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Heidi L Rehm

Showing results (181-190 of 342) with videos related to

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The Journal of Clinical Investigation|January 30, 2026
EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunctionMaria C Foss-Freitas, Donatella Gilio, Lynn Pais, et al.
Circulation Research|April 10, 2010
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathyAdam J Saltzman, Debora Mancini-DiNardo, Chumei Li, et al.
Nature Reviews. Genetics|October 7, 2024
A call to action to scale up research and clinical genomic data sharingZornitza Stark, David Glazer, Oliver Hofmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 22, 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingRobert C Green, Jonathan S Berg, Wayne W Grody, et al.
American Journal of Human Genetics|January 5, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq ProjectOzge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 12, 2017
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingRobert C Green, Jonathan S Berg, Wayne W Grody, et al.
The New England Journal of Medicine|May 28, 2015
ClinGen--the Clinical Genome ResourceHeidi L Rehm, Jonathan S Berg, Lisa D Brooks, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult BiobanksNina B Gold, Hana Zouk, Julie Yeo, et al.
Annals of Clinical and Translational Neurology|August 3, 2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2018
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trialKurt D Christensen, Jason L Vassy, Kathryn A Phillips, et al.
Pageof 35

Showing results (181-190 of 342) with videos related to

Sort By:
Pageof 35
The Journal of Clinical Investigation|January 30, 2026
EBF2 variant identified in a patient with atypical partial lipodystrophy causes adipose fibrosis and dysfunctionMaria C Foss-Freitas, Donatella Gilio, Lynn Pais, et al.
Circulation Research|April 10, 2010
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathyAdam J Saltzman, Debora Mancini-DiNardo, Chumei Li, et al.
Nature Reviews. Genetics|October 7, 2024
A call to action to scale up research and clinical genomic data sharingZornitza Stark, David Glazer, Oliver Hofmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 22, 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingRobert C Green, Jonathan S Berg, Wayne W Grody, et al.
American Journal of Human Genetics|January 5, 2019
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq ProjectOzge Ceyhan-Birsoy, Jaclyn B Murry, Kalotina Machini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 12, 2017
CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingRobert C Green, Jonathan S Berg, Wayne W Grody, et al.
The New England Journal of Medicine|May 28, 2015
ClinGen--the Clinical Genome ResourceHeidi L Rehm, Jonathan S Berg, Lisa D Brooks, et al.
Medrxiv : the Preprint Server for Health Sciences|June 22, 2026
Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult BiobanksNina B Gold, Hana Zouk, Julie Yeo, et al.
Annals of Clinical and Translational Neurology|August 3, 2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2018
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trialKurt D Christensen, Jason L Vassy, Kathryn A Phillips, et al.
Pageof 35