Heidi L. Rehm

Heidi L. Rehm's AcademicInfluence.com Rankings

Heidi L. Rehm

Philosophy

#7262

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#10450

Historical Rank

Logic

#4317

World Rank

#5591

Historical Rank

philosophy Degrees

Heidi L. Rehm

Biology

#9848

World Rank

#13100

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Genetics

#1018

World Rank

#1116

Historical Rank

biology Degrees

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Philosophy
Biology

Heidi L. Rehm's Degrees

Doctorate Medicine Harvard University

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Heidi L. Rehm's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

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 (2015) (15496)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (2013) (2235)
Guidelines for investigating causality of sequence variants in human disease (2014) (1160)
ClinGen--the Clinical Genome Resource. (2015) (856)
ACMG clinical laboratory standards for next-generation sequencing (2013) (815)
TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells (2004) (707)
Genetic Misdiagnoses and the Potential for Health Disparities. (2016) (513)
GJB2 mutations and degree of hearing loss: a multicenter study. (2005) (479)
Assuring the quality of next-generation sequencing in clinical laboratory practice (2012) (444)
Disease-targeted sequencing: a cornerstone in the clinic (2013) (389)
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. (1998) (381)
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery (2015) (375)
Shared genetic causes of cardiac hypertrophy in children and adults. (2008) (373)
Building the foundation for genomics in precision medicine (2015) (372)
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion (2018) (355)
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) (2016) (353)
Return of genomic results to research participants: the floor, the ceiling, and the choices in between. (2014) (336)
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity (2015) (316)
Actionable exomic incidental findings in 6503 participants: challenges of variant classification (2015) (308)
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014) (306)
A brief history of human disease genetics (2020) (288)
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. (2016) (283)
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases (2017) (275)
Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss (2018) (273)
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing (2014) (260)
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. (2017) (251)
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. (2016) (244)
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss (2014) (232)
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework (2019) (202)
A public resource facilitating clinical use of genomes (2012) (197)
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis (2013) (187)
Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar (2017) (185)
Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. (2013) (185)
Global implementation of genomic medicine: We are not alone (2015) (183)
A federated ecosystem for sharing genomic, clinical data (2016) (177)
Newborn Sequencing in Genomic Medicine and Public Health (2017) (163)
Exploring concordance and discordance for return of incidental findings from clinical sequencing (2012) (163)
Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice. (2018) (162)
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource (2017) (162)
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort (2007) (162)
Genetic testing for dilated cardiomyopathy in clinical practice. (2012) (153)
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence (2011) (149)
Connexin 26 studies in patients with sensorineural hearing loss. (2001) (143)
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. (2016) (143)
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine (2014) (142)
Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) (135)
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2 (2018) (131)
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. (2019) (128)
How many rare diseases are there? (2019) (127)
Vascular Defects and Sensorineural Deafness in a Mouse Model of Norrie Disease (2002) (126)
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. (2012) (120)
New approaches to molecular diagnosis. (2013) (117)
Recommendations for the integration of genomics into clinical practice (2016) (115)
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation (2018) (114)
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. (2018) (112)
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. (2017) (110)
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (2018) (107)
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium (2013) (99)
Using ClinVar as a Resource to Support Variant Interpretation (2016) (99)
The BabySeq project: implementing genomic sequencing in newborns (2018) (98)
Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects (2018) (93)
Communicating new knowledge on previously reported genetic variants (2012) (92)
A systematic approach to the reporting of medically relevant findings from whole genome sequencing (2014) (91)
Evolving health care through personal genomics (2017) (88)
Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. (2009) (85)
A novel custom resequencing array for dilated cardiomyopathy (2010) (83)
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes (2011) (81)
Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle (2015) (78)
Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment (2012) (78)
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. (2011) (77)
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)) (2016) (77)
The GeneInsight suite: a platform to support laboratory and provider use of DNA‐based genetic testing (2011) (76)
Updated recommendation for the benign stand‐alone ACMG/AMP criterion (2018) (76)
