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1. Full Text Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
by Hart, M. Ragan and Biesecker, Barbara B and Blout, Carrie L and Christensen, Kurt D and Amendola, Laura M and Bergstrom, Katie L and Biswas, Sawona and Bowling, Kevin M and Brothers, Kyle B and Conlin, Laura K and Cooper, Greg M and Dulik, Matthew C and East, Kelly M and Everett, Jessica N and Finnila, Candice R and Ghazani, Arezou A and Gilmore, Marian J and Goddard, Katrina A. B and Jarvik, Gail P and Johnston, Jennifer J and Kauffman, Tia L and Kelley, Whitley V and Krier, Joel B and Lewis, Katie L and McGuire, Amy L and McMullen, Carmit and Ou, Jeffrey and Plon, Sharon E and Rehm, Heidi L and Richards, C. Sue and Romasko, Edward J and Miren Sagardia, Ane and Spinner, Nancy B and Thompson, Michelle L and Turbitt, Erin and Vassy, Jason L and Wilfond, Benjamin S and Veenstra, David L and Berg, Jonathan S and Green, Robert C and Biesecker, Leslie G and Hindorff, Lucia A
Genetics in medicine, ISSN 1098-3600, 05/2019, Volume 21, Issue 5, pp. 1100 - 1110
genomic sequencing | health-care resource utilization | secondary findings | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prevalence | Genetic Testing - standards | Humans | Incidental Findings | Male | Genetic Testing - ethics | Disclosure | Health Knowledge, Attitudes, Practice | Patients | High-Throughput Nucleotide Sequencing - ethics | Exome | Health Care Costs | Decision Making - ethics | Health Personnel | Adult | Female | Intention | Whole Genome Sequencing - economics | Genetic Testing - economics | Genomics - methods | Whole Genome Sequencing - ethics | Consortia | Index Medicus
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2. Full Text Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features
by Carapito, Raphael and Konantz, Martina and Paillard, Catherine and Miao, Zhichao and Pichot, Angélique and Leduc, Magalie S and Yang, Yaping and Bergstrom, Katie L and Mahoney, Donald H and Shardy, Deborah L and Alsaleh, Ghada and Naegely, Lydie and Kolmer, Aline and Paul, Nicodème and Hanauer, Antoine and Rolli, Véronique and Müller, Joëlle S and Alghisi, Elisa and Sauteur, Loïc and Macquin, Cécile and Morlon, Aurore and Sancho, Consuelo Sebastia and Amati-Bonneau, Patrizia and Procaccio, Vincent and Mosca-Boidron, Anne-Laure and Marle, Nathalie and Osmani, Naël and Lefebvre, Olivier and Goetz, Jacky G and Unal, Sule and Akarsu, Nurten A and Radosavljevic, Mirjana and Chenard, Marie-Pierre and Rialland, Fanny and Grain, Audrey and Bén, Marie-Christine and Eveillard, Marion and Vincent, Marie and Guy, Julien and Faivre, Laurence and Thauvin-Robinet, Christel and Thevenon, Julien and Myers, Kasiani and Fleming, Mark D and Shimamura, Akiko and Bottollier-Lemallaz, Elodie and Westhof, Eric and Lengerke, Claudia and Isidor, Bertrand and Bahram, Seiamak
The Journal of clinical investigation, ISSN 0021-9738, 11/2017, Volume 127, Issue 11, pp. 4090 - 4103
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Exocrine Pancreatic Insufficiency - genetics | Genetic Association Studies | Shwachman-Diamond Syndrome | Congenital Bone Marrow Failure Syndromes | Humans | Signal Recognition Particle - genetics | Models, Molecular | Infant | Male | Zebrafish | Lipomatosis - genetics | Bone Marrow Diseases - genetics | Neutropenia - congenital | Phenotype | Animals | DNA Mutational Analysis | Protein Domains | Female | Pancreas, Exocrine - metabolism | Signal Recognition Particle - chemistry | Neutropenia - genetics | Child | Congenital diseases | Polypeptides | Signal recognition particle | Anemia | Neutrophils | Guanosine triphosphatases | Biosynthesis | Genomes | Mitochondrial DNA | mRNA | Chemotaxis | Patients | Proteins | Guanosine triphosphate | Granulocytes | Bone marrow | Mutation | Pancreas | Age | Deoxyribonucleic acid--DNA | Neutropenia | Index Medicus | Abridged Index Medicus | Life Sciences | Molecular biology | Biochemistry, Molecular Biology
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3. Full Text Genomics and the challenging translation into conservation practice
