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1. Full Text Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura M and Amendola, Laura and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B 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 Chung, Wendy and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha and Knoppers, Bartha M and Koenig, Barbara A and Krantz, Ian 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, Will and Parsons, Donald W and Petersen, Gloria and Petersen, Gloria M and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Marguerite E and Robinson, Jill O and Robinson, Dan and Salama, Joseph and Salama, Joseph S and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1051 - 1066
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and... 
RESEARCH PARTICIPANTS | ACMG RECOMMENDATIONS | PERCEIVED UTILITY | BEHAVIORAL ECONOMICS | GENETICS & HEREDITY | WHOLE-EXOME | INCIDENTAL-FINDINGS | MEDSEQ PROJECT | OBTAINING INFORMED-CONSENT | ELECTRONIC HEALTH RECORD | GENETIC RESEARCH FINDINGS | 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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2. Full Text Experiences with obtaining informed consent for genomic sequencing
by Bernhardt, Barbara A and Roche, Myra I and Perry, Denise L and Scollon, Sarah R and Tomlinson, Ashley N and Skinner, Debra
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2635 - 2646
Despite the increased utilization of genome and exome sequencing, little is known about the actual content and process of informed consent for sequencing. We... 
genetic counseling | genomic sequencing | qualitative research | informed consent | genetic testing | Qualitative research | Informed consent | Genetic counseling | Genetic testing | Genomic sequencing | EXOME | TUMOR | CLINICAL INTERPRETATION | MEDICINE | CARE | RETURN | INTERVENTIONS | RECOMMENDATIONS | ERA | PERSPECTIVES | GENETICS & HEREDITY | Informed Consent | Perception | Genome, Human | Sequence Analysis, DNA - methods | Health Personnel | Humans | Analysis | Genomics | Informed consent (Medical law) | Index Medicus
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3. Full Text Clinical providers' experiences with returning results from genomic sequencing: An interview study
by Wynn, Julia and Lewis, Katie and Amendola, Laura M and Bernhardt, Barbara A and Biswas, Sawona and Joshi, Manasi and McMullen, Carmit and Scollon, Sarah
BMC Medical Genomics, ISSN 1755-8794, 05/2018, Volume 11, Issue 1, pp. 45 - 45
Background: Current medical practice includes the application of genomic sequencing (GS) in clinical and research settings. Despite expanded use of this... 
Secondary results | Genetic counseling | Genomic results | Genomic sequencing | Exome sequencing | EXOME | DIAGNOSIS | SECONDARY FINDINGS | IDENTIFICATION | CHALLENGES | INCIDENTAL FINDINGS | INFORMED-CONSENT | INTEGRATION | RECOMMENDATIONS | GENETICS & HEREDITY | Interviews as Topic | Health Personnel - statistics & numerical data | Humans | Whole Genome Sequencing | Medicine | Analysis | Practice | Models | Nucleotide sequencing | Research | DNA sequencing | Index Medicus
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4. Full Text "Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing
by Tomlinson, AN and Skinner, D and Perry, DL and Scollon, SR and Roche, MI and Bernhardt, BA
JOURNAL OF GENETIC COUNSELING, ISSN 1059-7700, 02/2016, Volume 25, Issue 1, pp. 62 - 72
As the use of genomic technology has expanded in research and clinical settings, issues surrounding informed consent for genome and exome sequencing have... 
EXOME | Case examples | Genomic sequencing | Provider experiences | CLINICAL-RESEARCH | INCIDENTAL FINDINGS | RETURN | RECOMMENDATIONS | GENETICS | ERA | GENETICS & HEREDITY | Informed consent | Genetic testing | Decision Making | Informed Consent | Genetic Testing | Humans | Genetic Counseling - methods | Professional-Family Relations | Professional Role | Genome, Human | Medical colleges | Informed consent (Medical law) | Analysis | Genomics | Medical research | Discomfort | Decision making | Clinical research | Genomes | Literacy | Coercion | Genetic counseling | Technology | Challenges | Contextual factors | Understanding | Coordinators | Genetic counselling | Index Medicus
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5. Full Text Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium
by Amendola, Laura M and Robinson, Jill O and Hart, Ragan and Biswas, Sawona and Lee, Kaitlyn and Bernhardt, Barbara A and East, Kelly and Gilmore, Marian J and Kauffman, Tia L and Lewis, Katie L and Roche, Myra and Scollon, Sarah and Wynn, Julia and Blout, Carrie
Journal of Genetic Counseling, ISSN 1059-7700, 10/2018, Volume 27, Issue 5, pp. 1220 - 1227
Clinical and research settings are increasingly incorporating genomic sequencing (GS) technologies. Previous research has explored reasons for declining... 
