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Heidi L. Rehm

massachusetts general hospital

100H-index
522Paper Count
7.2WCitation Count
Published Papers 236
Publication Date
Examining gaps in institutional policies for clinical genomic data sharing: A cross-jurisdictional study
err2026-08-17
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PREAI
errZhaoping Ju; Yunhe Xue; Abby Rud; Juliann M. Savatt; Jordan Lerner-Ellis; Heidi L. Rehm; Yann Joly; Diya Uberoi
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Harmonizing standards and resources for the medical genome
errNature
IF48.5
err2026-07-01
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PREAI
errEuan A. Ashley; Ash A. Alizadeh; Hanae Armitage; Ami S. Bhatt; Yair Blumenfeld; Andrew Carroll; R. Martin Chavez; Petros Giannikopoulos; Megan E. Grove; Meghan C. Halley; Kiran Khush; Niall J. Lennon; Samantha Maragh; Alexander Marson; Benedict Paten; Adam M. Phillippy; Matthew H. Porteus; Heidi L. Rehm; Bradley R. Ringeisen; Julia Salzman; Valerie A. Schneider; Fritz J. Sedlazeck; Lars M. Steinmetz; Fyodor D. Urnov; Stacia K. Wyman; Justin M. Zook; Lloyd B. Minor; Jennifer A. Doudna
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Automated reanalysis of genomic data for rare disease diagnostics at scale
err2026-06-24
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errOAAI
errMatthew J. Welland; K. D. Ahlquist; Paul De Fazio; Christina Austin-Tse; Lynn Pais; Laura Wedd; Samantha Bryen; Rocio Rius; Michael Franklin; Caitlin Morrison; Giles Hall; Laura Gauthier; Alex Bloemendal; David I. Francis; Andrew J. Mallett; Amali Mallawaarachchi; Paul J. Lockhart; Richard Leventer; Ingrid E. Scheffer; Katherine B. Howell; Karin S. Kassahn; Hamish S. Scott; Julie McGaughran; John Christodoulou; David R. Thorburn; Bryony A. Thompson; Chirag V. Patel; Greg Smith; Anne O’Donnell-Luria; Simon Sadedin; Heidi L. Rehm; Sebastian Lunke; Jeremiah Wander; Kaitlin E. Samocha; Cas Simons; Daniel G. MacArthur; Zornitza Stark
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The Evidence Aggregator: AI reasoning applied to rare disease diagnostics
err2026-05-27
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PREAI
errHope Twede; Lynn Pais; Samantha Bryen; Emily O’Heir; Greg Smith; Ron Paulsen; Christina A. Austin-Tse; Alex Bloemendal; Cas Simons; Amanda K. Hall; Scott Saponas; Miah Wander; Daniel G. MacArthur; Heidi L. Rehm; Ashley Mae Conard
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ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform
err2026-05-01
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errOAAI
errDeborah I. Ritter; Mark Mandell; Christine Preston; Marina DiStefano; Sahia M. Bryant; Nadia Carstens; Rolanda S. Julius; Aimé Lumaka; Madhuri Hedge; Joanne Ngeow; Joannella Morales; Matt W. Wright; Heidi L. Rehm; Sharon E. Plon
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Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives
err2026-01-01
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errOAAI
errMartinez, Eva; Serrano, Jillian; Abouhala, Siwaar; Neale, Ashana; VanNoy, Grace; Rehm, Heidi L.; O'Leary, Melanie; O'Donnell-Luria, Anne; Wojcik, Monica H.
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AI-Enhanced Sensemaking: Exploring the Design of a Generative AI-Based Assistant to Support Genetic Professionals
err2025-12-10
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PREAI
errAngela Mastrianni; Hope Twede; Aleksandra Sarcevic; Jeremiah Wander; Christina Austin- Tse; Scott Saponas; Heidi Rehm; Ashley Mae Conard; Amanda K. Hall
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Improved allele frequencies in gnomAD through local ancestry inference
err2025-10-06
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errOAAI
errPragati Kore; Michael W. Wilson; Grace Tiao; Katherine Chao; Philip W. Darnowsky; Nicholas A. Watts; Jessica Honorato Mauer; Samantha M. Baxter; Heidi L. Rehm; Mark J. Daly; Konrad J. Karczewski; Elizabeth G. Atkinson
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Toward Same-Day Genome Sequencing in the Critical Care Setting
err2025-10-01
err1
PREAI
errWojcik, Monica H.; Larkin, Katie; Cipicchio, Michelle; Doupnik, Austin; Zhao, Chen; Cech, Cynthia; Lopez, Douglas; Chandrasekar, Jagadeeswaran; Leadbetter, Joanne; Mannion, John; Berg, Kendall; Golkaram, Mahdi; Osentowski, Mckenna; Freer, Megan; Lehmann, Taylor; Lee, Won-Mean; Ormbrek, Emily; Prindle, Marc J.; Nabavi, Melud; Chaturvedi, Amal; Seberino, Chuck; Baker, Daniel N.; Williams, Cara; Toledo, Diana; Malolepsza, Edyta; Fleharty, Mark; Oza, Andrea; Low, Sophie; Beggs, Alan H.; Genetti, Casie A.; Strickland, Gwendolyn; Anderson, Katherine N.; Chung, Wendy K.; Rehm, Heidi L.; Hofherr, Sean; Kokoris, Mark; Lennon, Niall
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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
err2025-09-07
