Rapid access to genetic discoveries underlying human disease

por Rehm, Heidi L.
Publicado 2016

Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

por Harrison, Steven M., Rehm, Heidi L.
Publicado 2019

Keeping up with the genomes: scaling genomic variant interpretation

por Rehm, Heidi L., Fowler, Douglas M.
Publicado 2019

Insights from a genome-wide truth set of tandem repeat variation

por Weisburd, Ben, Tiao, Grace, Rehm, Heidi L.
Publicado 2023

Genetic variation in the Middle East—an opportunity to advance the human genetics field

por Abou Tayoun, Ahmad N., Rehm, Heidi L.
Publicado 2020

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers

por Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.
Publicado 2016

ClinVar Is a Critical Resource to Advance Variant Interpretation

por Rehm, Heidi L., Harrison, Steven M., Martin, Christa L.
Publicado 2017

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

por Seaby, Eleanor G., Rehm, Heidi L., O’Donnell-Luria, Anne
Publicado 2021

Aligning NIH’s existing data use restrictions to the GA4GH DUO standard

por Lawson, Jonathan, Ghanaim, Elena M., Baek, Jinyoung, Lee, Harin, Rehm, Heidi L.
Publicado 2023

Reclassification of the BRAF p.Ile208Val variant by case-level data sharing

por Grant, Andrew R., Hemphill, Sarah E., Vincent, Lisa M., Rehm, Heidi L.
Publicado 2018

TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling

por Moon, In Seok, Grant, Andrew R., Sagi, Varun, Rehm, Heidi L., Stankovic, Konstantina M.
Publicado 2021

Communicating new knowledge on previously reported genetic variants

por Aronson, Samuel J., Clark, Eugene H., Varugheese, Matthew, Baxter, Samantha, Babb, Lawrence J., Rehm, Heidi L.
Publicado 2012

An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics

por Li, Binglan, Whirl-Carrillo, Michelle, Wright, Matt W., Babb, Larry, Rehm, Heidi L., Klein, Teri E.
Publicado 2022

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

por Herman, Daniel S, Hovingh, G Kees, Iartchouk, Oleg, Rehm, Heidi L, Kucherlapati, Raju, Seidman, J G, Seidman, Christine E
Publicado 2009

The intersection of genetics and COVID-19 in 2021: preview of the 2021 Rodney Howell Symposium

por Rasmussen, Sonja A., Abul-Husn, Noura S., Casanova, Jean-Laurent, Daly, Mark J., Rehm, Heidi L., Murray, Michael F.
Publicado 2021

LB-11. Comparison of Viral Loads in Individuals With or Without Symptoms At Time of COVID-19 Testing Among 32,480 Residents and Staff of Nursing Homes and Assisted Living Facilitie...

por Lennon, Niall J, Mina, Michael, Rehm, Heidi L, Hung, Deborah T, Smole, Sandra, Woolley, Ann E, Lander, Eric, Gabriel, Stacey
Publicado 2020

Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance

por Galbraith, Lauren N., Preys, Charlene L., Rehm, Heidi L., Scheuner, Maren T., Hajek, Catherine, Green, Robert C., Christensen, Kurt D.
Publicado 2021

A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service

por Seaby, Eleanor G., Thomas, N. Simon, Hunt, David, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Publicado 2023

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

por Kothiyal, Prachi, Cox, Stephanie, Ebert, Jonathan, Husami, Ammar, Kenna, Margaret A, Greinwald, John H, Aronow, Bruce J, Rehm, Heidi L
Publicado 2010

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

por Niehaus, Annie, Azzariti, Danielle R., Harrison, Steven M., DiStefano, Marina T., Hemphill, Sarah E., Senol-Cosar, Ozlem, Rehm, Heidi L.
Publicado 2019