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Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 6, pp. 1914 - 1922
Allergy and Immunology | TNFAIP3 (A20) | Autoimmune lymphoproliferative syndrome | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Humans | Cells, Cultured | NF-kappa B - immunology | Infant | Male | Haploinsufficiency | Tumor Necrosis Factor alpha-Induced Protein 3 - genetics | Phenotype | Autoimmune Lymphoproliferative Syndrome - genetics | Leukocytes, Mononuclear - immunology | Autoimmune Lymphoproliferative Syndrome - immunology | Germ-Line Mutation | Tumor Necrosis Factor alpha-Induced Protein 3 - immunology | Gene mutations | Developmental biology | Analysis | Genomics | Genetic research | Genetic aspects | Information management | Children | Health aspects | Diseases | Pediatrics | Fas antigen | Disease | Transcription | Genes | Science | Frameshift mutation | Genomes | Kinases | Gene sequencing | Proteins | Signal transduction | Alterations | Functional anatomy | Databases | Pathways | Lymphocytes | Immunoglobulins | Patients | Tumor necrosis factor | Mutation | Autoimmune diseases | Apoptosis | Index Medicus | Abridged Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 08/2013, Volume 45, Issue 8, pp. 860 - 867
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cell Line | Kidney Neoplasms - genetics | Signal Transduction | Genomics | Humans | Gene Expression Regulation, Neoplastic | Carcinoma, Renal Cell - genetics | Gene Expression Profiling | Kidney Neoplasms - metabolism | Transcription Factors - genetics | Kidney Neoplasms - mortality | Hypoxia-Inducible Factor 1 - metabolism | DNA Copy Number Variations | Elongin | Exome | Transcription Factors - metabolism | Carcinoma, Renal Cell - metabolism | Carcinoma, Renal Cell - mortality | DNA Methylation | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Cluster Analysis | Gene mutations | Physiological aspects | Genetic aspects | Research | Carcinoma, Renal cell | Methylation | Gene expression | Risk factors | Pathogenesis | DNA methylation | Epigenetics | Genomes | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 5, pp. 458 - 468
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Glioma - mortality | Genetic Association Studies | Gene Frequency | Humans | Kaplan-Meier Estimate | Brain Neoplasms - genetics | DNA Copy Number Variations | Glioma - genetics | Neoplasm Grading | High-Throughput Nucleotide Sequencing | Brain Neoplasms - mortality | Mutation | Development and progression | Genetic aspects | Gene mutations | Gliomas | Identification and classification | Health aspects | Studies | Architecture | Pathogenesis | Brain cancer | Medical prognosis | Mortality | Genomes | Histology | Tumors | Cancer | Index Medicus
Journal Article
Nature (London), ISSN 0028-0836, 05/2016, Volume 534, Issue 7607, pp. 402 - 406
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Up-Regulation | Clonal Selection, Antigen-Mediated | Tumor Escape - genetics | Humans | Gene Expression Regulation, Neoplastic | 3' Untranslated Regions - genetics | Programmed Cell Death 1 Receptor - antagonists & inhibitors | RNA, Messenger - metabolism | Neoplasms - genetics | Programmed Cell Death 1 Receptor - biosynthesis | Female | Adenocarcinoma - genetics | Stomach Neoplasms - genetics | Antibodies - therapeutic use | Leukemia-Lymphoma, Adult T-Cell - genetics | RNA, Messenger - genetics | RNA Stability | Antibodies - pharmacology | Animals | Genetic Markers - genetics | CRISPR-Cas Systems | Cell Line, Tumor | Mice | Neoplasms - pathology | Lymphoma, Large B-Cell, Diffuse - genetics | Programmed Cell Death 1 Receptor - genetics | Molecular targeted therapy | Care and treatment | Genetic variation | Ligands (Biochemistry) | Innovations | Genetic aspects | Gene expression | Properties | Health aspects | Cancer | Proteins | Genes | Immunotherapy | Cytotoxicity | Ligands | Genomes | Lymphoma | Apoptosis | Index Medicus
