Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Emily Groopman

Showing results (1-10 of 25) with videos related to

Pageof 3
Sort By:
Kidney International Reports|April 14, 2025
Navigating Genetic Testing in Nephrology: Options and Decision-Making StrategiesEmily Groopman, Hila Milo Rasouly
The New England Journal of Medicine|May 23, 2019
Diagnostic Utility of Exome Sequencing for Kidney Disease. ReplyEmily Groopman, David Goldstein, Ali Gharavi
NEJM Evidence|June 25, 2024
A 15-Month-Old with Faltering GrowthJessica Mace, Rami Imam, Emily Groopman, et al.
Kidney International Reports|February 19, 2019
Unusual Case of Lipoprotein Glomerulopathy First Diagnosed in a Protocol Kidney Allograft BiopsyIbrahim Batal, Gaia Fakhoury, Emily Groopman, et al.
Annals of Internal Medicine|July 18, 2018
Whole-Exome Sequencing in Adults With Chronic Kidney DiseaseKrzysztof Kiryluk, Emily Groopman, Hila Rasouly, et al.
Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
Molecular Genetics and Metabolism|September 12, 2024
Developing a scoring system for gene curation prioritization in lysosomal diseasesMatheus Vernet Machado Bressan Wilke, Jennifer Goldstein, Emily Groopman, et al.
Medrxiv : the Preprint Server for Health Sciences|August 30, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Molecular Genetics and Metabolism|October 19, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Journal of the American Society of Nephrology : JASN|May 16, 2019
Exome-Based Rare-Variant Analyses in CKDSophia Cameron-Christie, Charles J Wolock, Emily Groopman, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Kidney International Reports|April 14, 2025
Navigating Genetic Testing in Nephrology: Options and Decision-Making StrategiesEmily Groopman, Hila Milo Rasouly
The New England Journal of Medicine|May 23, 2019
Diagnostic Utility of Exome Sequencing for Kidney Disease. ReplyEmily Groopman, David Goldstein, Ali Gharavi
NEJM Evidence|June 25, 2024
A 15-Month-Old with Faltering GrowthJessica Mace, Rami Imam, Emily Groopman, et al.
Kidney International Reports|February 19, 2019
Unusual Case of Lipoprotein Glomerulopathy First Diagnosed in a Protocol Kidney Allograft BiopsyIbrahim Batal, Gaia Fakhoury, Emily Groopman, et al.
Annals of Internal Medicine|July 18, 2018
Whole-Exome Sequencing in Adults With Chronic Kidney DiseaseKrzysztof Kiryluk, Emily Groopman, Hila Rasouly, et al.
Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
Molecular Genetics and Metabolism|September 12, 2024
Developing a scoring system for gene curation prioritization in lysosomal diseasesMatheus Vernet Machado Bressan Wilke, Jennifer Goldstein, Emily Groopman, et al.
Medrxiv : the Preprint Server for Health Sciences|August 30, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Molecular Genetics and Metabolism|October 19, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Journal of the American Society of Nephrology : JASN|May 16, 2019
Exome-Based Rare-Variant Analyses in CKDSophia Cameron-Christie, Charles J Wolock, Emily Groopman, et al.
Pageof 3