Publications by authors named "Heidi Rehm"

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Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives.
Eva Martinez, Jillian Serrano, Siwaar Abouhala, Ashana Neale, Grace VanNoy, Heidi L Rehm

Genet Med· December 2025

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Toward Same-Day Genome Sequencing in the Critical Care Setting.
Monica H Wojcik, Katie Larkin, Michelle Cipicchio, Austin Doupnik, Chen Zhao, Heidi L Rehm

N Engl J Med· November 2025

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Heidi L Rehm

Nature· November 2025

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Heidi L Rehm

Genet Med· October 2025

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Mondo: Integrating Disease Terminology Across Communities.
Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack, Kathleen R Mullen, Heidi L Rehm

Genetics· October 2025

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Improved allele frequencies in gnomAD through local ancestry inference.
Pragati Kore, Michael W Wilson, Grace Tiao, Katherine Chao, Philip W Darnowsky, Heidi L Rehm

Nat Commun· October 2025

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Advancing the science of genomic learning healthcare systems.
Teri A Manolio, Renee Rider, Carol J Bult, Rex L Chisholm, Patricia A Deverka, Heidi L Rehm

Learn Health Syst· October 2025

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Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.
Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, Julia K Goodrich, Michael W Wilson, Heidi L Rehm

Nat Commun· October 2025

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Defining a tandem repeat catalog and variation clusters for genome-wide analyses.
Ben Weisburd, Egor Dolzhenko, Mark F Bennett, Matt C Danzi, Isaac R L Xu, Heidi L Rehm

bioRxiv· October 2025

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Predicting expression-altering promoter mutations with deep learning.
Kishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, Yuchuan Wang, Terena James, Heidi L Rehm

Science· August 2025

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Improving the FAIRness and Sustainability of the NHGRI Resources Ecosystem.
Larry Babb, Carol Bult, Vincent J Carey, Robert J Carroll, Benjamin C Hitz, Heidi L Rehm

ArXiv· August 2025

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, Sushma Chaluvadi, Vijay Ganesh, Heidi L Rehm

HGG Adv· July 2025

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Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, Steven M Harrison, Matthew S Lebo, Heidi L Rehm

Genet Med· June 2025

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Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice.
Zaneta Matuszek, Mandana Arbab, Maheswaran Kesavan, Alvin Hsu, Jennie C L Roy, Heidi L Rehm

Nat Genet· June 2025

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Improved Allele Frequencies in gnomAD through Local Ancestry Inference.
Pragati Kore, Michael W Wilson, Grace Tiao, Katherine Chao, Philip W Darnowsky, Heidi L Rehm

bioRxiv· June 2025

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Heidi L Rehm

Genet Med· May 2025

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Significant underascertainment in Huntington's disease.
Sujin Lee, Ben Weisburd, Jiwoo Lee, Kevin Correia, Sophia Zeng, Heidi L Rehm

Brain Commun· May 2025

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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Matthew J Welland, K D Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, Heidi L Rehm

medRxiv· May 2025

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Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.
Elizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, Jialan Ma, Grace E VanNoy, Heidi L Rehm

HGG Adv· April 2025

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Building Biobanks to Drive Biomedical Research and Genomically Informed Care.
Heidi L Rehm

JAMA Netw Open· March 2025

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STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.
Laurel Hiatt, Ben Weisburd, Egor Dolzhenko, Vincent Rubinetti, Akshay K Avvaru, Heidi L Rehm

Genome Med· March 2025

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Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource.
Alice B Popejoy, Deborah I Ritter, Danielle Azzariti, Jonathan S Berg, Joanna E Bulkley, Heidi L Rehm

Am J Hum Genet· February 2025

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Overcoming Barriers to Genomic Medicine Implementation.
Heidi L Rehm

Clin Chem· January 2025

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Sarah L Stenton, Kristen Laricchia, Nicole J Lake, Sushma Chaluvadi, Vijay Ganesh, Heidi L Rehm

medRxiv· December 2024

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GREGoR: Accelerating Genomics for Rare Diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Heidi L Rehm

ArXiv· December 2024

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