by Shafer, Aaron B.A and Wolf, Jochen B.W and Alves, Paulo C and Bergström, Linnea and Bruford, Michael W and Brännström, Ioana and Colling, Guy and Dalén, Love and De Meester, Luc and Ekblom, Robert and Fawcett, Katie D and Fior, Simone and Hajibabaei, Mehrdad and Hill, Jason A and Hoezel, A. Rus and Höglund, Jacob and Jensen, Evelyn L and Krause, Johannes and Kristensen, Torsten N and Krützen, Michael and McKay, John K and Norman, Anita J and Ogden, Rob and Österling, E. Martin and Ouborg, N. Joop and Piccolo, John and Popović, Danijela and Primmer, Craig R and Reed, Floyd A and Roumet, Marie and Salmona, Jordi and Schenekar, Tamara and Schwartz, Michael K and Segelbacher, Gernot and Senn, Helen and Thaulow, Jens and Valtonen, Mia and Veale, Andrew and Vergeer, Philippine and Vijay, Nagarjun and Vilà, Carles and Weissensteiner, Matthias and Wennerström, Lovisa and Wheat, Christopher W and Zieliński, Piotr
Trends in ecology & evolution (Amsterdam), ISSN 0169-5347, 02/2015, Volume 30, Issue 2, pp. 78 - 87
Environmental Sciences & Ecology | Ecology | Genetics & Heredity | Life Sciences & Biomedicine | Evolutionary Biology | Science & Technology | Adaptation, Biological | Conservation of Natural Resources - methods | Genetics, Population | Biodiversity | Genome | Genomics | Genetic research | Evolutionary biology | Analysis | Zoology | Fishes | Nature conservation | Index Medicus | genetic diversity | divergence | sequence | dna | population genomics | background selection | insular population | evolution | markers | speciation
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4. Full Text Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
by Hart, M Ragan and Biesecker, Barbara B and Blout, Carrie L and Christensen, Kurt D and Amendola, Laura M and Bergstrom, Katie L and Biswas, Sawona and Bowling, Kevin M and Brothers, Kyle B and Conlin, Laura K and Cooper, Greg M and Dulik, Matthew C and East, Kelly M and Everett, Jessica N and Finnila, Candice R and Ghazani, Arezou A and Gilmore, Marian J and Goddard, Katrina A B and Jarvik, Gail P and Johnston, Jennifer J and Kauffman, Tia L and Kelley, Whitley V and Krier, Joel B and Lewis, Katie L and McGuire, Amy L and McMullen, Carmit and Ou, Jeffrey and Plon, Sharon E and Rehm, Heidi L and Richards, C Sue and Romasko, Edward J and Sagardia, Ane Miren and Spinner, Nancy B and Thompson, Michelle L and Turbitt, Erin and Vassy, Jason L and Wilfond, Benjamin S and Veenstra, David L and Berg, Jonathan S and Green, Robert C and Biesecker, Leslie G and Hindorff, Lucia A
Genetics in medicine, ISSN 1098-3600, 05/2019, Volume 21, Issue 5, pp. 1261 - 1262
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5. Full Text Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience
by Porter, Kathryn M and Kauffman, Tia L and Koenig, Barbara A and Lewis, Katie L and Rehm, Heidi L and Richards, Carolyn Sue and Strande, Natasha T and Tabor, Holly K and Wolf, Susan M and Yang, Yaping and Amendola, Laura M and Azzariti, Danielle R and Berg, Jonathan S and Bergstrom, Katie and Biesecker, Leslie G and Biswas, Sawona and Bowling, Kevin M and Chung, Wendy K and Clayton, Ellen W and Conlin, Laura K and Cooper, Gregory M and Dulik, Matthew C and Garraway, Levi A and Ghazani, Arezou A and Green, Robert C and Hiatt, Susan M and Jamal, Seema M and Jarvik, Gail P and Goddard, Katrina A. B and Wilfond, Benjamin S and CSER Actionability Return Results and members of the CSER Actionability and Return of Results Working Group and The members of the CSER Actionability and Return of Results Working Group
Molecular genetics & genomic medicine, ISSN 2324-9269, 11/2018, Volume 6, Issue 6, pp. 898 - 909
genome | translational genomics research | exome | secondary findings | carrier testing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Facilities and Services Utilization | Genetic Counseling - statistics & numerical data | Humans | Genetic Counseling - methods | Genetic Carrier Screening - statistics & numerical data | Whole Genome Sequencing - methods | Disclosure | Translational Medical Research - methods | Genetic Carrier Screening - methods | Consortia | Translation | Genomics | Medical treatment | Genes | Health risks | Research projects | Gene sequencing | Index Medicus
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6. Full Text Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia
