pleiotropic 56 chromatid 56 genes encoding 56 germline cells 56 evolutionary lineages 56 eukaryotic organisms 56 pituitary tumors 56 ENPP1 56 forkhead 56 bioengineered mice 56 microcephalin 56 HOTAIR 56 gene locus 56 Hashimoto thyroiditis 56 germline 56 activating mutations 56 PCR amplified 56 progranulin 56 circulating endothelial cells 56 chemosensitivity 56 crystallin 56 overexpress 56 lymphoid cells 56 Wernicke Korsakoff syndrome 56 metabolic disturbances 56 pseudogene 56 polyploids 56 proteolysis 56 DQB1 * 56 MAP#K# 56 folate metabolism 56 hyperactivation 56 IL#R 56 S. cerevisiae 56 CYP #D# 56 ribosomal protein 56 NF1 56 viral genomes 56 centrosomes 56 serotonin transporters 56 antiphospholipid antibodies 56 heterochromatic 56 inherited maternally 56 transcriptional regulation 56 radiosensitive 56 GSTM1 56 monogenic disorders 56 histocompatibility 56 CYP#D# 56 KRAS mutations 56 Phenotypic 56 homologous genes 56 DICER1 56 GSTP1 56 APOE genotype 56 recessive mutation 56 Arabidopsis genes 56 secretory pathway 56 prefrontal cortical 56 tissue homeostasis 56 white matter hyperintensities 56 trophoblast cells 56 incidentalomas 56 beta amyloid peptides 56 causal variants 56 Clusterin 56 GISTs 56 fulminant hepatic failure 56 homologs 56 apoE 56 HER2 neu 56 CG methylation 56 ZNF# 56 hepatoma 56 MAPKs 56 eukaryote 56 subcellular localization 56 synthases 56 Htt 56 entorhinal cortex 56 cytochrome b 56 muscular dystrophies 56 MC1R gene 56 neuropathologic 56 malignant phenotype 56 VKORC1 56 Shp2 56 alpha synuclein protein 56 sister chromatid 56 gliosis 56 cAMP signaling 56 C#T [002] 56 Sjögren syndrome 56 RRM1 56 vertebrate embryos 56 autism susceptibility genes 56 lesional 56 Fibroblasts 56 genetic aberrations 56 hereditary spastic paraplegia 56 endogenous ligands 56 axon guidance 56 Fragile X gene 56 mRNAs 56 Li Fraumeni 56 antisense strand 56 HER2 overexpression 56 gastric carcinomas 56 transcriptional repressor 56 hepatic lipase 56 SNP rs# [001] 56 TYMS 55 posterior cingulate 55 tetramers 55 deuterostomes 55 histological subtype 55 ribonucleic acids 55 exocrine 55 MAPK pathway 55 single nucleotide polymorphism 55 VCFS 55 microvessels 55 behavioral abnormalities 55 cellularity 55 HLA DRB1 55 conserved sequences 55 genome rearrangements 55 genes encode proteins 55 CAG repeats 55 H#Y 55 nonidentical 55 osteochondromas 55 primary cilia 55 mutant genes 55 polydactylism 55 bilaterians 55 ultraconserved elements 55 NF2 55 ligand receptor 55 C. neoformans 55 allele frequency 55 3'UTR 55 RNA sequences 55 pancreatic tissue 55 polygenic 55 morphologically 55 transgenic rats 55 R#W [002] 55 tubule 55 Jhdm2a 55 ectopic expression 55 SORL1 55 protein coding RNAs 55 gene MECP2 55 M. pneumoniae 55 heterotaxy 55 γ secretase 55 misregulation 55 medulloblastomas 55 adenylate cyclase 55 epigenetic marks 55 cDNAs 55 abnormal chromosome 55 proteins misfold 55 gene loci 55 epistasis 55 tumorigenicity 55 carcinoid tumor 55 nucleolar 55 Dysregulation 55 CHD5 55 