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1. Genome-scale sequencing in clinical care: Establishing molecular diagnoses and measuring value
by Berg, Jonathan S
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 11/2014, Volume 312, Issue 18, pp. 1865 - 1867
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Molecular Diagnostic Techniques | Humans | Rare Diseases - diagnosis | Female | Male | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Medical diagnosis | Medical research | Genetic testing
Journal Article
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2. Full Text Exploring the importance of case-level clinical information for variant interpretation
by Berg, Jonathan S
Genetics in medicine, ISSN 1098-3600, 01/2017, Volume 19, Issue 1, pp. 3 - 5
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
Journal Article
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3. Full Text Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
by Amendola, Laura M and Jarvik, Gail P and Leo, Michael C and McLaughlin, Heather M and Akkari, Yassmine and Amaral, Michelle D and Berg, Jonathan S and Biswas, Sawona and Bowling, Kevin M and Conlin, Laura K and Cooper, Greg M and Dorschner, Michael O and Dulik, Matthew C and Ghazani, Arezou A and Ghosh, Rajarshi and Green, Robert C and Hart, Ragan and Horton, Carrie and Johnston, Jennifer J and Lebo, Matthew S and Milosavljevic, Aleksandar and Ou, Jeffrey and Pak, Christine M and Patel, Ronak Y and Punj, Sumit and Richards, Carolyn Sue and Salama, Joseph and Strande, Natasha T and Yang, Yaping and Plon, Sharon E and Biesecker, Leslie G and Rehm, Heidi L
American journal of human genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1067 - 1076
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Laboratories - standards | Data Interpretation, Statistical | Guidelines as Topic | Evidence-Based Practice | Genetic Testing - standards | United States | Humans | Incidental Findings | Sequence Analysis, DNA - standards | Mutation - genetics | Exome - genetics | Biomedical Research | Genetic Variation - genetics | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Physiological aspects | Genetic research | Nucleotide sequencing | Methods | Mitogen-activated protein kinases | DNA sequencing | Comparative analysis | Genes | Genomics | Classification | Index Medicus
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4. Full Text ClinGen — The Clinical Genome Resource
by Rehm, Heidi L and Berg, Jonathan S and Brooks, Lisa D and Bustamante, Carlos D and Evans, James P and Landrum, Melissa J and Ledbetter, David H and Maglott, Donna R and Martin, Christa Lese and Nussbaum, Robert L and Plon, Sharon E and Ramos, Erin M and Sherry, Stephen T and Watson, Michael S and ClinGen
The New England journal of medicine, ISSN 0028-4793, 06/2015, Volume 372, Issue 23, pp. 2235 - 2242
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genetic Variation | Genetic Predisposition to Disease - genetics | National Library of Medicine (U.S.) | Genetic Testing | United States | Humans | Genetic Diseases, Inborn - genetics | Databases, Genetic | Genome, Human | Care and treatment | Usage | Genetic disorders | Medical care | Clinical trials | Genomes | Research | Management | Genetic variance | Genetics | Disease | Pathogenesis | Genomics | Index Medicus | Abridged Index Medicus
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5. Full Text Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
by Botkin, Jeffrey R and Belmont, John W and Berg, Jonathan S and Berkman, Benjamin E and Bombard, Yvonne and Holm, Ingrid A and Levy, Howard P and Ormond, Kelly E and Saal, Howard M and Spinner, Nancy B and Wilfond, Benjamin S and McInerney, Joseph D and ASHG Workgrp Pediat Genetic Genomi
American journal of human genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 6 - 21
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Laws, regulations and rules | Youth | Teenagers | Children | Management | Health aspects | Genetic screening | Ethical aspects | Medical ethics | Ethics | Genetic testing | Health education | Genomics | Index Medicus | ASHG Position Statement
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6. Finding the rare pathogenic variants in a human genome
by Evans, James P and Powell, Bradford C and Berg, Jonathan S
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 05/2017, Volume 317, Issue 18, pp. 1904 - 1905
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genetic Variation | Mass Screening | Cost-Benefit Analysis | Humans | Genotype | Penetrance | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Healthy Volunteers | Precision Medicine | Archaeology | Genomes | Genomics | Deoxyribonucleic acid--DNA | DNA sequencing | Gene sequencing
Journal Article
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7. Full Text Dnmt3a is essential for hematopoietic stem cell differentiation
by Challen, Grant A and Sun, Deqiang and Jeong, Mira and Luo, Min and Jelinek, Jaroslav and Berg, Jonathan S and Bock, Christoph and Vasanthakumar, Aparna and Gu, Hongcang and Xi, Yuanxin and Liang, Shoudan and Lu, Yue and Darlington, Gretchen J and Meissner, Alexander and Issa, Jean-Pierre J and Godley, Lucy A and Li, Wei and Goodell, Margaret A
Nature genetics, ISSN 1061-4036, 01/2012, Volume 44, Issue 1, pp. 23 - 31
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Cell physiology | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Cell differentiation, maturation, development, hematopoiesis | Cell Differentiation - genetics | DNA (Cytosine-5-)-Methyltransferases - genetics | DNA Methylation | Animals | Cell Division | Humans | Mice, Inbred C57BL | Hematopoietic Stem Cells - physiology | Mice | Mutation | Mice, Knockout | DNA | Physiological aspects | Genetic aspects | Research | Methylation | Cell differentiation | Hematopoietic stem cells | Bone marrow | DNA methylation | Rodents | Genes | Stem cells | Index Medicus
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8. Full Text ClinGen and ClinVar – Enabling Genomics in Precision Medicine
by Rehm, Heidi L and Berg, Jonathan S and Plon, Sharon E
Human mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1473 - 1475
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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9. Full Text The promise and peril of genomic screening in the general population
by Adams, Michael C and Evans, James P and Henderson, Gail E and Berg, Jonathan S and GeneScreen Investigators
Genetics in medicine, ISSN 1098-3600, 06/2016, Volume 18, Issue 6, pp. 593 - 599
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetics, Population | Humans | Genetic Diseases, Inborn - genetics | False Positive Reactions | Genetic Diseases, Inborn - epidemiology | Genomics - methods | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Whole Exome Sequencing - methods | Index Medicus
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10. Full Text Navigating the nuances of clinical sequence variant interpretation in Mendelian disease
by Strande, Natasha T and Brnich, Sarah E and Roman, Tamara S and Berg, Jonathan S
Genetics in medicine, ISSN 1098-3600, 09/2018, Volume 20, Issue 9, pp. 918 - 926
Variant classification | Clinical genetic testing | ACMG laboratory guideline | Clinical interpretation | Variant interpretation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mendelian Randomization Analysis - methods | Humans | Sequence Analysis, DNA - standards | Genetic Variation - genetics | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Genetic Testing - methods | Sequence Analysis, DNA - methods | Index Medicus | clinical interpretation | variant classification | clinical genetic testing | variant interpretation
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11. BALLROOM: CULTURE AND COSTUME IN COMPETITIVE DANCE
by MARION, JONATHAN S
2008, DRESS, BODY, CULTURE., ISBN 1845208005
Book
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