Variant interpretation using population databases: Lessons from gnomAD (2021) (76)
Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation: A Common Cause of Hypertrophic Cardiomyopathy (2010) (75)
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. (2010) (73)
Consent Codes: Upholding Standard Data Use Conditions (2016) (71)
Good laboratory practice for clinical next-generation sequencing informatics pipelines (2015) (71)
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. (2019) (70)
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants (2017) (70)
Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy (2018) (67)
A curated gene list for reporting results of newborn genomic sequencing (2017) (66)
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection (2009) (65)
Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar (2019) (65)
Retinal disease course in Usher syndrome 1B due to MYO7A mutations. (2011) (64)
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients (2017) (62)
GA4GH: International policies and standards for data sharing across genomic research and healthcare (2021) (62)
Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines (2019) (62)
ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs (2019) (61)
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data (2015) (61)
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories (2016) (61)
Matchmaker Exchange (2017) (60)
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. (2019) (58)
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans (2016) (56)
Clinical Genome Sequencing (2013) (56)
Harmonizing Clinical Sequencing And Interpretation For The Emerge III Network (2018) (55)
ClinVar Miner: Demonstrating utility of a Web‐based tool for viewing and filtering ClinVar data (2018) (55)
Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study. (2018) (54)
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation (2015) (53)
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays (2010) (53)
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. (2014) (51)
Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications. (2010) (51)
Problems with Using Polygenic Scores to Select Embryos. (2021) (50)
Norrie disease: Extraocular clinical manifestations in 56 patients (2012) (50)
Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations (2018) (48)
GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge (2015) (48)
Comparison of viral levels in individuals with or without symptoms at time of COVID-19 testing among 32,480 residents and staff of nursing homes and assisted living facilities in Massachusetts. (2020) (47)
Use and interpretation of genetic tests in cardiovascular genetics (2010) (47)
All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health. (2015) (45)
Implications of hypertrophic cardiomyopathy transmitted by sperm donation. (2009) (44)
A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing (2019) (42)
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (2019) (42)
Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing (2017) (41)
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach (2018) (41)
A One-Page Summary Report of Genome Sequencing for the Healthy Adult (2015) (41)
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. (2017) (39)
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) (2021) (37)
Targeted Droplet‐Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus (2016) (36)
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. (2018) (35)
MutaDATABASE: a centralized and standardized DNA variation database (2011) (35)
Usability of a novel clinician interface for genetic results (2012) (34)
Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project (2019) (34)
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel (2019) (34)
Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study (2017) (34)
An Overview of Custom Array Sequencing (2009) (33)
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project (2021) (33)
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy (2019) (33)
Audiologic Features of Norrie Disease (2005) (32)
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency (1997) (32)
Creating a data resource: what will it take to build a medical information commons? (2017) (32)
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes (2022) (31)
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project. (2019) (31)
A new era in the interpretation of human genomic variation (2017) (30)
Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. (2018) (30)
Summarizing polygenic risks for complex diseases in a clinical whole-genome report (2014) (29)
Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting (2013) (29)
A genetic approach to the child with sensorineural hearing loss. (2005) (28)
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources (2022) (27)
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic (2020) (27)
Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: Who should be offered GJB2 testing? (2007) (27)
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. (2020) (27)
Mitochondrial DNA variation across 56,434 individuals in gnomAD (2021) (26)
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers (2017) (26)
Variant Interpretation for Dilated Cardiomyopathy (2020) (26)
Frequency of genomic incidental findings among 21,915 eMERGE network participants (2020) (25)
Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. (2019) (25)
Registered access: authorizing data access (2018) (25)
Short Term Costs of Integrating Whole Genome Sequencing into Primary Care and Cardiology Settings: A Pilot Randomized Trial (2018) (24)
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. (2016) (24)
Recommendations for clinical interpretation of variants found in non-coding regions of the genome (2021) (23)
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement (2019) (23)