Human Genetics | Rate of decline | Ethics | Public Health | Biomedicine | Genome sequencing | Gynecology | Reason for decline | Exome sequencing | Clinical Psychology | Clinical Sequencing Exploratory Research (CSER) consortium | POPULATION | WHOLE-GENOME | SOCIAL SCIENCES, BIOMEDICAL | INCIDENTAL FINDINGS | DECISIONS | EXPLORATORY RESEARCH CONSORTIUM | PERSPECTIVES | GENETICS & HEREDITY | GENETIC DISCRIMINATION | HEALTH POLICY & SERVICES | SECONDARY-FINDINGS | HUNTINGTONS-DISEASE | PARTICIPANTS | Genetic research | Medicine, Experimental | Medical research | Analysis | Genomics | Health care | Participation | Decision making | Enrollments | Data processing | Clinical research | Research | Genetic screening | Recruitment | Studies | Consortia | Privacy | Discrimination | Barriers | Informed consent | Aggregate level data | Genetic factors
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6. Full Text Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
by Green, Robert C and Green, Robert and Goddard, Katrina and Goddard, Katrina A.B and Jarvik, Gail P and Amendola, Laura and Amendola, Laura M and Appelbaum, Paul S and Berg, Jonathan S and Bernhardt, Barbara A and Biesecker, Barbara B 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 and Chung, Wendy K and Clayton, Ellen and Clayton, Ellen W and Cooper, Greg M and Cooper, Gregory M and East, Kelly and East, Kelly M and Evans, James P and Evans, Barbara and Fullerton, Stephanie M and Garraway, Levi A and Garrett, Jeremy R and Gray, David E and Gray, Stacy W and Henderson, Gail E and Hindorff, Lucia A and Holm, Ingrid A and Lewis, Michelle and Lewis, Katie and Lewis, Michelle Huckaby and Hutter, Carolyn M and Janne, Pasi A and Joffe, Steve and Joffe, Steven and Kaufman, Dave and Kaufman, David and Knoppers, Bartha M and Knoppers, Bartha and Koenig, Barbara A and Krantz, Ian 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, Will and Parsons, Donald W and Petersen, Gloria M and Petersen, Gloria and Plon, Sharon and Plon, Sharon E and Rehm, Heidi L and Roberts, Scott and Roberts, J. Scott and Robinson, Dan and Robinson, Jill O and Robinson, Marguerite E and Salama, Joseph S and Salama, Joseph and Scollon, Sarah and Sharp, Richard R and Shirts, Brian and Shirts, Brian H and Spinner, Nancy B and Tabor, Holly K and Tarczy-Hornoch, Peter and Veenstra, David L and Wagle, Nikhil and Weck, Karen and Wilfond, Ben and Wilfond, Benjamin S and Wilhelmsen, Kirk C and Wilhelmsen, Kirk and Wolf, Susan M and Wynn, Julia and Yu, Joon-Ho and Amaral, Michelle and Aronson, Samuel J and Arora, Shubhangi and Azzariti, Danielle R and Barsh, Greg S and Bebin, E.M and Brown, Brian L and Burt, Amber A and Byers, Peter H and Calikoglu, Muge G and ... and CSER Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 246 - 246
GENETICS & HEREDITY
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7. Full Text GENE-09. MUTATION SIGNATURE ANALYSIS IN AN ULTRAHYPERMUTATED MEDULLOBLASTOMA PREDICTS UNDERLYING GERMLINE POLYMERASE PROOFREADING DEFICIENCY IN A CHILD WITH CLINICAL FEATURES OF CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME
by Lindsay, Holly and Scollon, Sarah and Reuther, Jacquelyn and Voicu, Horatiu and Rednam, Surya and Fisher, Kevin and Chintagumpala, Murali and Parsons, D Will and Adesina, Adekunle and Plon, Sharon and Roy, Angshumoy
Neuro-Oncology, ISSN 1522-8517, 04/2019, Volume 21, Issue Supplement_2, pp. ii82 - ii83
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8. Full Text “Not Tied Up Neatly with a Bow”: Professionals’ Challenging Cases in Informed Consent for Genomic Sequencing
by Tomlinson, Ashley N and Skinner, Debra and Perry, Denise L and Scollon, Sarah R and Roche, Myra I and Bernhardt, Barbara A
Journal of Genetic Counseling, ISSN 1059-7700, 02/2016, Volume 25, Issue 1, pp. 62 - 72
As the use of genomic technology has expanded in research and clinical settings, issues surrounding informed consent for genome and exome sequencing have... 
