L. Amendola

发表

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Dona M. Kanavy, Shannon M. McNulty, Tamara S. Roman, 2020, American journal of human genetics.

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Emily H Turner, T. Walsh, D. Nickerson, 2013, American journal of human genetics.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium

B. Bernhardt, J. Wynn, C. Blout, 2018, Journal of Genetic Counseling.

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Robert C. Green, Heidi L. Rehm, Levi Garraway, 2013, Genetics in Medicine.

Return of genomic results to research participants: the floor, the ceiling, and the choices in between.

Heidi L Rehm, Susan M Wolf, Laura M Amendola, 2014, American journal of human genetics.

Navigating the research–clinical interface in genomic medicine: analysis from the CSER Consortium

Robert C. Green, Gail P. Jarvik, Jonathan S. Berg, 2017, Genetics in Medicine.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Refining the structure and content of clinical genomic reports

Peter Tarczy-Hornoch, Laura M Amendola, Gail P Jarvik, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Nikhil Wagle, Peter Tarczy-Hornoch, Richard M Myers, 2016, American journal of human genetics.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.

Peter Tarczy-Hornoch, Deborah A Nickerson, Laura M Amendola, 2014, Contemporary clinical trials.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.

D. Nickerson, S. Fullerton, M. Dorschner, 2019, Contemporary clinical trials.

A review and definition of ‘usual care’ in genetic counseling trials to standardize use in research

Sarah E Lillie, Marian J. Gilmore, Julianne M. O’Daniel, 2020, Journal of genetic counseling.

Primary Care Physician Experiences with Integrated Population-Scale Genetic Testing: A Mixed-Methods Assessment

P. Hulick, A. Lemke, K. Kuchta, 2020, Journal of personalized medicine.

Scaling Genetic Counseling in the Genomics Era.

K. Golden-Grant, L. Amendola, S. Scollon, 2021, Annual review of genomics and human genetics.

Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience

Kathleen F. Mittendorf, M. Kvale, L. Hindorff, 2022, HGG advances.

The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation

S. Fullerton, P. Heagerty, D. Patrick, 2018, Journal of Genetic Counseling.

ShareDNA: a smartphone app to facilitate family communication of genetic results

S. Mooney, G. Jarvik, L. Amendola, 2021, BMC Medical Genomics.

ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.

M. Dorschner, K. Goddard, B. Wilfond, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

W. Chung, T. Klein, David T. Miller, 2021, Genetics in Medicine.

ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).

T. Klein, David T. Miller, C. Martin, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.

H. Rehm, M. Dorschner, J. Ralston, 2019, American journal of human genetics.

Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis.

Colin C Pritchard, Laura M Amendola, Gail P Jarvik, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing

Peter Tarczy-Hornoch, Laura M Amendola, Gail P Jarvik, 2015, Genetics in Medicine.

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Yaping Yang, Katrina A B Goddard, Kathryn M Porter, 2018, Molecular genetics & genomic medicine.

Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests

M. Dorschner, G. Jarvik, R. Bennett, 2019, Journal of genetic counseling.

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

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))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Clinicopathologic characteristics of breast cancer in BRCA-carriers and non-carriers in women 35 years of age or less.

C. Amos, B. Arun, K. Ready, 2014, Breast.

Variation among DNA banking consent forms: points for clinicians to bank on

L. Amendola, D. Sternen, Samuel J Huang, 2022, Journal of Community Genetics.

A case for expanding carrier testing to include actionable X‐linked disorders

D. Nickerson, K. Goddard, B. Wilfond, 2018, Clinical case reports.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

D. Nickerson, M. Dorschner, K. Goddard, 2018, American journal of human genetics.

Is Incidental Finding the Best Term? A Study of Patients’ Preferences

B. Wilfond, G. Henderson, Julianne M. O’Daniel, 2016, Genetics in Medicine.

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

W. Chung, T. Klein, David T. Miller, 2021, Genetics in Medicine.

Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool

R. Bennett, L. T. Garrett, B. Shirts, 2016, Journal of Genetic Counseling.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

E. Eichler, O. Korvatska, M. Dorschner, 2015, Neurology.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

W. Chung, T. Klein, David T. Miller, 2021, Genetics in Medicine.

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

N. Risch, P. Kwok, S. Fullerton, 2018, American journal of human genetics.

Return of incidental findings in genomic medicine: measuring what patients value—development of an instrument to measure preferences for information from next-generation testing (IMPRINT)

S. Fullerton, D. Patrick, G. Jarvik, 2013, Genetics in Medicine.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations.