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants. (2018) (22)
Coordinate synthesis and turnover of heat shock proteins in Borrelia burgdorferi: degradation of DnaK during recovery from heat shock (1996) (22)
Molecular Diagnosis of Hearing Loss (2012) (22)
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (2017) (22)
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar (2018) (20)
ClinGen's GenomeConnect registry enables patient‐centered data sharing (2018) (20)
Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project (2013) (20)
Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes (2021) (20)
Genetics and the Genome Project (2003) (20)
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings. (2017) (19)
matchbox: An open‐source tool for patient matching via the Matchmaker Exchange (2018) (19)
Health Care Infrastructure for Financially Sustainable Clinical Genomics. (2016) (19)
A novel clinician interface to improve clinician access to up-to-date genetic results. (2014) (19)
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 (2013) (18)
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly (2020) (18)
Genetic variation in the Middle East—an opportunity to advance the human genetics field (2020) (18)
Centers for Mendelian Genomics: A decade of facilitating gene discovery (2021) (18)
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines (2021) (18)
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort (2017) (18)
ClinGen advancing genomic data‐sharing standards as a GA4GH driver project (2018) (17)
The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers (2016) (17)
Best practices for the interpretation and reporting of clinical whole genome sequencing (2022) (17)
TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. (2019) (17)
Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting (2018) (17)
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization (2021) (17)
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin. (2018) (17)
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)) (2016) (17)
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients (2017) (16)
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future (2018) (16)
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation (2016) (15)
RHD Zygosity Determination from Whole Genome Sequencing Data (2016) (15)
International federation of genomic medicine databases using GA4GH standards (2021) (14)
From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting. (2020) (13)
Potassium channels and epilepsy: evidence that the epileptogenic toxin, dendrotoxin, binds to potassium channel proteins. (1991) (13)
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience (2018) (13)
CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence? (2016) (13)
Management of Secondary Genomic Findings. (2020) (12)
ClinGen and ClinVar – Enabling Genomics in Precision Medicine (2018) (12)
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes (2021) (12)
Diagnoses of uncertain significance: kidney genetics in the 21st century (2020) (12)
seqr: a web-based analysis and collaboration tool for rare disease genomics (2021) (12)
Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates (2016) (11)
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A (2013) (11)
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. (2020) (11)
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization (2018) (11)
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy (2005) (11)
Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights (2021) (11)
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. (2022) (11)
ClinVar Is a Critical Resource to Advance Variant Interpretation (2017) (11)
“Matching” consent to purpose: The example of the Matchmaker Exchange (2017) (11)
The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy (2005) (11)
Introduction of genomics into prenatal diagnostics (2019) (10)
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel (2018) (10)
Targeted Sequencing Using Affymetrix CustomSeq Arrays (2011) (10)
Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease (2015) (10)
A new age in the genetics of deafness (1999) (10)
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification (2021) (10)
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification (2021) (10)
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program (2021) (9)
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking (2022) (9)
Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders (2020) (9)
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. (2021) (9)
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity (2015) (9)
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes (2022) (9)
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss (2021) (9)
Professional Responsibilities Regarding the Provision, Publication and Dissemination of Patient Phenotypes in the Context of Clinical Genetic and Genomic Testing: Points to Consider. A statement of the American College of Medical Genetics and Genomics (ACMG) (2018) (9)
Information Technology Support for Clinical Genetic Testing within an Academic Medical Center (2016) (9)
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test (2020) (9)
Response to Biesecker and Harrison (2018) (8)
Genomic Considerations for FHIR; eMERGE Implementation Lessons (2021) (8)
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes. (2022) (8)
Time to make rare disease diagnosis accessible to all (2022) (7)
PECONPI: A novel software for uncovering pathogenic copy number variations in non‐syndromic sensorineural hearing loss and other genetically heterogeneous disorders (2013) (7)
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. (2016) (7)
The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation (2021) (7)
Keeping up with the genomes: scaling genomic variant interpretation (2019) (7)
Monogenic and Polygenic Contributions to QTc Prolongation in the Population (2021) (7)
Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variants. (2018) (7)
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats (2021) (7)
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome (2022) (7)
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy (2021) (7)
Recommendations for Interpreting the Loss of Function PVS1 ACMG/AMP Variant Criteria (2018) (6)
Mono- and biallelic variant effects on disease at biobank scale (2023) (6)
Evaluating the impact of in silico predictors on clinical variant classification. (2021) (6)
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report (2018) (6)
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing (2021) (6)
TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling (2021) (6)
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals (2020) (6)
LB-11. Comparison of Viral Loads in Individuals With or Without Symptoms At Time of COVID-19 Testing Among 32,480 Residents and Staff of Nursing Homes and Assisted Living Facilities in Massachusetts (2020) (6)
JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia. (2022) (5)
Molecular Diagnosis of Hearing Loss (2004) (5)
The intersection of genetics and COVID-19 in 2021: preview of the 2021 Rodney Howell Symposium (2021) (5)
Evaluating the impact of in silico predictors on clinical variant classification (2021) (5)
The case for implementing sustainable routine, population-level genomic reanalysis (2019) (5)
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). (2022) (4)
The Ancestral Pace of Variant Reclassification. (2018) (4)
Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting. (2019) (4)
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. (2021) (4)
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry (2021) (4)
Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics (2003) (4)
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022) (4)
seqr: A web‐based analysis and collaboration tool for rare disease genomics (2022) (4)
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes (2021) (4)
Potassium channels and epilepsy (1991) (3)
Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance (2021) (3)
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. (2021) (3)
Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing (2018) (3)
A Framework for Automated Gene Selection in Genomic Applications (2021) (3)
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs (2019) (3)
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing (2018) (3)
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (2019) (3)
Mono- and bi-allelic effects of coding variants on disease in 176,899 Finns (2021) (3)
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes (2021) (3)
An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics (2021) (2)
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014) (2)
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death (2023) (2)
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation (2022) (2)
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project (2021) (2)
Challenges in the Clinical Use of Genome Sequencing (2012) (2)
ERRATUM: Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium (2014) (2)
The Clinical Pharmacogenetics Implementation Consortium (CPIC) Term Standardization for Clinical Pharmacogenetic Test Results: Alleles and Phenotypes (2016) (2)
Cross-sectional assessment of SARS-CoV-2 viral load by symptom status in Massachusetts congregate living facilities (2021) (2)
O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group* (2023) (1)
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches (2020) (1)
The MedSeq and BabySeq studies: integrating genomics into the practice of medicine (2017) (1)
A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants with an Orthogonal Method in Clinical Genetic Testing (2018) (1)
Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project. (2022) (1)
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers (2017) (1)
Heritable Disease and Sperm Donation—Reply (2010) (1)
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project (2022) (1)
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes (2022) (1)
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines (2022) (1)
An N-of-1 Trial of Itacitinib for a Patient with Aplastic Anemia Associated with a Gain-of-Function Variant in STAT1 (2021) (1)
Development and application of a computable genotype model in the GA4GH Variation Representation Specification (2022) (1)
The landscape of tolerated genetic variation in humans and primates (2023) (1)
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms (2023) (1)
Expanding patient data sharing: ClinGen’s partnership with Simons Searchlight to submit patient-provided genetic and health information to ClinVar (2021) (0)
Lessons Learned in the Implementation of Novel IT Infrastructure to Communicate Genetic Variant Updates (2012) (0)
Accessing clinical-grade genomic classification data through the ClinGen Data Platform (2022) (0)
Registered access: authorizing data access (2018) (0)
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future (2018) (0)
Rare penetrant mutations confer severe risk of common diseases (2023) (0)
Problems With Using Polygenic Scores to Select Embryos (2021) (0)
Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing: Genotype-Phenotype Association in Incidental ARVC Genetic Findings (2017) (0)
Publisher Correction: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes (2022) (0)
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization (2018) (0)
A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service (2023) (0)
The case for implementing sustainable routine, population-level genomic reanalysis (2019) (0)
Focus: Precision medicine in nephrology Diagnoses of uncertain significance: kidney genetics in the 21 century (2020) (0)
P645: Creation of a ClinGen standard operating procedure to guide gene- and disease-specific refinements of the ACMG/AMP criteria (2023) (0)
