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1. Full Text Germline Mutations in HOXB13 and Prostate-Cancer Risk
by Ewing, Charles M and Ray, Anna M and Lange, Ethan M and Zuhlke, Kimberly A and Robbins, Christiane M and Tembe, Waibhav D and Wiley, Kathleen E and Isaacs, Sarah D and Isaacs, William B and Johng, Dorhyun and Wang, Yunfei and Bizon, Chris and Yan, Guifang and Gielzak, Marta and Partin, Alan W and Shanmugam, Vijayalakshmi and Izatt, Tyler and Sinari, Shripad and Craig, David W and Zheng, S. Lilly and Walsh, Patrick C and Montie, James E and Xu, Jianfeng and Carpten, John D and Cooney, Kathleen A
The New England journal of medicine, ISSN 0028-4793, 01/2012, Volume 366, Issue 2, pp. 141 - 149
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Tumors of the urinary system | Urinary tract. Prostate gland | Gynecology. Andrology. Obstetrics | General aspects | Nephrology. Urinary tract diseases | Biological and medical sciences | Medical sciences | Male genital diseases | Tumors | Prostatic Neoplasms - pathology | Humans | Middle Aged | Male | Sequence Analysis, DNA | Homeodomain Proteins - genetics | Prostate - pathology | Prostatic Neoplasms - genetics | Chromosomes, Human, Pair 17 | Pedigree | Germ-Line Mutation | High-Throughput Nucleotide Sequencing | Genetic Linkage | Germ cells | Gene mutations | Genetic variation | Physiological aspects | Causes of | Genetic aspects | Research | Prostate cancer | Medical research | Genealogy | Review boards | Studies | Homeobox | Risk assessment | Men | Genetics | Mutation | Prostate | Age | Chromosome 17 | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus | Abridged Index Medicus
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2. Full Text Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior
by Deak, Joseph D and Gizer, Ian R and Otto, Jacqueline M and Bizon, Chris and Wilhelmsen, Kirk C
Journal of studies on alcohol and drugs, ISSN 1937-1888, 11/2019, Volume 80, Issue 6, pp. 585 - 593
Social Sciences | Life Sciences & Biomedicine | Substance Abuse | Psychology | Science & Technology | Genetic research | Antisocial behavior | Genetic aspects | Drinking of alcoholic beverages | Research | Alcohol related disorders | Genes | Alcoholism | Mental health | Externalizing problems | Externalizing behaviour | Antisocial behaviour | Alcohol use | Liability | Gamma-aminobutyric acid | Behavior | Genetic factors | Antisocial personality disorder | Chromosomes | Index Medicus | Genetics and Neuroscience
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3. Full Text Prenatal exome sequencing in anomalous fetuses: New opportunities and challenges
by Vora, Neeta L and Powell, Bradford and Brandt, Alicia and Strande, Natasha and Hardisty, Emily and Gilmore, Kelly and Foreman, Ann Katherine M and Wilhelmsen, Kirk and Bizon, Chris and Reilly, Jason and Owen, Phil and Powell, Cynthia M and Skinner, Debra and Rini, Christine and Lyerly, Anne D and Boggess, Kim A and Weck, Karen and Berg, Jonathan S and Evans, James P
Genetics in medicine, ISSN 1098-3600, 11/2017, Volume 19, Issue 11, pp. 1207 - 1216
counselling | diagnosis | exome | ethics | prenatal | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prospective Studies | Fetal Diseases - diagnosis | Humans | Pregnancy Complications | Male | Fetal Diseases - diagnostic imaging | Mothers | Sequence Analysis, DNA | Socioeconomic Factors | Exome | Fetal Diseases - genetics | Pregnancy | Ultrasonography, Prenatal | Protein Array Analysis | Adult | Female | Fetus | Fathers | Fetal Development - genetics | Retrospective Studies | Prenatal Diagnosis - methods | Karyotype | Fetuses | Genetic counseling | Index Medicus | counseling
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4. Full Text ROBOKOP KG and KGB: Integrated Knowledge Graphs from Federated Sources
by Bizon, Chris and Cox, Steven and Balhoff, James and Kebede, Yaphet and Wang, Patrick and Morton, Kenneth and Fecho, Karamarie and Tropsha, Alexander
Journal of chemical information and modeling, ISSN 1549-9596, 12/2019, Volume 59, Issue 12, pp. 4968 - 4973
Computer Science, Information Systems | Physical Sciences | Computer Science, Interdisciplinary Applications | Chemistry | Life Sciences & Biomedicine | Technology | Computer Science | Pharmacology & Pharmacy | Chemistry, Medicinal | Chemistry, Multidisciplinary | Science & Technology | Data sources | Software upgrading | Index Medicus
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5. Full Text Genetic loci for alcohol-related life events and substance-induced affective symptoms: indexing the “dark side” of addiction
by Peng, Qian and Bizon, Chris and Gizer, Ian R and Wilhelmsen, Kirk C and Ehlers, Cindy L
Translational psychiatry, ISSN 2158-3188, 12/2019, Volume 9, Issue 1, pp. 71 - 71
Life Sciences & Biomedicine | Psychiatry | Science & Technology | Severity of Illness Index | European Continental Ancestry Group - genetics | Gene Expression | Genome-Wide Association Study | United States | Humans | Genetic Loci | Affective Symptoms - genetics | Whole Genome Sequencing | Affective Symptoms - etiology | Indians, North American - genetics | Adult | Alcoholism - genetics | Alcoholism - complications | Cohort Studies | Alcohol | Genomes | Gene expression | Kinases | Index Medicus
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6. Full Text ROBOKOP: an abstraction layer and user interface for knowledge graphs to support question answering
