Heidi L Rehm


Ontology type: schema:Person     


Person Info

NAME

Heidi L

SURNAME

Rehm

Publications in SciGraph latest 50 shown

  • 2019-04 Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future in GENETICS IN MEDICINE
  • 2019-04 Insights into genetics, human biology and disease gleaned from family based genomic studies in GENETICS IN MEDICINE
  • 2019-04 Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization in GENETICS IN MEDICINE
  • 2019-01-23 A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement in GENETICS IN MEDICINE
  • 2019-01-22 Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study in GENETICS IN MEDICINE
  • 2019-01 Development of a consent resource for genomic data sharing in the clinical setting in GENETICS IN MEDICINE
  • 2018-12 Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial in GENETICS IN MEDICINE
  • 2018-12 Registered access: authorizing data access in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-12 Response to Biesecker and Harrison in GENETICS IN MEDICINE
  • 2018-12 The BabySeq project: implementing genomic sequencing in newborns in BMC PEDIATRICS
  • 2018-10-05 Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study in GENETICS IN MEDICINE
  • 2018-08 Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers in GENETICS IN MEDICINE
  • 2018-05 Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients in GENETICS IN MEDICINE
  • 2018-03 Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs in GENETICS IN MEDICINE
  • 2018-02 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) in GENETICS IN MEDICINE
  • 2017-12 ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants in GENOME MEDICINE
  • 2017-11 Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing in GENETICS IN MEDICINE
  • 2017-10 Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar in GENETICS IN MEDICINE
  • 2017-10 A new era in the interpretation of human genomic variation in GENETICS IN MEDICINE
  • 2017-07 A curated gene list for reporting results of newborn genomic sequencing in GENETICS IN MEDICINE
  • 2017-05 Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation in GENETICS IN MEDICINE
  • 2017-05 A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories in GENETICS IN MEDICINE
  • 2017-05 CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing in GENETICS IN MEDICINE
  • 2017-04 Evolving health care through personal genomics in NATURE REVIEWS GENETICS
  • 2017-02 Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC) in GENETICS IN MEDICINE
  • 2016-11 Recommendations for the integration of genomics into clinical practice in GENETICS IN MEDICINE
  • 2016-07 VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data in GENETICS IN MEDICINE
  • 2016-06 Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation in GENETICS IN MEDICINE
  • 2015-11 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity in GENETICS IN MEDICINE
  • 2015-10 Building the foundation for genomics in precision medicine in NATURE
  • 2015-07 Good laboratory practice for clinical next-generation sequencing informatics pipelines in NATURE BIOTECHNOLOGY
  • 2015-07 Summarizing polygenic risks for complex diseases in a clinical whole-genome report in GENETICS IN MEDICINE
  • 2015-05 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 in GENETICS IN MEDICINE
  • 2015-04 CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity in GENETICS IN MEDICINE
  • 2014-12 The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine in TRIALS
  • 2014-12 A systematic approach to the reporting of medically relevant findings from whole genome sequencing in BMC MEDICAL GENETICS
  • 2014-08 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing in GENETICS IN MEDICINE
  • 2014-04 American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss in GENETICS IN MEDICINE
  • 2014-04 Guidelines for investigating causality of sequence variants in human disease in NATURE
  • 2014-03 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge in GENOME BIOLOGY
  • 2014-01 Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A in MOLECULAR BIOLOGY REPORTS
  • 2013-11 Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium in GENETICS IN MEDICINE
  • 2013-09 ACMG clinical laboratory standards for next-generation sequencing in GENETICS IN MEDICINE
  • 2013-07 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing in GENETICS IN MEDICINE
  • 2013-04 Disease-targeted sequencing: a cornerstone in the clinic in NATURE REVIEWS GENETICS
  • 2012-11 Assuring the quality of next-generation sequencing in clinical laboratory practice in NATURE BIOTECHNOLOGY
  • 2012-08 Communicating new knowledge on previously reported genetic variants in GENETICS IN MEDICINE
  • 2012-08 In This Issue in GENETICS IN MEDICINE
  • 2012-04 Exploring concordance and discordance for return of incidental findings from clinical sequencing in GENETICS IN MEDICINE
  • 2011-09 Reply to Clarity and claims in variation/mutation databasing in NATURE BIOTECHNOLOGY
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