cell nuclei 55 fibroma 55 podocytes 55 neurological abnormalities 55 fronto temporal dementia 55 MMP9 55 CALHM1 55 telomere DNA 55 parkin gene 55 replicon 55 HNPCC 55 morphological traits 55 rs# [002] 55 melanocytic nevi 55 neuroblastomas 55 FMRP protein 55 granulocyte 55 phylogenies 55 linkage disequilibrium 55 totipotent 55 neural progenitor 55 gyri 55 transcriptomes 55 heritable variation 55 affective psychosis 55 ribonucleic acid molecules 55 HLA DRB1 * 55 CC genotype 55 PIK3CA 55 chordates 55 proto oncogene 55 ALK mutations 55 hypocretin neurons 55 ERK1 2 55 parahippocampal gyrus 55 CYP#A# gene 55 genetic abnormalities 55 rs# [003] 55 KRAS BRAF 55 Leukemias 55 neurofibromin 55 dystrophin gene 55 V#F mutation 55 chromosome deletion 55 trinucleotide 55 messenger RNAs mRNAs 55 drug metabolizing enzymes 55 Cyclin D1 55 coding RNA 55 homodimers 55 Pten 55 N myc 55 succinate dehydrogenase 55 epigenomes 55 mouse ESCs 55 meningiomas 55 insulin signaling pathway 55 doublecortin 55 chromosome condensation 55 Telomere length 55 XLHED 55 FLT3 55 blastomeres 55 promoter methylation 55 channelopathies 55 nephrogenic 55 causative gene 55 hippocampal 55 polyposis 55 #q# [002] 55 APOC3 55 transmembrane protein 55 cerebral cortical 55 CFH gene 55 Ets2 55 mRNA sequences 55 affective psychoses 55 neuropsychiatric diseases 55 KIAA# 55 FTLD 55 single celled yeast 55 recessive mutations 55 Prenatal diagnosis 55 miRNA genes 55 tryptase 55 SMN protein 55 normal prion proteins 55 D. melanogaster 55 leiomyomas 55 PrPC 55 polydactyly 55 BRIP1 55 polynucleotide 55 T. vaginalis 55 hypermethylation 55 chromatin immunoprecipitation ChIP 55 fibril 55 c KIT 55 primordial germ cells 55 RNA splicing 55 number variants CNVs 55 mechanotransduction 55 gamma H2AX 55 kilobases 55 micro RNAs 55 KLF4 55 lobular breast cancer 55 extramedullary 55 amino acid sequences 55 myogenic 55 GSTT1 55 clinically insignificant 55 microsatellite markers 55 myosins 55 TET2 55 genetic modifiers 55 hereditary nonpolyposis colorectal cancer 55 mammary cells 55 cystic fibrosis chronic pancreatitis 55 APOE4 55 synaptic function 55 thrombophilia 55 p#INK#a 55 autophagic 55 LRRK2 mutations 55 spontaneous regression 55 tumor biopsies 55 G6PD 55 neuroanatomical 55 diploid 55 tumor suppressor genes 55 SCN5A 55 CNTNAP2 gene 55 LMNA 55 synuclein 55 cellular organelles 55 suppressor gene 55 CRISPR 55 membrane proximal 55 RPE# 55 INF2 55 LRP5 55 retroviral vectors 55 abnormal proteins 55 apolipoprotein E4 55 5 methylcytosine 55 distantly related species 55 lipomas 55 isoenzymes 55 causative mutation 55 circadian clock genes 55 laterality 55 collagenous 55 Mendelian diseases 55 aniridia 55 LVNC 55 echogenic foci 55 enteroviral 55 thymine 55 prion strains 55 JAK mutations 55 CFTR gene mutations 55 evolvability 55 meiotic 55 cytosolic 55 SMN2 55 protein tyrosine phosphatase 55 gene APOE4 55 tropomyosin 55 abnormal chromosomes 55 lactate dehydrogenase 55 dinucleotide 55 GSTM1 gene 55 constitutively active