by Bhar, Saleh and Zhou, Fujun and Reineke, Lucas C and Morris, Danna K and Khincha, Payal P and Giri, Neelam and Mirabello, Lisa and Bergstrom, Katie and Lemon, Laramie D and Williams, Christopher L and Toh, Yukimatsu and Elghetany, M. Tarek and Lloyd, Richard E and Alter, Blanche P and Savage, Sharon A and Bertuch, Alison A
Human mutation, ISSN 1059-7794, 11/2020, Volume 41, Issue 11, pp. 1918 - 1930
ribosomopathy | RPS20 | Diamond–Blackfan anemia | yeast model | familial colorectal cancer | Phenotypes | Aplasia | Anemia | Congenital defects | Copy number | Colorectal carcinoma | Evolution | Amino acids | Mutation | Myelodysplastic syndrome | Index Medicus
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7. Full Text Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families
by Gutierrez, Amanda M and Statham, Emily E and Robinson, Jill O and Slashinski, Melody J and Scollon, Sarah and Bergstrom, Katie L and Street, Richard L and Parsons, D. Williams and Plon, Sharon E and McGuire, Amy L
Patient education and counseling, ISSN 0738-3991, 05/2019, Volume 102, Issue 5, pp. 895 - 901
Healthcare disparities | Spanish-speakers | Limited English proficiency | Genetics | Empathy | Cultural competency | Communication barriers | Public, Environmental & Occupational Health | Social Sciences | Social Sciences, Interdisciplinary | Social Sciences - Other Topics | Life Sciences & Biomedicine | Science & Technology | Multilingualism | Genomics | Humans | Physician-Patient Relations | Genetic Counseling | Hispanic Americans - psychology | Allied Health Personnel | Cultural Competency | Language | Communication Barriers | Linguistics | Translating | Female | Communication | Usage | English as a second language | Translators (Persons) | Discrimination in medical care | Health care disparities | Nursing | empathy | genetics | limited English proficiency | communication barriers | cultural competency | healthcare disparities
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8. Diagnostic yield of clinical tumor and germline whole-exome sequencing for children with solid tumors
by Parsons, D. Williams and Roy, Angshumoy and Yang, Yaping and Wang, Tao and Scollon, Sarah and Bergstrom, Katie and Kerstein, Robin A and Gutierrez, Stephanie and Petersen, Andrea K and Bavle, Abhishek and Lin, Frank Y and López-Terrada, Dolores H and Monzon, Federico A and Hicks, M. John and Eldin, Karen W and Quintanilla, Norma M and Adesina, Adekunle M and Mohila, Carrie A and Whitehead, William and Jea, Andrew and Vasudevan, Sanjeev A and Nuchtern, Jed G and Ramamurthy, Uma and McGuire, Amy L and Hilsenbeck, Susan G and Reid, Jeffrey G and Muzny, Donna M and Wheeler, David A and Berg, Stacey L and Chintagumpala, Murali M and Eng, Christine M and Gibbs, Richard A and Plon, Sharon E
JAMA oncology, ISSN 2374-2437, 05/2016, Volume 2, Issue 5, pp. 616 - 624
Life Sciences & Biomedicine | Oncology | Science & Technology
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9. Full Text Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents
by Scollon, Sarah and Majumder, Mary A and Bergstrom, Katie and Wang, Tao and McGuire, Amy L and Robinson, Jill O and Gutierrez, Amanda M and Lee, Caroline H and Hilsenbeck, Susan G and Plon, Sharon E and Parsons, D. Williams and Street, Richard L
Patient education and counseling, ISSN 0738-3991, 04/2019, Volume 102, Issue 4, pp. 680 - 686
Genetic counseling | Clinician-patient communication | Return of results | Exome sequencing | Public, Environmental & Occupational Health | Social Sciences | Social Sciences, Interdisciplinary | Social Sciences - Other Topics | Life Sciences & Biomedicine | Science & Technology | Decision Making | Humans | Middle Aged | Oncologists - psychology | Physician-Patient Relations | Professional-Family Relations | Neoplasms - psychology | Disclosure | Genetic Counseling | Medical Oncology | Exome - genetics | Neoplasms - genetics | Parents - psychology | Adult | Patients - psychology | Physicians - psychology | Child | Communication | Physician and patient | Parenting | Pediatrics | Analysis | Medical genetics | Medical care | Cancer in children | Quality management | Nursing | genetic counseling | return of results | whole exome sequencing
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