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1. Full Text Attitudes of Genetics Professionals Toward the Return of Incidental Results from Exome and Whole-Genome Sequencing
by Yu, Joon-Ho and Harrell, Tanya M and Jamal, Seema M and Tabor, Holly K and Bamshad, Michael J
American journal of human genetics, ISSN 0002-9297, 07/2014, Volume 95, Issue 1, pp. 77 - 84
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Attitude of Health Personnel | Humans | Incidental Findings | Adult | Genome, Human | Child | Genetics, Medical - manpower | Genetic research | Geneticists | Research | Nucleotide sequencing | Beliefs, opinions and attitudes | DNA sequencing | Attitudes | Genetics | Adults | Patients | Genomics | Index Medicus
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2. Full Text Exome sequencing as a tool for Mendelian disease gene discovery
by Shendure, Jay and Bamshad, Michael J and Ng, Sarah B and Emond, Mary J and Nickerson, Deborah A and Bigham, Abigail W and Tabor, Holly K
Nature reviews. Genetics, ISSN 1471-0056, 11/2011, Volume 12, Issue 11, pp. 745 - 755
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Exome - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Phenotype | Pedigree | Base Sequence | Humans | Alleles | Molecular Sequence Data | Genome, Human | Sequence Analysis, DNA - methods | Usage | Genetic disorders | Research | Diagnosis | Nucleotide sequencing | Exon (Molecular genetics) | Index Medicus
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3. Full Text Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
by Dorschner, Michael O and Amendola, Laura M and Turner, Emily H and Robertson, Peggy D and Shirts, Brian H and Gallego, Carlos J and Bennett, Robin L and Jones, Kelly L and Tokita, Mari J and Bennett, James T and Kim, Jerry H and Rosenthal, Elisabeth A and Kim, Daniel S and Tabor, Holly K and Bamshad, Michael J and Motulsky, Arno G and Scott, C. Ronald and Pritchard, Colin C and Walsh, Tom and Burke, Wylie and Raskind, Wendy H and Byers, Peter and Hisama, Fuki M and Nickerson, Deborah A and Jarvik, Gail P and National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project and Natl Heart Lung And Blood Inst and Grand Opportunity Exome Sequencing
American journal of human genetics, ISSN 0002-9297, 10/2013, Volume 93, Issue 4, pp. 631 - 640
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Genetic Predisposition to Disease | Disease - genetics | Gene Frequency | Humans | Databases, Genetic | Incidental Findings | Penetrance | Polymorphism, Single Nucleotide | Research | Nucleotide sequencing | Gene expression | Genomics | DNA sequencing | Genomes | Biological variation | Mutation | Index Medicus
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4. Full Text Exome sequencing identifies the cause of a mendelian disorder
by Huff, Chad D and Jabs, Ethylin Wang and Shendure, Jay and Tabor, Holly K and Nickerson, Deborah A and Bamshad, Michael J and Buckingham, Kati J and Bigham, Abigail W and Shannon, Paul T and Lee, Choli and Dent, Karin M and Ng, Sarah B
Nature genetics, ISSN 1061-4036, 01/2010, Volume 42, Issue 1, pp. 30 - 35
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Abnormalities, Multiple - pathology | Amino Acid Sequence | Genetic Predisposition to Disease | Humans | Mandibulofacial Dysostosis - pathology | Molecular Sequence Data | Exons - genetics | Family Health | Male | Open Reading Frames - genetics | Syndrome | Sequence Homology, Amino Acid | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Mutation | Sequence Analysis, DNA - methods | Abnormalities, Multiple - genetics | Usage | Pyrimidines | Genetic disorders | Physiological aspects | Diagnosis | Research | Nucleotide sequencing | Methods | Genetics | Life sciences | Genetic counseling | Genes | Index Medicus
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5. Full Text The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
by Chong, Jessica X and Buckingham, Kati J and Jhangiani, Shalini N and Boehm, Corinne and Sobreira, Nara and Smith, Joshua D and Harrell, Tanya M and McMillin, Margaret J and Wiszniewski, Wojciech and Gambin, Tomasz and Coban Akdemir, Zeynep H and Doheny, Kimberly and Scott, Alan F and Avramopoulos, Dimitri and Chakravarti, Aravinda and Hoover-Fong, Julie and Mathews, Debra and Witmer, P. Dane and Ling, Hua and Hetrick, Kurt and Watkins, Lee and Patterson, Karynne E and Reinier, Frederic and Blue, Elizabeth and Muzny, Donna and Kircher, Martin and Bilguvar, Kaya and López-Giráldez, Francesc and Sutton, V. Reid and Tabor, Holly K and Leal, Suzanne M and Gunel, Murat and Mane, Shrikant and Gibbs, Richard A and Boerwinkle, Eric and Hamosh, Ada and Shendure, Jay and Lupski, James R and Lifton, Richard P and Valle, David and Nickerson, Deborah A and Bamshad, Michael J and Centers for Mendelian Genomics and Ctr Mendelian Genomics
American journal of human genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 199 - 215
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Proteins - genetics | Genetics, Medical - trends | Phenotype | Genetics, Medical - methods | Humans | Genetic Diseases, Inborn - genetics | Genetic research | Research | Analysis | Mendel's law | Genotype & phenotype | Genetics | Medical screening | Medical diagnosis | Genomics | Public health | Index Medicus | Review
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6. Full Text Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results
by Tabor, Holly K and Auer, Paul L and Jamal, Seema M and Chong, Jessica X and Yu, Joon-Ho and Gordon, Adam S and Graubert, Timothy A and O’Donnell, Christopher J and Rich, Stephen S and Nickerson, Deborah A and Bamshad, Michael J and NHLBI Exome Sequencing Project
American journal of human genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, pp. 183 - 193
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | European Continental Ancestry Group - genetics | Humans | African Americans - genetics | Chromosome Mapping | Multifactorial Inheritance | Sequence Analysis, DNA | Genome, Human - genetics | Genetic Variation | Exome - genetics | Macular Degeneration - genetics | Base Sequence | Alleles | Models, Genetic | Research | Demographic aspects | Analysis | Exome sequencing | Macular degeneration | Racial differences | Medical screening | Pathogenesis | Genes | Personality traits | Index Medicus
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7. Full Text Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study
by Iyer, Alexander A and Barzilay, Julie R and Tabor, Holly K
Genetics in medicine, ISSN 1098-3600, 06/2020, Volume 22, Issue 11, pp. 1830 - 1837
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Social networks | Index Medicus
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8. Full Text Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
by Emond, Mary J and Louie, Tin and Emerson, Julia and Zhao, Wei and Mathias, Rasika A and Knowles, Michael R and Wright, Fred A and Rieder, Mark J and Tabor, Holly K and Nickerson, Deborah A and Barnes, Kathleen C and Go, Lung and Gibson, Ronald L and Bamshad, Michael J and Natl Heart Lung Blood Inst NHLBI G and National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project and Lung GO
Nature genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 886 - 889
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Miscellaneous hereditary metabolic disorders | Pseudomonas Infections - etiology | Microtubule-Associated Proteins - genetics | Gene Frequency | Humans | Child, Preschool | Dynactin Complex | Infant | Cystic Fibrosis - complications | Linkage Disequilibrium | Pseudomonas Infections - genetics | Exome | Phenotype | Cystic Fibrosis - genetics | Adolescent | Age of Onset | Pseudomonas aeruginosa | Polymorphism, Single Nucleotide | Child | Infant, Newborn | Pseudomonas aeruginosa infections | Cystic fibrosis | Development and progression | Genetic aspects | Research | Infections | Genes | Bacteriology | Index Medicus
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