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List of works by Heidi L. Rehm

"Matching" consent to purpose: The example of the Matchmaker Exchange.

scientific article published on 14 June 2017

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

scientific article published in October 2017

A curated gene list for reporting results of newborn genomic sequencing.

scientific article published on 12 January 2017

A genetic approach to the child with sensorineural hearing loss

scientific article

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

scientific article published in July 2007

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

scientific article published on 07 September 2013

A novel custom resequencing array for dilated cardiomyopathy

scientific article

A public resource facilitating clinical use of genomes

scientific article (publication date: 24 July 2012)

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

scientific article

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

scientific article

ACMG clinical laboratory standards for next-generation sequencing

scientific article

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

scientific article (publication date: July 2013)

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

scientific article

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?

scientific article published in July 2007

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

scientific article published on November 2016

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

scientific article published on November 2015

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

scientific article published on 22 September 2011

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

scientific article published on 20 March 2014

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

scientific article

An overview of custom array sequencing

scientific article published on April 2009

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

scientific article published on 6 November 2013

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

scientific article published on 21 August 2018

Assuring the quality of next-generation sequencing in clinical laboratory practice

scientific article

Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss

scientific article published in January 2010

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

scientific article published on 26 December 2018

Building the foundation for genomics in precision medicine

scientific article published on October 2015

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

scientific article

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

scientific article published in April 2015

Centers for Mendelian Genomics: A decade of facilitating gene discovery

scientific article published on 09 February 2022

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

scientific article published on 12 January 2017

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

article

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

scientific article published on 01 November 2018

ClinGen and ClinVar - Enabling Genomics in Precision Medicine

ClinGen's GenomeConnect registry enables patient-centered data sharing

scientific article published on 01 November 2018

ClinGen--the Clinical Genome Resource

scientific article

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

article by Alex Henrie et al published August 2018 in Human Mutation

Clinical Genome Sequencing

article

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

scientific article

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

article

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

scientific article

Communicating new knowledge on previously reported genetic variants

scientific article published on 05 April 2012

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

scientific article published on 23 August 2014

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

scientific article published on 04 June 2019

Consent Codes: Upholding Standard Data Use Conditions

scientific article

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

scientific article published on 22 September 2017

Development and Validation of a Mass Spectrometry–Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease

article

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

scientific article

Diagnoses of uncertain significance: kidney genetics in the 21st century

scientific article published on 07 April 2020

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations

scientific article

Disease-targeted sequencing: a cornerstone in the clinic ⬇️

scientific article published on March 12, 2013

Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.

scientific article published in July 2003

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

scientific article published on 24 May 2017

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

scientific article published on 23 September 2010

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

scientific article

Evolving health care through personal genomics

scientific article published on 31 January 2017

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

scientific article published on 01 November 2018

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

scientific article published on 15 March 2012

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

scientific article

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

Genetic Misdiagnoses and the Potential for Health Disparities

scientific article

Genetic testing for dilated cardiomyopathy in clinical practice

scientific article published on 15 February 2012

Genetics and the genome project

scientific article

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

article

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project

scientific article

Global implementation of genomic medicine: We are not alone

scientific article

Good laboratory practice for clinical next-generation sequencing informatics pipelines.

scientific article

Guidelines for investigating causality of sequence variants in human disease

scientific article

Harmonizing Clinical Sequencing And Interpretation For The eMERGE III Network

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

scientific article

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations

article

Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation

scientific article published in The Journal of the American Medical Association

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

scientific article

Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.

scientific article published on 20 January 2016

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

scientific article

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

scientific article published on May 2017

Molecular diagnosis of hearing loss

scientific article published in January 2012

Mondo: Unifying diseases for the world, by the world

MutaDATABASE: a centralized and standardized DNA variation database

scientific article published in February 2011

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

scientific article

New approaches to molecular diagnosis

scientific article

Newborn Sequencing in Genomic Medicine and Public Health

scientific article

Norrie disease: Extraocular clinical manifestations in 56 patients

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

scientific article published on 29 July 2013

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

scientific article published on 2 June 2016

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

scientific article published on July 2016

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

scientific article

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

scientific article published on 27 March 2017

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

scientific article

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

scientific article

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

scientific article published on 07 September 2018

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

Registered access: authorizing data access

scientific article published on 2 August 2018

Reply to Clarity and claims in variation/mutation databasing

Research directions in the clinical implementation of pharmacogenomics - An Overview of US programs and projects

scientific article published on 20 February 2018

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

scientific article published on 22 January 2015

Retinal disease course in Usher syndrome 1B due to MYO7A mutations

scientific article published on 7 October 2011

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

scientific article

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

scientific article published on 01 November 2018

Shared genetic causes of cardiac hypertrophy in children and adults

scientific article

Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy

scientific article published on 8 April 2010

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

scientific article published on 21 July 2016

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

scientific article

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

scientific article

TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome

scientific article published on 15 November 2019

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

scientific journal article

Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus

scientific article published on 7 October 2015

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

scientific article published on 06 May 2019

Targeted sequencing using Affymetrix CustomSeq Arrays

scientific article published on April 2011

Temporal bone abnormalities in children with GJB2 mutations

scientific article

The All of Us Research Program: Data quality, utility, and diversity

scientific article published in 2022

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

scientific article published on 27 January 2016

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

scientific article

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

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

scientific article

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

scientific article published on 6 February 2014

The landscape of tolerated genetic variation in humans and primates

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

scientific article (publication date: June 2013)

Translating Research Discoveries Into Clinical Tests ⬇️

scientific article published on July 1, 2010

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

Usability of a novel clinician interface for genetic results

scientific article

Use and interpretation of genetic tests in cardiovascular genetics

scientific article published on October 2010

Using ClinVar as a Resource to Support Variant Interpretation

scientific article

Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

scientific article

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

scientific article

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

scientific article published on 03 October 2018

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