Heidi L Rehm

发表

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.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Good laboratory practice for clinical next-generation sequencing informatics pipelines

Shashikant Kulkarni, Pavel Skums, David S. Campo, 2015, Nature Biotechnology.

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

Matthew S. Lebo, Marc Salit, Justin M Zook, 2019, The Journal of molecular diagnostics : JMD.

Using ClinVar as a Resource to Support Variant Interpretation

Annie Niehaus, Heidi L Rehm, Danielle R Azzariti, 2016, Current protocols in human genetics.

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.

Karen Eilbeck, Justin M Zook, Gabor Marth, 2017, The Journal of molecular diagnostics : JMD.

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines

Heidi L Rehm, Steven M Harrison, Leslie G Biesecker, 2019, Current protocols in human genetics.

A public resource facilitating clinical use of genomes

Euan A Ashley, Jong Bhak, Leonid Peshkin, 2012, Proceedings of the National Academy of Sciences.

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Birgit Funke, Sivakumar Gowrisankar, Matthew S. Lebo, 2015, Genetics in Medicine.

All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health.

Gil Alterovitz, Bin Tean Teh, Mark Lawler, 2015, Cancer discovery.

Summarizing polygenic risks for complex diseases in a clinical whole-genome report

In-Hee Lee, Peter Kraft, Ignaty Leshchiner, 2014, Genetics in Medicine.

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.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Soma Das, Heidi L Rehm, Brian H Shirts, 2018, Human mutation.

ClinGen--the Clinical Genome Resource.

Heidi L Rehm, Jonathan S Berg, Stephen T Sherry, 2015, The New England journal of medicine.

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

Michelle Whirl-Carrillo, Heidi L Rehm, Teri E Klein, 2016, Genetics in Medicine.

New approaches to molecular diagnosis.

Heidi L Rehm, Bruce R Korf, H. Rehm, 2013, JAMA.

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

Heidi L Rehm, Ahmad N Abou Tayoun, Birgit H Funke, 2015, Genetics in Medicine.

Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice.

David R Williams, David R. Williams, Heidi L Rehm, 2018, Health affairs.

ClinGen advancing genomic data‐sharing standards as a GA4GH driver project

Melissa Haendel, Matthew H. Brush, Aleksandar Milosavljevic, 2018, Human mutation.

Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates

Lisa P. Newmark, Stephanie Klinkenberg-Ramirez, Heidi L Rehm, 2016, Applied Clinical Informatics.

Use and interpretation of genetic tests in cardiovascular genetics

Heidi L Rehm, Colleen Caleshu, C. Caleshu, 2010, Heart.

GJB2 mutations and degree of hearing loss: a multicenter study.

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Birgit Funke, William Craigen, Heidi L Rehm, 2018, Human mutation.

Genetic Misdiagnoses and the Potential for Health Disparities.

Peter Szolovits, Joseph Loscalzo, Isaac S Kohane, 2016, The New England journal of medicine.

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Matthew S. Lebo, Heidi L Rehm, Danielle R Azzariti, 2017, Annals of internal medicine.

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.

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

Alex Chapin, Margaret Kenna, Heidi L Rehm, 2018, bioRxiv.

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

Darlene Riethmaier, Erin Rooney Riggs, Heidi L Rehm, 2013, Human mutation.

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

Isaac S Kohane, Sek Won Kong, Heidi L Rehm, 2014, Trials.

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Heidi L Rehm, Michelle Fox, Daryl A Scott, 2014, Genetics in Medicine.

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Sivakumar Gowrisankar, Heidi L Rehm, Birgit H Funke, 2014, The Journal of molecular diagnostics : JMD.

Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar

Soma Das, Heidi L Rehm, Danielle R Azzariti, 2017, Genetics in Medicine.

Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

Sivakumar Gowrisankar, Megan Manion, Heidi L Rehm, 2010, The Journal of molecular diagnostics : JMD.

Matchmaker Exchange

Tudor Groza, Julius O. B. Jacobsen, Orion J. Buske, 2017, Current protocols in human genetics.

Updated recommendation for the benign stand‐alone ACMG/AMP criterion

Heidi L Rehm, Leslie G Biesecker, H. Rehm, 2018, Human mutation.

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.

ClinVar Miner: Demonstrating utility of a Web‐based tool for viewing and filtering ClinVar data

Karen Eilbeck, Heidi L Rehm, Danielle R Azzariti, 2018, Human mutation.

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

Matthew S. Lebo, Isaac S Kohane, Heidi L Rehm, 2014, BMC Medical Genetics.

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.

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

Gunnar Rätsch, Brian Craft, David Haussler, 2018, PLoS genetics.

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Heidi L Rehm, Jonathan S Berg, Leslie G Biesecker, 2017, Genetics in Medicine.

A novel clinician interface to improve clinician access to up-to-date genetic results.

Lisa P. Newmark, Heidi L Rehm, David W Bates, 2014, Journal of the American Medical Informatics Association : JAMIA.

Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

Tudor Groza, Damian Smedley, Barend Mons, 2013, Human mutation.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Heidi L Rehm, Wadih M Zein, Zawar Hussain, 2011, Journal of Medical Genetics.

The GeneInsight suite: a platform to support laboratory and provider use of DNA‐based genetic testing

Elaine Lyon, Heidi L Rehm, Birgit H Funke, 2011, Human mutation.

Shared genetic causes of cardiac hypertrophy in children and adults.

Heidi L Rehm, Raju Kucherlapati, Hiroyuki Morita, 2008, The New England journal of medicine.

Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

Heidi L Rehm, Birgit H Funke, H. Rehm, 2013, The Journal of molecular diagnostics : JMD.

matchbox: An open‐source tool for patient matching via the Matchmaker Exchange

Damian Smedley, Melissa Haendel, Julius O. B. Jacobsen, 2018, Human mutation.

Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.

Heidi L Rehm, Leslie G Biesecker, Robert L Nussbaum, 2018, JAMA.