D-Index & Metrics Best Publications

D-Index & Metrics

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Biology and Biochemistry D-index 73 Citations 44,531 190 World Ranking 2520 National Ranking 1341

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • Genetics

Heidi L. Rehm focuses on Bioinformatics, Genetic testing, Genomics, Exome and Genetics. Her Bioinformatics research is multidisciplinary, incorporating elements of Medical genetics, Disease, Rare disease, Penetrance and Computational biology. The study incorporates disciplines such as Return of results, Concordance, Molecular pathology and Family medicine in addition to Medical genetics.

Her Genetic testing research includes elements of Gerontology, MEDLINE, Hypertrophic cardiomyopathy, Sequence and Data science. As part of her studies on Genomics, she often connects relevant areas like Medical education. Her Exome research also works with subjects such as

  • Human genome that intertwine with fields like Exome sequencing,
  • DNA sequencing that connect with fields like Biotechnology.

Her most cited work include:

  • 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. (9049 citations)
  • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (1720 citations)
  • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (1720 citations)

What are the main themes of her work throughout her whole career to date?

Heidi L. Rehm mostly deals with Genetics, Computational biology, Genetic testing, Genomics and Bioinformatics. In her study, which falls under the umbrella issue of Genetics, Genetic heterogeneity and Compound heterozygosity is strongly linked to Hearing loss. Her research integrates issues of Genome, Human genome, Disease, Human genetics and DNA sequencing in her study of Computational biology.

Heidi L. Rehm has included themes like Genetic counseling and Hypertrophic cardiomyopathy in her Genetic testing study. Her Genomics study incorporates themes from Data science, Identification, MEDLINE and Medical genetics. Her Bioinformatics research integrates issues from Return of results, Exome and Medical education.

She most often published in these fields:

  • Genetics (38.40%)
  • Computational biology (42.93%)
  • Genetic testing (34.67%)

What were the highlights of her more recent work (between 2019-2021)?

  • Exome sequencing (22.67%)
  • Data science (19.47%)
  • Computational biology (42.93%)

In recent papers she was focusing on the following fields of study:

Her primary areas of study are Exome sequencing, Data science, Computational biology, Genetics and Genomics. Heidi L. Rehm interconnects Proband, Microarray, Exon, Pediatrics and DNA sequencing in the investigation of issues within Exome sequencing. Her research on Computational biology also deals with topics like

  • Genome which intersects with area such as Leiden Open Variation Database and Dna variants,
  • Rare disease that intertwine with fields like Systems biology and Exome.

Her studies deal with areas such as Susceptibility gene, Medical genetics and Identification as well as Genomics. Her Medical genetics research includes themes of Gene panel and Likely benign. Heidi L. Rehm has researched Phenotype in several fields, including Sensorineural hearing loss and Genetic testing.

Between 2019 and 2021, her most popular works were:

  • A brief history of human disease genetics. (99 citations)
  • 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. (26 citations)
  • How many rare diseases are there (22 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Her primary areas of investigation include Intensive care medicine, Genomics, Genetic variation, Computational biology and Medical diagnosis. Her work deals with themes such as Genomic information, Identification, Representation, Molecular variation and Data science, which intersect with Genomics. Her Genetic variation study combines topics in areas such as Diagnostic accuracy, Precision medicine and MEDLINE.

The various areas that she examines in her Precision medicine study include Molecular pathology, Proband, MYH7 and Medical genetics. Her biological study spans a wide range of topics, including Internal medicine and Genetic testing. Her research in Computational biology intersects with topics in Leiden Open Variation Database, Dna variants, Genome and Human genetics.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
Genetics in Medicine (2015)

15000 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.
Genetics in Medicine (2013)

2151 Citations

Guidelines for investigating causality of sequence variants in human disease

D G MacArthur;T A Manolio;D P Dimmock;H L Rehm.
Nature (2014)

1039 Citations

ACMG clinical laboratory standards for next-generation sequencing.