Journal Article
Nature (London), ISSN 0028-0836, 01/2019, Volume 565, Issue 7739, pp. 312 - 317
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Life Style | Cell Count | Humans | Middle Aged | Child, Preschool | Infant | Male | Gene-Environment Interaction | DNA Copy Number Variations | Esophageal Neoplasms - pathology | Young Adult | Aging - genetics | Cell Transformation, Neoplastic - genetics | Aged, 80 and over | Adult | Female | Single-Cell Analysis | Child | Mutation Accumulation | Epithelium - pathology | Epithelium - metabolism | Risk Factors | Smoking - genetics | Clone Cells - metabolism | Precancerous Conditions - genetics | Sequence Analysis, DNA | Alcohol Drinking - genetics | Genome, Human - genetics | Aging - pathology | Clone Cells - pathology | Esophageal Neoplasms - genetics | Biopsy | Adolescent | Aged | Mutation | Protein Phosphatase 2C - genetics | Receptor, Notch1 - genetics | Evolution, Molecular | Risk factors (Health) | Gene mutations | Demographic aspects | Analysis | Epithelial tumors | Development and progression | Models | Esophageal cancer | Automobile drivers | Medical colleges | Squamous cell carcinoma | Genetic aspects | Comparative analysis | Health aspects | Risk factors | Sample size | Genomics | Alcohol | Genomes | Remodeling | Older people | Dependence | Aging | Tumorigenesis | Chronology | Children | Adolescents | Signatures | Expansion | Age | Drinking behavior | Cloning | Health risks | Epithelium | Esophagus | Alcoholic beverages | Lifestyles | Cancer | Smoking | Geriatrics | Polymorphism | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 171 - 175
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | NIH 3T3 Cells | Immunoblastic Lymphadenopathy - genetics | Jurkat Cells | Humans | Lymphoma, T-Cell, Peripheral - genetics | Molecular Sequence Data | Bromodeoxyuridine | Isocitrate Dehydrogenase - genetics | Proto-Oncogene Proteins - genetics | rhoA GTP-Binding Protein - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Mutation, Missense - genetics | DNA (Cytosine-5-)-Methyltransferases - genetics | Exome - genetics | Animals | Base Sequence | Lymphoma, T-Cell, Peripheral - pathology | Mice | Genetic aspects | Non-Hodgkin's lymphomas | Research | Gene mutations | Health aspects | Risk factors | Medical research | Lymphocytes | Genomes | Mutation | Gene expression | Lymphoma | Tumors | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 2, pp. 204 - 212
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome - genetics | Humans | Myelodysplastic Syndromes - genetics | Clonal Evolution - genetics | Mutation - genetics | Clone Cells - metabolism | Disease Progression | Leukemia, Myeloid, Acute - genetics | Care and treatment | Gene mutations | Development and progression | Genetic aspects | Gene expression | Health aspects | Myelodysplastic syndromes | Data analysis | Research & development--R&D | Cloning | Science | Genomes | Mutation | Grants | Tumors | Cancer | Index Medicus
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Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
Genetics in medicine, ISSN 1098-3600, 07/2017, Volume 19, Issue 7, pp. 796 - 802
nextgeneration sequencing | target sequencing | Fanconi anemia | inherited bone marrow failure | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Bone Marrow Diseases - diagnosis | High-Throughput Nucleotide Sequencing - utilization | Genetic Testing | Hemoglobinuria, Paroxysmal - genetics | Humans | Male | Mutation - genetics | Whole Exome Sequencing - methods | Bone Marrow Diseases - genetics | Anemia, Aplastic - diagnosis | Exome - genetics | Female | Hemoglobinuria, Paroxysmal - diagnosis | High-Throughput Nucleotide Sequencing - methods | Sequence Analysis, DNA - methods | Anemia, Aplastic - genetics | Bone marrow | Index Medicus
Journal Article