Heidi L. Rehm

72.0k total citations · 10 hit papers
186 papers, 31.4k citations indexed

About

Heidi L. Rehm is a scholar working on Genetics, Molecular Biology and Cancer Research. According to data from OpenAlex, Heidi L. Rehm has authored 186 papers receiving a total of 31.4k indexed citations (citations by other indexed papers that have themselves been cited), including 116 papers in Genetics, 69 papers in Molecular Biology and 45 papers in Cancer Research. Recurrent topics in Heidi L. Rehm's work include Genomics and Rare Diseases (104 papers), Cancer Genomics and Diagnostics (45 papers) and Genomic variations and chromosomal abnormalities (33 papers). Heidi L. Rehm is often cited by papers focused on Genomics and Rare Diseases (104 papers), Cancer Genomics and Diagnostics (45 papers) and Genomic variations and chromosomal abnormalities (33 papers). Heidi L. Rehm collaborates with scholars based in United States, United Kingdom and Australia. Heidi L. Rehm's co-authors include Wayne W. Grody, Sherri J. Bale, Madhuri Hegde, Elaine Lyon, Soma Das, David Bick, Karl V. Voelkerding, Julie M. Gastier‐Foster, Sue Richards and Nazneen Aziz and has published in prestigious journals such as Nature, Science and New England Journal of Medicine.

In The Last Decade

Heidi L. Rehm

177 papers receiving 30.9k citations

Hit Papers

5 papers align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

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 18.9k citations Sue Richards, Nazneen Aziz et al. Genetics in Medicine profile →
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

2013 1.6k citations Robert C. Green, Jonathan S. Berg et al. Genetics in Medicine profile →
ClinGen — The Clinical Genome Resource

2015 776 citations Heidi L. Rehm, Jonathan S. Berg et al. profile →
ACMG clinical laboratory standards for next-generation sequencing

2013 631 citations Heidi L. Rehm, Sherri J. Bale et al. Genetics in Medicine profile →
TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells

2004 550 citations Heidi L. Rehm et al. profile →
Genetic Misdiagnoses and the Potential for Health Disparities

2016 461 citations Heidi L. Rehm, Morten S. Olesen et al. profile →
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2018 433 citations Tina Pesaran, Marina T. DiStefano et al. Human Mutation profile →
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)

2016 354 citations Robert R. Freimuth, Heidi L. Rehm et al. Genetics in Medicine profile →
A brief history of human disease genetics

2020 349 citations Daniel G. MacArthur, Sharon E. Plon et al. profile →
How many rare diseases are there?

2019 279 citations Melissa Haendel, Heidi L. Rehm et al. profile →

Peers

Countries citing papers authored by Heidi L. Rehm

Since Specialization

Citations

This map shows the geographic impact of Heidi L. Rehm's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Heidi L. Rehm with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Heidi L. Rehm more than expected).

Fields of papers citing papers by Heidi L. Rehm

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Heidi L. Rehm. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Heidi L. Rehm. The network helps show where Heidi L. Rehm may publish in the future.