Kathleen F. Mittendorf, M. Dorschner, K. Goddard, 2021, Contemporary clinical trials.

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Denise L. Perry, D. Bentley, R. Taft, 2023, Cell genomics.

Discordance in selected designee for return of genomic findings in the event of participant death and estate executor

S. Fullerton, G. Jarvik, W. Burke, 2017, Molecular genetics & genomic medicine.

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

D. Nickerson, M. Dorschner, K. Goddard, 2017, Genetics in Medicine.

Illustrative case studies in the return of exome and genome sequencing results

B. Bernhardt, G. Jarvik, J. Wynn, 2015, Personalized medicine.

Frequency of genomic incidental findings among 21,915 eMERGE network participants

Magalie S Leduc, Marc S. Williams, N. Lennon, 2020, Genetics in Medicine.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2018, Genetics in Medicine.

Clinical providers’ experiences with returning results from genomic sequencing: an interview study

B. Bernhardt, J. Wynn, C. McMullen, 2018, BMC Medical Genomics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

Julianne M. O’Daniel, Shannon Rego, Marian Gilmore, 2021, Journal of personalized medicine.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

Rare loss of function variants in candidate genes and risk of colorectal cancer

Taylor J. Maxwell, Jennifer G. Robinson, Andrew J. Sanford, 2018, Human Genetics.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome

G. Jarvik, A. Burt, C. Pritchard, 2016, Journal of Genetic Counseling.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial.

M. Dorschner, K. Goddard, B. Wilfond, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Kathleen F. Mittendorf, Charisma L. Jenkins, M. Dorschner, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Development and early implementation of an Accessible, Relational, Inclusive and Actionable approach to genetic counseling: The ARIA model.

Marian J. Gilmore, K. Goddard, B. Wilfond, 2020, Patient education and counseling.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death

S. Fullerton, B. Evans, G. Jarvik, 2015, Journal of Law, Medicine & Ethics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Clinical providers’ experiences with returning results from genomic sequencing: an interview study

B. Bernhardt, J. Wynn, C. McMullen, 2018, BMC Medical Genomics.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Making the case for higher-level classification of results reporting: development and implementation of case-level result categories for genetic testing

Pui-Yan Kwok, Bradford C. Powell, Kevin M. Bowling, 2021 .

Patient-Reported Outcomes and Experiences with Population Genetic Testing Offered Through a Primary Care Network

P. Hulick, A. Lemke, K. Kuchta, 2021, Genetic testing and molecular biomarkers.

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

Matthew S. Lebo, Lucia A. Hindorff, Levi Garraway, 2013, Genetics in Medicine.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

Barriers to family history knowledge and family communication among LGBTQ+ individuals in the context of hereditary cancer risk assessment

Kathleen F. Mittendorf, K. Goddard, B. Wilfond, 2021, Journal of genetic counseling.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

W. Foulkes, J. Ngeow, T. Pal, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).

David T. Miller, C. Richards, Kristy Lee, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Generating a taxonomy for genetic conditions relevant to reproductive planning

Diane M. Korngiebel, K. Goddard, B. Wilfond, 2016, American journal of medical genetics. Part A.

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, H. Rehm, K. Goddard, 2019, Genetics in Medicine.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation.

S. Fullerton, P. Heagerty, D. Patrick, 2019, Journal of genetic counseling.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Joseph S. Salama, W. Chung, I. Krantz, 2016, American journal of human genetics.

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

N. Spinner, K. Goddard, L. Hindorff, 2018, Genetics in Medicine.

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

Matthew S. Lebo, L. Garraway, L. Hindorff, 2013, Genetics in Medicine.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Marian J. Gilmore, D. Nickerson, M. Dorschner, 2018, American journal of human genetics.

ERRATUM: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

N. Spinner, R. Green, L. Garraway, 2014, Genetics in Medicine.