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1. 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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2. Full Text Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
by Green, Robert C and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Burke, Wylie and Caga-anan, Charlisse F and Chinnaiyan, Arul M and Chung, Wendy K and Clayton, Ellen W and Cooper, Gregory M and East, Kelly and Evans, James P and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steven and Kaufman, David and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian D and Manolio, Teri A and McCullough, Laurence and McEwen, Jean and McGuire, Amy and Muzny, Donna and Myers, Richard M and Nickerson, Deborah A and Ou, Jeffrey and Parsons, Donald W and Petersen, Gloria M and Plon, Sharon E and Rehm, Heidi L and Roberts, J. Scott and Robinson, Dan and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Benjamin S and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Amendola, Laura and Appelbaum, Paul S and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Biesecker, Barbara B and Biesecker, Leslie G and Biswas, Sawona and Blout, Carrie L and Bowling, Kevin M and Brothers, Kyle B and Brown, Brian L and Burt, Amber A and Byers, Peter H and Caga-anan, Charlisse F and Calikoglu, Muge G and Carlson, Sara J and Chahin, Nizar and Chinnaiyan, Arul M and Christensen, Kurt D and Chung, Wendy and Cirino, Allison L and Clayton, Ellen and Conlin, Laura K and Cooper, Greg M and Crosslin, David R and Davis, James V and Davis, Kelly and Deardorff, Matthew A and Devkota, Batsal and De Vries, Raymond and Diamond, Pamela and Dorschner, Michael O and ... and the CSER Consortium and CSER Consortium
American journal of human genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Evidence-Based Practice | United States | Humans | Clinical Trials as Topic | Cardiovascular Diseases - genetics | Exome - genetics | National Human Genome Research Institute (U.S.) | Polymorphism, Single Nucleotide - genetics | Adult | Biomedical Research | Population Groups | Software | Genome, Human | Genomics - methods | High-Throughput Nucleotide Sequencing - methods | Child | Genetic research | Nucleotide sequencing | Methods | DNA sequencing | Medical diagnosis | Electronic health records | Genomics | Genes | Children & youth | Index Medicus
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3. Full Text Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
by Jarvik, Gail P and Amendola, Laura M and Berg, Jonathan S and Brothers, Kyle and Clayton, Ellen W and Chung, Wendy and Evans, Barbara J and Evans, James P and Fullerton, Stephanie M and Gallego, Carlos J and Garrison, Nanibaa’ A and Gray, Stacy W and Holm, Ingrid A and Kullo, Iftikhar J and Lehmann, Lisa Soleymani and McCarty, Cathy and Prows, Cynthia A and Rehm, Heidi L and Sharp, Richard R and Salama, Joseph and Sanderson, Saskia and Van Driest, Sara L and Williams, Marc S and Wolf, Susan M and Wolf, Wendy A and Harley, John and Myers, Melanie and Namjou, Bahram and Vinks, Sander and Connolly, John and Keating, Brendan and Gerhard, Glenn and Sundaresan, Agnes and Tromp, Gerard and Crosslin, David and Leppig, Kathy and Wicklund, Cathy and Chute, Christopher and Lynch, John and De Andrade, Mariza and Heit, John and McCormick, Jen and Brilliant, Murray and Kitchner, Terrie and Ritchie, Marylyn and Böttinger, Erwin and Peter, Inga and Persell, Stephen and Rasmussen-Torvik, Laura and McGregor, Tracy and Roden, Dan and Antommaria, Armand and Chiavacci, Rosetta and Faucett, Andy and Ledbetter, David and Williams, Janet and Hartzler, Andrea and Vitek, Carolyn R. Rohrer and Frost, Norm and Ferryman, Kadija and Horowitz, Carol and Rhodes, Rosamond and Zinberg, Randi and Aufox, Sharon and Pan, Vivian and Long, Rochelle and Ramos, Erin and Odgis, Jackie and Wise, Anastasia and Hull, Sara and Gitlin, Jonathan and Green, Robert and Metterville, Danielle and