Co-authorship network of co-authors of Heidi L. Rehm

This figure shows the co-authorship network connecting the top 25 collaborators of Heidi L. Rehm. A scholar is included among the top collaborators of Heidi L. Rehm based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Heidi L. Rehm. Heidi L. Rehm is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Improved allele frequencies in gnomAD through local ancestry inference 2025 ·Nature Communications ·(unknown), Michael W. Wilson, Grace Tiao, Katherine R. Chao, (unknown), Nicholas A. Watts, (unknown), Samantha Baxter, Heidi L. Rehm, Mark J. Daly, Konrad J. Karczewski, Elizabeth G. Atkinson	1
2	Standardizing variant naming in literature with VariantValidator to increase diagnostic rates 2024 ·Nature Genetics ·Peter Freeman, (unknown), Ivo F.A.C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela Davies, Johan T. den Dunnen, (unknown), Raymond Dalgleish	2
3	Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation 2024 ·Annals of Clinical and Translational Neurology ·(unknown), Kevin J. Felice, Per Harald Jonson, J. Sarparanta, (unknown), Inès Harzallah, Renaud Touraine, Lynn Pais, Christina Austin‐Tse, Vijay Ganesh, (unknown), Heidi L. Rehm, Michael K. Hehir, S. H. Subramony, Qian Wu, Bjarne Udd, Marco Savarese	1
4	Implementation of a dyadic nomenclature for monogenic diseases 2024 ·The American Journal of Human Genetics ·Courtney Thaxton, Leslie G. Biesecker, Marina T. DiStefano, Melissa Haendel, Ada Hamosh, (unknown), Sharon E. Plon, Heidi L. Rehm, Jonathan S. Berg	6
5	Genetic testing in early-onset atrial fibrillation 2024 ·European Heart Journal ·Shinwan Kany, Sean J. Jurgens, Joel Rämö, Ingrid E. Christophersen, Michiel Rienstra, Mina K. Chung, Morten S. Olesen, Michael J. Ackerman, Elizabeth M. McNally, Christopher Semsarian, Renate B. Schnabel, Arthur A.M. Wilde, Emelia J. Benjamin, Heidi L. Rehm, Paulus Kirchhof, Connie R. Bezzina, Dan M. Roden, M. Benjamin Shoemaker, Patrick T. Ellinor	8
6	Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data 2023 ·The American Journal of Human Genetics ·Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood, Rachel G. Son, Nicholas A. Watts, Konrad J. Karczewski, Steven M. Harrison, Daniel G. MacArthur, Heidi L. Rehm, Anne O’Donnell‐Luria	7
7	Multilevel barriers and facilitators to widespread use of preconception carrier screening in the United States 2023 ·Genetics in Medicine ·Leland E. Hull, (unknown), Anjali J. Kaimal, Karen Sepucha, Heidi L. Rehm, Jennifer S. Haas	5
8	A pooled electronic consultation program to improve access to genetics specialists 2023 ·SHILAP Revista de lepidopterología ·(unknown), (unknown), Daniel C. Chung, (unknown), Douglas S. Micalizzi, Kristen M. Shannon, David A. Sweetser, (unknown), Heidi L. Rehm, Leland E. Hull	1
9	Tracking genetic variants in the biomedical literature using LitVar 2.0 2023 ·Nature Genetics ·Alexis Allot, Chih-Hsuan Wei, Lon Phan, (unknown), Melissa Landrum, Heidi L. Rehm, Zhiyong Lu	13
10	Discordant calls across genotype discovery approaches elucidate variants with systematic errors 2023 ·Genome Research ·Elizabeth G. Atkinson, Mykyta Artomov, Alexander A. Loboda, Heidi L. Rehm, Daniel G. MacArthur, Konrad J. Karczewski, Benjamin M. Neale, Mark J. Daly	3
11	Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation 2022 ·Cell Genomics ·Courtney Thaxton, Jennifer Goldstein, Marina T. DiStefano, Kathleen Wallace, P. Dane Witmer, Melissa Haendel, Ada Hamosh, Heidi L. Rehm, Jonathan S. Berg	17
12	Mitochondrial DNA variation across 56,434 individuals in gnomAD 2022 ·Genome Research ·Kristen M. Laricchia, Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura D. Gauthier, David Benjamin, Eric Banks, José Soto, Kiran Garimella, (unknown), Heidi L. Rehm, Daniel G. MacArthur, Grace Tiao, Monkol Lek, Vamsi K. Mootha, Sarah E. Calvo	53
13	International federation of genomic medicine databases using GA4GH standards 2021 ·Cell Genomics ·Adrian Thorogood, Heidi L. Rehm, Peter Goodhand, Angela Page, Yann Joly, Michael Baudis, Jordi Rambla, Arcadi Navarro, Tommi Nyrönen, Mikael Lindén, Edward S. Dove, Marc Fiume, Michael Brudno, Melissa Cline, Ewan Birney	22
14	Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance 2021 ·Genetics in Medicine ·(unknown), (unknown), Heidi L. Rehm, Maren T. Scheuner, Catherine Hajek, Robert C. Green, Kurt D. Christensen	5
15	Problems With Using Polygenic Scores to Select Embryos 2021 ·Obstetrical & Gynecological Survey ·Patrick Turley, Michelle N. Meyer, Nancy Wang, David Cesarini, Evelynn M. Hammonds, Alicia R. Martin, Benjamin M. Neale, Heidi L. Rehm, Louise Wilkins‐Haug, Daniel J. Benjamin, Steven E. Hyman, David Laibson, Peter M. Visscher	2
16	Diagnoses of uncertain significance: kidney genetics in the 21st century 2020 ·Nature Reviews Nephrology ·Daniel P. Gale, Andrew J. Mallett, Chirag Patel, Tam P. Sneddon, Heidi L. Rehm, Matthew G. Sampson, Detlef Böckenhauer	11
17	ClinGen advancing genomic data‐sharing standards as a GA4GH driver project 2018 ·Human Mutation ·Lena Dolman, Angela Page, Lawrence Babb, Robert R. Freimuth, Harindra Arachchi, Chris Bizon, Matthew Brush, Marc Fiume, Melissa Haendel, David Hansen, Aleksandar Milosavljevic, Ronak Y. Patel, (unknown), Andrew Yates, Heidi L. Rehm	11
18	Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar 2017 ·Genetics in Medicine ·Steven M. Harrison, Jill S. Dolinsky, Amy E. Knight Johnson, Tina Pesaran, Danielle R. Azzariti, Sherri J. Bale, Elizabeth Chao, Soma Das, Lisa M. Vincent, Heidi L. Rehm	145
19	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 breakdown → 2015 ·Genetics in Medicine ·Sue Richards, Nazneen Aziz, Sherri J. Bale, David Bick, Soma Das, Julie M. Gastier‐Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl V. Voelkerding, Heidi L. Rehm	18892
20	A novel clinician interface to improve clinician access to up-to-date genetic results 2013 ·Journal of the American Medical Informatics Association ·Allison R. Wilcox, Pamela M. Neri, Lynn A. Volk, Lisa P. Newmark, Eugene Clark, Lawrence Babb, Matthew Varugheese, Samuel Aronson, Heidi L. Rehm, David W. Bates, (unknown), Samantha Baxter	13

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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