Heidi L. Rehm;Sherri J. Bale;Pinar Bayrak-Toydemir;Jonathan S. Berg.
Genetics in Medicine (2013)

817 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.
Nature (2004)

792 Citations

ClinGen — The Clinical Genome Resource

Heidi L. Rehm;Jonathan S. Berg;Lisa D. Brooks;Carlos D. Bustamante.
The New England Journal of Medicine (2015)

636 Citations

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

Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin.
American Journal of Human Genetics (2005)

569 Citations

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

Amy S Gargis;Lisa Kalman;Meredith W Berry;David P Bick.
Nature Biotechnology (2012)

446 Citations

Disease-targeted sequencing: a cornerstone in the clinic

Heidi L. Rehm;Heidi L. Rehm.
Nature Reviews Genetics (2013)

405 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.
American Journal of Human Genetics (2016)

398 Citations

If you think any of the details on this page are incorrect, let us know.

Contact us

Best Scientists Citing Heidi L. Rehm

Christopher Semsarian

Christopher Semsarian

University of Sydney

Publications: 115

Robert C. Green

Robert C. Green

Brigham and Women's Hospital

Publications: 90

Christine E. Seidman

Christine E. Seidman

Harvard University

Publications: 87

Wendy K. Chung

Wendy K. Chung

Columbia University

Publications: 87

Michael J. Ackerman

Michael J. Ackerman

Mayo Clinic

Publications: 76

Richard J.H. Smith

Richard J.H. Smith

University of Iowa

Publications: 73

Euan A. Ashley

Euan A. Ashley

Stanford University

Publications: 70

James R. Lupski

James R. Lupski

Baylor College of Medicine

Publications: 69

Fowzan S. Alkuraya

Fowzan S. Alkuraya

Alfaisal University

Publications: 62

Daniel G. MacArthur

Daniel G. MacArthur

Broad Institute

Publications: 62

Stephen W. Scherer

Stephen W. Scherer

University of Toronto

Publications: 62

Richard A. Gibbs

Richard A. Gibbs

Baylor College of Medicine

Publications: 61

Christine M. Eng

Christine M. Eng

Baylor University

Publications: 60

Jonathan S. Berg

Jonathan S. Berg

University of North Carolina at Chapel Hill

Publications: 60

Eric Boerwinkle

Eric Boerwinkle

The University of Texas Health Science Center at Houston

Publications: 58

Gail P. Jarvik

Gail P. Jarvik

University of Washington

Publications: 55

Trending Scientists

Patrick Bouthemy

Patrick Bouthemy

French Institute for Research in Computer Science and Automation - INRIA

Robert Weigel

Robert Weigel

University of Erlangen-Nuremberg

Fernando L. Mantelatto

Fernando L. Mantelatto

Universidade de São Paulo

Tomas Lindahl

Tomas Lindahl

The Francis Crick Institute

Natalie C. J. Strynadka

Natalie C. J. Strynadka

University of British Columbia

Philip J. S. Stork

Philip J. S. Stork

Oregon Health & Science University

Charles E. Samuel

Charles E. Samuel

University of California, Santa Barbara

Thierry Candresse

Thierry Candresse

University of Bordeaux

Hui Zhong

Hui Zhong

University of California, Los Angeles

Hong Jin

Hong Jin

AstraZeneca (United Kingdom)

Peter W. Halligan

Peter W. Halligan

Cardiff University

Shelley Channon

Shelley Channon

University College London

Daniel H. Solomon

Daniel H. Solomon

Brigham and Women's Hospital

Sandrine Andrieu

Sandrine Andrieu

Federal University of Toulouse Midi-Pyrénées

Peter Herscovitch

Peter Herscovitch

National Institutes of Health

Guang Guo

Guang Guo

University of North Carolina at Chapel Hill

Something went wrong. Please try again later.