McGuire, Amy and Kong, Sek Won and Trinidad, Sue and Veenstra, David and Roche, Myra and Skinner, Debra and Raspberry, Kelly and O’Daniel, Julianne and Parsons, Will and Eng, Christine and Hilsenbeck, Susan and Karavite, Dean and Conlin, Laura and Spinner, Nancy and Krantz, Ian and Falk, Marni and Santani, Avni and Dechene, Elizabeth and Dulik, Matthew and Bernhardt, Barbara and Schuetze, Scott and Everett, Jessica and Gornick, Michele Caroline and Wilfond, Ben and Tabor, Holly and Lemke, Amy A and Richards, Sue and ... and eMERGE Act-ROR Committee and CERC Committee and CSER Act-ROR Working Group and CERC Comm and CSER Act-ROR Working Grp and eMERGE Act-ROR Comm
American journal of human genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 818 - 826
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biomedical Research - ethics | Genetics, Medical - ethics | Patient Access to Records - ethics | Genetic Privacy | Humans | Societies, Scientific | Population Groups | High-Throughput Nucleotide Sequencing | Disclosure | Genome, Human | Genomics - ethics | Genetic research | Research | Nucleotide sequencing | Population genetics | DNA sequencing | Health care industry | Morality | Mutation | Genomics | Medical ethics | Index Medicus
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4. Full Text Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (vol 98, pg 1067, 2016)
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, 07/2016, Volume 99, Issue 1, pp. 247 - 247
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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5. 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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6. 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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7. Full Text A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
by O'Daniel, Julianne M and McLaughlin, Heather M and Amendola, Laura M and Bale, Sherri J and Berg, Jonathan S and Bick, David and Bowling, Kevin M and Chao, Elizabeth C and Chung, Wendy K and Conlin, Laura K and Cooper, Gregory M and Das, Soma and Deignan, Joshua L and Dorschner, Michael O and Evans, James P and Ghazani, Arezou A and Goddard, Katrina A and Gornick, Michele and Farwell Hagman, Kelly D and Hambuch, Tina and Hegde, Madhuri and Hindorff, Lucia A and Holm, Ingrid A and Jarvik, Gail P and Knight Johnson, Amy and Mighion, Lindsey and Morra, Massimo and Plon, Sharon E and Punj, Sumit and Richards, C. Sue and Santani, Avni and Shirts, Brian H and Spinner, Nancy B and Tang, Sha and Weck, Karen E and Wolf, Susan M and Yang, Yaping and Rehm, Heidi L
Genetics in medicine, ISSN 1098-3600, 05/2017, Volume 19, Issue 5, pp. 575 - 582
genome sequencing | exome sequencing | laboratory standards | clinical reporting | genetic testing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Laboratories - standards | Genetic Testing - standards | Humans | Incidental Findings | Sequence Analysis, DNA - standards | Disclosure | Genetic Testing - methods | Information Dissemination | Sample Size | Laboratories - ethics | Research Report | Surveys and Questionnaires | Sequence Analysis, DNA - methods | Practice Guidelines as Topic | Index Medicus
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8. Full Text A cosmological exclusion plot: Towards model-independent constraints on modified gravity from current and future growth rate data
by Taddei, Laura and Amendola, Luca
Journal of cosmology and astroparticle physics, ISSN 1475-7516, 02/2015, Volume 2015, Issue 2, pp. 1 - 1
modified gravity | dark energy theory | Physical Sciences | Astronomy & Astrophysics | Physics, Particles & Fields | Physics | Science & Technology | DENSITY | MATTER | RED SHIFT | ERRORS | ASTROPHYSICS, COSMOLOGY AND ASTRONOMY | LIMITING VALUES | GRAVITATION | GALACTIC EVOLUTION | GALAXIES | POISSON EQUATION | SPECTRA | ACCURACY
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