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1. 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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2. 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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3. 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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4. 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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5. Full Text Civic Engagement, Autism and Deliberative Democracy: Prioritizing the Inclusion of Marginalized Perspectives
by Tabor, Holly K
American journal of bioethics, ISSN 1526-5161, 04/2020, Volume 20, Issue 4, pp. 41 - 43
Ethics | Social Sciences | Social Sciences - Other Topics | Life Sciences & Biomedicine | Social Sciences, Biomedical | Medical Ethics | Biomedical Social Sciences | Social Issues | Science & Technology | Democracy | Politics | Autistic Disorder | Humans | Morals | Index Medicus | Bioethics
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6. Full Text Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
by McMillin, Margaret J and Beck, Anita E and Chong, Jessica X and Shively, Kathryn M and Buckingham, Kati J and Gildersleeve, Heidi I.S and Aracena, Mariana I and Aylsworth, Arthur S and Bitoun, Pierre and Carey, John C and Clericuzio, Carol L and Crow, Yanick J and Curry, Cynthia J and Devriendt, Koenraad and Everman, David B and Fryer, Alan and Gibson, Kate and Giovannucci Uzielli, Maria Luisa and Graham, John M and Hall, Judith G and Hecht, Jacqueline T and Heidenreich, Randall A and Hurst, Jane A and Irani, Sarosh and Krapels, Ingrid P.C and Leroy, Jules G and Mowat, David and Plant, Gordon T and Robertson, Stephen P and Schorry, Elizabeth K and Scott, Richard H and Seaver, Laurie H and Sherr, Elliott and Splitt, Miranda and Stewart, Helen and Stumpel, Constance and Temel, Sehime G and Weaver, David D and Whiteford, Margo and Williams, Marc S and Tabor, Holly K and Smith, Joshua D and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and University of Washington Center for Mendelian Genomics
American journal of human genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Retinal Diseases - genetics | Humans | Child, Preschool | Ion Channels - genetics | Blepharophimosis - pathology | Male | Cleft Palate - genetics | Contracture - genetics | Blepharophimosis - genetics | Clubfoot - genetics | Arachnodactyly - genetics | Retinal Diseases - pathology | Female | Arthrogryposis - pathology | Child | Abnormalities, Multiple - genetics | Ophthalmoplegia - pathology | Contracture - pathology | Arthrogryposis - genetics | Exome - genetics | Hand Deformities, Congenital - genetics | Pedigree | Cleft Palate - pathology | Connective Tissue Diseases - pathology | Arachnodactyly - pathology | Connective Tissue Diseases - genetics | Ophthalmoplegia - genetics | Mutation | Clubfoot - pathology | Hand Deformities, Congenital - pathology | Physiological aspects | Genetic research | Genetic disorders | Research | Gene mutations | Genotype & phenotype | Index Medicus | Report
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7. Full Text De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
by Chong, Jessica X and McMillin, Margaret J and Shively, Kathryn M and Beck, Anita E and Marvin, Colby T and Armenteros, Jose R and Buckingham, Kati J and Nkinsi, Naomi T and Boyle, Evan A and Berry, Margaret N and Bocian, Maureen and Foulds, Nicola and Uzielli, Maria Luisa Giovannucci and Haldeman-Englert, Chad and Hennekam, Raoul C.M and Kaplan, Paige and Kline, Antonie D and Mercer, Catherine L and Nowaczyk, Malgorzata J.M and Klein Wassink-Ruiter, Jolien S and McPherson, Elizabeth W and Moreno, Regina A and Scheuerle, Angela E and Shashi, Vandana and Stevens, Cathy A and Carey, John C and Monteil, Arnaud and Lory, Philippe and Tabor, Holly K and Smith, Joshua D and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and Shendure, Jay and Nickerson, Deborah A and Abecasis, Gonçalo R and Anderson, Peter and Blue, Elizabeth Marchani and Annable, Marcus and Browning, Brian L and Buckingham, Kati J and Chen, Christina and Chin, Jennifer and Chong, Jessica X and Cooper, Gregory M and Davis, Colleen P and Frazar, Christopher and Harrell, Tanya M and He, Zongxiao and Jain, Preti and Jarvik, Gail P and Jimenez, Guillaume and Johanson, Eric and Jun, Goo and Kircher, Martin and Kolar, Tom and Krauter, Stephanie A and Krumm, Niklas and Leal, Suzanne M and Luksic, Daniel and Marvin, Colby T and McMillin, Margaret J and McGee, Sean and O’Reilly, Patrick and Paeper, Bryan and Patterson, Karynne and Perez, Marcos and Phillips, Sam W and Pijoan, Jessica and Poel, Christa and Reinier, Frederic and Robertson, Peggy D and Santos-Cortez, Regie and Shaffer, Tristan and Shephard, Cindy and Shively, Kathryn M and Siegel, Deborah L and Smith, Joshua D and Staples, Jeffrey C and Tabor, Holly K and Tackett, Monica and Underwood, Jason G and Wegener, Marc and Wang, Gao and Wheeler, Marsha M and Yi, Qian and Bamshad, Michael J and University of Washington Center for Mendelian Genomics and Univ Washington
American journal of human genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 462 - 473
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Muscle Hypotonia - genetics | Cytoskeletal Proteins - genetics | Face - abnormalities | Gene Frequency | Humans | Infant | Male | Arthrogryposis - genetics | Mutation, Missense | Contracture - genetics | Craniofacial Dysostosis - genetics | Exome | Homozygote | Sodium Channels - metabolism | Cytoskeletal Proteins - metabolism | Female | High-Throughput Nucleotide Sequencing | Sodium Channels - genetics | Extremities - physiopathology | Causes of | Genetic research | Genetic aspects | Research | Gene mutations | Freeman-Sheldon syndrome | Proteins | Genotype & phenotype | Amino acids | Mutation | Neurological disorders | Index Medicus | Life Sciences | Report
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8. 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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