Heidi L. Rehm

Overview

Best Publications

• 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.

  Sue Richards;Nazneen Aziz;Nazneen Aziz;Sherri Bale;David Bick

  34490
  Citations

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

  Robert C. Green;Robert C. Green;Jonathan S. Berg;Wayne W. Grody;Sarah S. Kalia

  2560
  Citations

• Guidelines for investigating causality of sequence variants in human disease

  D G MacArthur;T A Manolio;D P Dimmock;H L Rehm

  1414
  Citations

• ClinGen — The Clinical Genome Resource

  Heidi L. Rehm;Jonathan S. Berg;Lisa D. Brooks;Carlos D. Bustamante

  1227
  Citations

• ACMG clinical laboratory standards for next-generation sequencing.

  Heidi L. Rehm;Sherri J. Bale;Pinar Bayrak-Toydemir;Jonathan S. Berg

  1007
  Citations

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

  David P. Corey;David P. Corey;Jaime Garcia-Añoveros;Jeffrey R. Holt;Kelvin Y. Kwan;Kelvin Y. Kwan

  890
  Citations

• Genetic Misdiagnoses and the Potential for Health Disparities

  Arjun K. Manrai;Birgit H. Funke;Heidi L. Rehm;Morten S. Olesen

  817
  Citations

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

  Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin

  701
  Citations

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

  Ahmad N. Abou Tayoun;Ahmad N. Abou Tayoun;Tina Pesaran;Marina T. DiStefano;Andrea Oza

  605
  Citations

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

  Laura M. Amendola;Gail P. Jarvik;Michael C. Leo;Heather M. McLaughlin

  579
  Citations

• A brief history of human disease genetics.

  Melina Claussnitzer;Melina Claussnitzer;Melina Claussnitzer;Judy H Cho;Rory Collins;Nancy J Cox

  575
  Citations

• Building the foundation for genomics in precision medicine

  Samuel J. Aronson;Heidi L. Rehm

  537
  Citations

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

  Amy S Gargis;Lisa Kalman;Meredith W Berry;David P Bick

  517
  Citations

• The Matchmaker Exchange: a platform for rare disease gene discovery

  Anthony A. Philippakis;Anthony A. Philippakis;Anthony A. Philippakis;Danielle R. Azzariti;Sergi Beltran;Anthony J. Brookes

  510
  Citations

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

  Kelly E. Caudle;Henry M. Dunnenberger;Robert R. Freimuth;Josh F. Peterson

  496
  Citations

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

  Natasha T. Strande;Erin Rooney Riggs;Adam H. Buchanan;Ozge Ceyhan-Birsoy

  485
  Citations

• Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

  Hiroyuki Morita;Heidi L. Rehm;Andres Menesses;Barbara McDonough

  466
  Citations

• Disease-targeted sequencing: a cornerstone in the clinic

  Heidi L. Rehm

  453
  Citations

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

  James D. Eudy;Michael D. Weston;Su Fang Yao;Denise M. Hoover

  453
  Citations

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

  Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  435
  Citations