A Novel Clinician Interface to Improve Access to Up-to-date Genetic Results (2013) (0)
Reply to Clarity and claims in variation/mutation databasing (2011) (0)
Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs (2017) (0)
Translating research discoveries into clinical tests. (2010) (0)
Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes (2021) (0)
Best practices for the interpretation and reporting of clinical whole genome sequencing (2022) (0)
The Lifespan of Genetic Testing. (2018) (0)
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (2019) (0)
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing (2021) (0)
Abstract 14629: Rare Variants for Electrocardiographic Traits Identify Arrhythmia Susceptibility Genes (2020) (0)
P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF* (2023) (0)
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study (2018) (0)
Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (2020) (0)
A gene pathogenicity tool ‘GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project (2023) (0)
OP039: Best practices for the interpretation and reporting of clinical genome sequencing (2022) (0)
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial (2018) (0)
P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort (2023) (0)
Launch of the gene curation coalition database (2021) (0)
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program (2022) (0)
Response to Ramos et al. (2022) (0)
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing. (2023) (0)
ClinGen and Genetic Testing. (2015) (0)
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results (2023) (0)
Importance of adopting standardized MANE transcripts in clinical reporting. (2022) (0)
Genetic variation in the Middle East—an opportunity to advance the human genetics field (2020) (0)
More than a fancy exome: unique capabilities of genome sequencing for pediatric rare disease diagnosis (2021) (0)
Correspondence on “The role of clinical response to treatment in determining pathogenicity of genomic variants” by Shen et al. (2020) (0)
OP-JNCI180088 1133..1134 (2018) (0)
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic (2020) (0)
Correspondence on “The role of clinical response to treatment in determining pathogenicity of genomic variants” by Shen et al. (2020) (0)
Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) (0)
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A (2013) (0)
Community efforts to curate the genome: clingen, BRCA challenge and matchmaker exchange (2017) (0)
A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes (2021) (0)
Genetic Sex Validation for Sample Tracking in Clinical Testing (2021) (0)
Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests (2022) (0)
Rapid access to genetic discoveries underlying human disease (2016) (0)
Development of a consent resource for genomic data sharing in the clinical setting (2018) (0)
Cover, Volume 43, Issue 6 (2022) (0)
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions (2023) (0)
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project (2018) (0)
A Framework for Automated Gene Selection in Genomic Screening (2020) (0)
P504: A universal filter enabling high throughput genomic screening (2023) (0)
Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (2020) (0)
Curating clinically relevant transcripts for the interpretation of sequence variants (2018) (0)
OP029: Genetic updates returned by GenomeConnect, the ClinGen patient registry: A pilot study of participant experience (2022) (0)
P114: Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics (2023) (0)
Discordant genotype calls across technology platforms elucidate variants with systematic errors in next-generation sequencing (2022) (0)
The evolving landscape of molecular diagnostic testing (2017) (0)
eP055: The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group (2022) (0)
Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening: Findings from the BabySeq Project (2022) (0)
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs (2019) (0)
Scotopic and Photopic ERG Responses in Pediatric Patients with Usher Syndrome (2014) (0)
3 Cirino at al Comparing Panel and Whole Genome Sequencing in HCM Results Patient Characteristics (2017) (0)
A brief history of human disease genetics (2020) (0)
Molecular characterization of a voltage-dependent potassium channel (1989) (0)
Whole-Genome Sequencing in Primary Care (2017) (0)
Advancing Understanding of Inequities in Rare Disease Genomics (2023) (0)
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy (2019) (0)
Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar (2019) (0)
Scotopic Sensitivity in Pediatric Patients with Usher Syndrome (2012) (0)
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data (2023) (0)
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant (2023) (0)
Creating a data resource: what will it take to build a medical information commons? (2017) (0)
Abstract 1192: The Clinical Genome Resource (ClinGen) somatic cancer clinical domain working group (2022) (0)
Clinical Trials of CNTF for retinitis pigmentosa (2010) (0)
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs (2019) (0)
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (2019) (0)
Glossary for Hereditary Hearing Impairment (2003) (0)
Harmonizing variant classification for return of results in the All of Us Research Program (2021) (0)
Inferring compound heterozygosity from large-scale exome sequencing data (2023) (0)
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants (2017) (0)
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement (2019) (0)
A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists (2023) (0)
Response to Biesecker and Harrison (2018) (0)
Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies (2022) (0)

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University of Nebraska Medical Center
Harvard University
Middlebury College
University of Michigan

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