Informed consent | Case examples | Genetic testing | Genomic sequencing | Provider experiences | genomic sequencing | informed consent | case examples | provider experiences | genetic testing
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9. Discourse across languages and cultures
by Moder, Carol Lynn and Martinovic-Zic, Aida
2004, Studies in language companion series, ISBN 158811449X, Volume 68, vi, 361
Discourse analysis | Intercultural communication
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10. Full Text Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))
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 ...
American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, p. 246
(The American Journal of Human Genetics 98, 1051–1066; June 2, 2016) In the originally published version of this article, the first name of Christian R.... 
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11. Illustrative case studies in the return of exome and genome sequencing results
by Amendola, Laura M and Lautenbach, Denise and Scollon, Sarah and Bernhardt, Barbara and Biswas, Sawona and East, Kelly and Everett, Jessica and Gilmore, Marian J and Himes, Patricia and Raymond, Victoria M and Wynn, Julia and Hart, Ragan and Jarvik, Gail P and CSER Genetic Counseling Working Gr and CSER Genetic Counseling Working Group
Personalized Medicine, ISSN 1741-0541, 06/2015, Volume 12, Issue 3, pp. 283 - 295
Whole genome and exome sequencing tests are increasingly being ordered in clinical practice, creating a need for research exploring the return of results from... 
genetic counseling | genomic medicine | return of results | clinical genomics | exome sequencing | genome sequencing | incidental findings | case studies | personalized medicine | PROJECT | ATTITUDES | INFORMED-CONSENT | PREFERENCES | GENES | PHARMACOLOGY & PHARMACY | PARTICIPANTS | PARTNERSHIP | Studies | Medical research | Ethics | Pediatrics | Genetic counseling | Working groups | Genomics | Families & family life | Genomes | Disclosure
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12. Full Text Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz–Jeghers phenotype
by Scollon, Sarah and McWalter, Kirsty and Abe, Keith and King, Jeremy and Kimata, Kevin and Slavin, Thomas P
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2012, Volume 158A, Issue 11, pp. 2959 - 2962
We report on clinical and molecular findings of a 15‐year‐old female referred to our genetics clinic for a diagnostic evaluation due to mild developmental... 
Peutz–Jeghers syndrome | chromosome 19p deletion | contiguous gene deletion syndrome | Chromosome 19p deletion | Contiguous gene deletion syndrome | Peutz-Jeghers syndrome | GENETICS & HEREDITY | DELETION | Chromosome Deletion | Chromosomes, Human, Pair 19 | Phenotype | Stomach - pathology | Humans | Adolescent | Protein-Serine-Threonine Kinases - genetics | Female | Peutz-Jeghers Syndrome - diagnosis | Peutz-Jeghers Syndrome - genetics | Polyps - genetics | Haploinsufficiency | Medical colleges | Anopheles | Genes | Genetic research | Genetics | Genetic aspects | Seizures (Medicine) | Index Medicus | Cancer
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13. Full Text Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject
by Scollon, Sarah and Bergstrom, Katie and McCullough, Laurence B and McGuire, Amy L and Gutierrez, Stephanie and Kerstein, Robin and Parsons, D. Williams and Plon, Sharon E
The Journal of Law, Medicine & Ethics, ISSN 1073-1105, 10/2015, Volume 43, Issue 3, pp. 529 - 537
The return of genetic research results after death in the pediatric setting comes with unique complexities. Researchers must determine which results and... 
LAW | MEDICINE, LEGAL | MEDICAL ETHICS | CHALLENGES | CHILDREN | RECQL4 | INFORMED-CONSENT | PERSPECTIVES | ROTHMUND-THOMSON-SYNDROME | OSTEOSARCOMA | MUTATIONS | PARTICIPANTS | ETHICS | Neoplasms - genetics | Humans | Child, Preschool | Adult | Death | Disclosure - ethics | Genetic Research - ethics | Research Subjects | Child | Genomics - ethics | Access control | Analysis | Medical records | Research ethics | Genetic aspects | Research | Cancer in children | Cancer | Ethics | Pediatrics | Mortality | Genetic research | Bioethics | Clinical trials | Genetics | Health technology assessment
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14. 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
To describe how linguistic tools used by interpreters during return of genomic sequencing results may have impacted communication with Spanish-speaking... 
Healthcare disparities | Spanish-speakers | Limited English proficiency | Genetics | Empathy | Cultural competency | Communication barriers | QUALITY | LANGUAGE BARRIERS | PROVIDER COMMUNICATION | CULTURE | SATISFACTION | IMPACT | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | WORK | HEALTH-CARE | SOCIAL SCIENCES, INTERDISCIPLINARY | Usage | English as a second language | Translators (Persons) | Discrimination in medical care | Health care disparities
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