by Morton, Kenneth and Wang, Patrick and Bizon, Chris and Cox, Steven and Balhoff, James and Kebede, Yaphet and Fecho, Karamarie and Tropsha, Alexander
BIOINFORMATICS, ISSN 1367-4803, 12/2019, Volume 35, Issue 24, pp. 5382 - 5384
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Index Medicus | Applications Notes
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7. Full Text Genome‐wide meta‐analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence
by Yin, Xianyong and Bizon, Chris and Tilson, Jeffrey and Lin, Yuan and Gizer, Ian R and Ehlers, Cindy L and Wilhelmsen, Kirk C
American journal of medical genetics. Part B, Neuropsychiatric genetics, ISSN 1552-4841, 07/2017, Volume 174, Issue 5, pp. 557 - 567
nonsynonymous variants | expression quantitative trait locus | nicotine dependence | susceptibility genes | genome‐wide meta‐analysis | genome-wide meta-analysis | Genetics & Heredity | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Brain | Genomes | RNA | Analysis | Genomics | Coding | Heritability | Drug dependence | Gene expression | Non-coding RNA | Genotypes | Nicotine dependence
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8. Full Text ClinGen advancing genomic data‐sharing standards as a GA4GH driver project
by Dolman, Lena and Page, Angela and Babb, Lawrence and Freimuth, Robert R and Arachchi, Harindra and Bizon, Chris and Brush, Matthew and Fiume, Marc and Haendel, Melissa and Hansen, David P and Milosavljevic, Aleksandar and Patel, Ronak Y and Pawliczek, Piotr and Yates, Andrew D and Rehm, Heidi L
Human mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1686 - 1689
standards | variant annotation | genomic knowledge | data sharing | variant representation | phenotype ontology | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Genomics | Humans | Computational Biology | Information Dissemination - methods | Databases, Genetic | Genome, Human - genetics | Precision Medicine | Analysis | International cooperation | Data processing | Phenotypes | Precision medicine | Standards
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9. Full Text Whole genome sequence study of cannabis dependence in two independent cohorts
by Gizer, Ian R and Bizon, Chris and Gilder, David A and Ehlers, Cindy L and Wilhelmsen, Kirk C
Addiction biology, ISSN 1355-6215, 01/2018, Volume 23, Issue 1, pp. 461 - 473
whole genome sequencing | cannabis | genetic association | genetics | marijuana dependence | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Substance Abuse | Science & Technology | Analysis | Genes | Genomics | Genetic research | Family | Development and progression | Marijuana | Genomes | Nucleotide sequencing | Native Americans | Mental illness | DNA sequencing | Alternative splicing | Nucleotide sequence | Mental disorders | Channel gating | Schizophrenia | Data processing | Population studies | Regulatory sequences | Pccb gene | Minority & ethnic groups | Cell adhesion & migration | Genetic variance | Cannabis | DNA microarrays | Etiology | Cell adhesion
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10. Full Text Pre-calculated protein structure alignments at the RCSB PDB website
by Prlić, Andreas and Bliven, Spencer and Rose, Peter W and Bluhm, Wolfgang F and Bizon, Chris and Godzik, Adam and Bourne, Philip E
Bioinformatics, ISSN 1367-4803, 12/2010, Volume 26, Issue 23, pp. 2983 - 2985
Statistics & Probability | Biochemistry & Molecular Biology | Physical Sciences | Computer Science, Interdisciplinary Applications | Life Sciences & Biomedicine | Technology | Biochemical Research Methods | Computer Science | Mathematics | Biotechnology & Applied Microbiology | Science & Technology | Mathematical & Computational Biology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | General aspects | Mathematics in biology. Statistical analysis. Models. Metrology. Data processing in biology (general aspects) | Amino Acid Sequence | User-Computer Interface | Algorithms | Databases, Protein | Software | Structural Homology, Protein | Internet | Proteins - chemistry | Index Medicus | Applications Note
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11. Full Text ClinGen Allele Registry links information about genetic variants
by Pawliczek, Piotr and Patel, Ronak Y and Ashmore, Lillian R and Jackson, Andrew R and Bizon, Chris and Nelson, Tristan and Powell, Bradford and Freimuth, Robert R and Strande, Natasha and Shah, Neethu and Paithankar, Sameer and Wright, Matt W and Dwight, Selina and Zhen, Jimmy and Landrum, Melissa and McGarvey, Peter and Babb, Larry and Plon, Sharon E and Milosavljevic, Aleksandar and Clinical Genome ClinGen Resource and Clinical Genome (ClinGen) Resource and on behalf of the Clinical Genome (ClinGen) Resource
Human mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1690 - 1701
HGVS representation | pathogenicity of genetic variants | linked data | variant identifiers | variant centric resources | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Databases, Genetic | Registries | Genetic Variation - genetics | Software | Humans | Alleles | Applications programming | Raw materials | Pathogenicity | Genetic variance | Data processing | Application programming interface | Nucleotide sequence | Informatics | Special Issue
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