Heidi L. Rehm

发表

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

Mahdi Sarmady, Rashesh V. Sanghvi, Christian J. Buhay, 2017, Genetics in Medicine.

Points to consider for sharing variant-level information from clinical genetic testing with ClinVar

Melissa J. Landrum, Heidi L. Rehm, Danielle R. Azzariti, 2018, Cold Spring Harbor molecular case studies.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers

Heidi L. Rehm, Elizabeth Hynes, Birgit H. Funke, 2016, Journal of personalized medicine.

Usability of a novel clinician interface for genetic results

David W. Bates, Lynn A. Volk, Lisa P. Newmark, 2012, J. Biomed. Informatics.

A Novel Clinician Interface to Improve Access to Up-to-date Genetic Results

David W. Bates, Lynn A. Volk, Lisa P. Newmark, 2013, AMIA.

Lessons Learned in the Implementation of Novel IT Infrastructure to Communicate Genetic Variant Updates

David W. Bates, Lynn A. Volk, Lisa P. Newmark, 2012, AMIA.

The Clinical Pharmacogenetics Implementation Consortium (CPIC) Term Standardization for Clinical Pharmacogenetic Test Results: Alleles and Phenotypes

Teri E. Klein, Marc S. Williams, Robert R. Freimuth, 2016, CRI.

Harmonizing Clinical Sequencing And Interpretation For The Emerge III Network

Heidi L. Rehm, Richard A. Gibbs, R. Gibbs, 2018, bioRxiv.

Building the foundation for genomics in precision medicine

Heidi L. Rehm, Samuel J. Aronson, H. Rehm, 2015, Nature.

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

Heidi L. Rehm, Danielle R. Azzariti, Erin M. Ramos, 2018, Genetics in Medicine.

Recommendations for Interpreting the Loss of Function PVS1 ACMG/AMP Variant Criteria

Heidi L. Rehm, Leslie G. Biesecker, Steven M. Harrison, 2018, bioRxiv.

A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants with an Orthogonal Method in Clinical Genetic Testing

Marc L. Salit, Matthew S. Lebo, Heidi L. Rehm, 2018, bioRxiv.

Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects

Marylyn D. Ritchie, Joshua C. Denny, Teri E. Klein, 2018, Clinical pharmacology and therapeutics.

The MedSeq and BabySeq studies: integrating genomics into the practice of medicine

Heidi L. Rehm, 2017 .

The evolving landscape of molecular diagnostic testing

Heidi L. Rehm, 2017 .

Launch of the gene curation coalition database

Fiona Cunningham, Ewan Birney, Heidi L. Rehm, 2021 .

Clinical Genome Sequencing

Robert C. Green, Isaac S. Kohane, Heidi L. Rehm, 2013 .

TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells

Heidi L. Rehm, J. R. Holt, David P. Corey, 2004, Nature.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

Shawn Rynearson, Heidi L. Rehm, Aleksandar Milosavljevic, 2017, Genome Medicine.

A One-Page Summary Report of Genome Sequencing for the Healthy Adult

Robert C. Green, Isaac S. Kohane, Heidi L. Rehm, 2015, Public Health Genomics.

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Sivakumar Gowrisankar, Matthew S. Lebo, Heidi L. Rehm, 2014, Genetics in Medicine.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Heidi L. Rehm, Erin Rooney Riggs, 2017, bioRxiv.

A brief history of human disease genetics

Mark I. McCarthy, Heidi L. Rehm, Jay Shendure, 2020, Nature.

Exploring concordance and discordance for return of incidental findings from clinical sequencing

Robert C. Green, Heidi L. Rehm, Jonathan S. Berg, 2012, Genetics in Medicine.

Disease-targeted sequencing: a cornerstone in the clinic

Heidi L. Rehm, H. Rehm, 2013, Nature Reviews Genetics.

Global implementation of genomic medicine: We are not alone

Satoru Miyano, Wasun Chantratita, Andres Metspalu, 2015, Science Translational Medicine.

“Matching” consent to purpose: The example of the Matchmaker Exchange

Anthony A. Philippakis, Michael Brudno, Heidi L. Rehm, 2017, Human mutation.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

J. Michael Cherry, Avni Santani, Heidi L. Rehm, 2017, bioRxiv.

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report

Robert C. Green, Matthew S. Lebo, Heidi L. Rehm, 2018, Cold Spring Harbor molecular case studies.

Short Term Costs of Integrating Whole Genome Sequencing into Primary Care and Cardiology Settings: A Pilot Randomized Trial

Robert C. Green, Natasha K. Stout, Heidi L. Rehm, 2018, Genetics in Medicine.

Reclassification of the BRAF p.Ile208Val variant by case-level data sharing

Heidi L. Rehm, Andrew R. Grant, Sarah E. Hemphill, 2018, Cold Spring Harbor molecular case studies.

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 .

Creating a data resource: what will it take to build a medical information commons?

John Wilbanks, Robert Gentleman, Isaac S. Kohane, 2017, Genome Medicine.

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.

Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting

Heidi L. Rehm, Danielle R. Azzariti, Erin Rooney Riggs, 2018, Genetics in Medicine.

Communicating new knowledge on previously reported genetic variants

Heidi L. Rehm, Samuel J. Aronson, Lawrence J. Babb, 2012, Genetics in Medicine.