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PREAI
errKezang C. Tshering; Marina T. DiStefano; Andrea M. Oza; Pamela Ajuyah; Ryan Webb; Enyonam Edoh; Ellie Broeren; Julie Ratliff; Vanessa Gitau; Kelley Paris; Amal Aburyyan; John Alexander; Victoria Albano; Donglin Bai; Kevin T.A. Booth; Paula I. Buonfiglio; Cherine Charfeddine; Viviana Dalamón; Ignacio del Castillo; Miguel Angel Moreno-Pelayo; Hatice Duzkale; Ben Dorshorst; Rabia Faridi; Margaret Kenna; Morag A. Lewis; Minjie Luo; Yu Lu; Rahma Mkaouar; Tatsuo Matsunaga; Kiyomitsu Nara; Arti Pandya; Shelby Redfield; Isabelle Roux; Lisa A. Schimmenti; Isabelle Schrauwen; Sherin Shaaban; Jun Shen; Barbara Vona; Richard J. Smith; Heidi L. Rehm; Hela Azaiez; Ahmad N. Abou Tayoun; Sami S. Amr
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Advancing the science of genomic learning healthcare systems
err2025-07-23
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errOAAI
errTeri A. Manolio; Renee Rider; Carol J. Bult; Rex L. Chisholm; Patricia A. Deverka; Geoffrey S. Ginsburg; Eric D. Green; Gail P. Jarvik; George A. Mensah; Jahnavi Narula; Erin M. Ramos; Mary V. Relling; Dan M. Roden; Robb Rowley; Noura S. Abul-Husn; Adam H. Buchanan; Christopher G. Chute; Guilherme Del Fiol; Gai Elhanan; Susanne B. Haga; Rizwan Hamid; Carol R. Horowitz; Peter J. Hulick; Cynthia A. James; Janina M. Jeff; Bruce Korf; Latrice Landry; Deven McGraw; Howard L. McLeod; Nancy J. Mendelsohn; Travis Osterman; Casey Overby Taylor; Daryl Pritchard; Heidi L. Rehm; Krystal S. Tsosie; Jason L. Vassy; Karriem Watson; Ken Wiley Jr; Marc S. Williams
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Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
err2025-06-01
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PREAI
errBennett, Gwendolyn; Karbassi, Izabela; Chen, Wenjie; Harrison, Steven M.; Lebo, Matthew S.; Meng, Linyan; Nagan, Narasimhan; Rigobello, Robert; Rehm, Heidi L.
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Predicting expression-altering promoter mutations with deep learning
errScience
IF45.8
err2025-05-29
err0
PREAI
errKishore Jaganathan; Nicole Ersaro; Gherman Novakovsky; Yuchuan Wang; Terena James; Jeremy Schwartzentruber; Petko Fiziev; Irfahan Kassam; Fan Cao; Johann Hawe; Henry Cavanagh; Ashley Lim; Grace Png; Jeremy McRae; Abhimanyu Banerjee; Arvind Kumar; Jacob Ulirsch; Yan Zhang; Francois Aguet; Pierrick Wainschtein; Laksshman Sundaram; Adriana Salcedo; Sofia Kyriazopoulou Panagiotopoulou; Delasa Aghamirzaie; Evin Padhi; Ziming Weng; Shan Dong; Damian Smedley; Mark Caulfield; Anne O’Donnell-Luria; Heidi L. Rehm; Stephan J. Sanders; Anshul Kundaje; Stephen B. Montgomery; Mark T. Ross; Kyle Kai-How Farh
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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
err2025-05-26
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errOAAI
errMatuszek, Zaneta; Arbab, Mandana; Kesavan, Maheswaran; Hsu, Alvin; Roy, Jennie C. L.; Zhao, Jing; Yu, Tian; Weisburd, Ben; Newby, Gregory A.; Doherty, Neil J.; Wu, Muzhou; Shibata, Shota; Cristian, Ana; Tao, Y. Allen; Fearnley, Liam G.; Bahlo, Melanie; Rehm, Heidi L.; Xie, Jun; Gao, Guangping; Mouro Pinto, Ricardo; Liu, David R.
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STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
err2025-03-26
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errOAAI
errHiatt, Laurel; Weisburd, Ben; Dolzhenko, Egor; Rubinetti, Vincent; Avvaru, Akshay K.; Vannoy, Grace E.; Kurtas, Nehir Edibe; Rehm, Heidi L.; Quinlan, Aaron R.
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Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL
err2025-02-01
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errOAAI
errCarbonell, Elizabeth; Stenton, Sarah L.; Ganesh, Vijay S.; Ma, Jialan; Vannoy, Grace E.; Pais, Lynn; Gaitanis, John N.; O'Leary, Melanie C.; Rehm, Heidi L.; O'Donnell-Luria, Anne
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Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource
err2025-02-01
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PREAI
errPopejoy, Alice B.; Ritter, Deborah I.; Azzariti, Danielle; Berg, Jonathan S.; Bulkley, Joanna E.; Cho, Mildred; Gonzaga-Jauregui, Claudia; Klein, Teri E.; Martschenko, Daphne O.; Oni-Orisan, Akinyemi; Ramos, Erin M.; Rehm, Heidi L.; Riggs, Erin R.; Wright, Matthew W.; Yudell, Michael; Plon, Sharon E.; Morales, Joannella
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Significant underascertainment in Huntington's disease
err2025-01-01
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errOAAI
errLee, Sujin; Weisburd, Ben; Lee, Jiwoo; Correia, Kevin; Zeng, Sophia; Park, Seri S.; Shin, Jun Wan; Choi, Doo Eun; Kim, Kyung-Hee; Jang, Jae-Hyun; Gillis, Tammy; Rehm, Heidi L.; Gusella, James F.; MacDonald, Marcy E.; Lee, Jong-Min
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