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Marsha M Wheeler

Showing results (21-30 of 35) with videos related to

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Human Molecular Genetics|October 12, 2018
Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African AmericansLinda M Polfus, Laura M Raffield, Marsha M Wheeler, et al.
American Journal of Human Genetics|May 3, 2022
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence dataLe Huang, Jonathan D Rosen, Quan Sun, et al.
Cell Death & Disease|May 30, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformationsElizabeth A Werren, Emily R Peirent, Henna Jantti, et al.
Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Nature|November 12, 2025
GREGoR: accelerating genomics for rare diseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
Journal of Thrombosis and Haemostasis : JTH|May 14, 2025
Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleedingRachel K Friedman, Adam S Heath, Jennifer E Huffman, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
Nature Communications|December 9, 2022
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed programMarsha M Wheeler, Adrienne M Stilp, Shuquan Rao, et al.
Science Advances|May 1, 2023
The genetic determinants of recurrent somatic mutations in 43,693 blood genomesJoshua S Weinstock, Cecelia A Laurie, Jai G Broome, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Human Molecular Genetics|October 12, 2018
Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African AmericansLinda M Polfus, Laura M Raffield, Marsha M Wheeler, et al.
American Journal of Human Genetics|May 3, 2022
TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence dataLe Huang, Jonathan D Rosen, Quan Sun, et al.
Cell Death & Disease|May 30, 2024
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformationsElizabeth A Werren, Emily R Peirent, Henna Jantti, et al.
Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Nature|November 12, 2025
GREGoR: accelerating genomics for rare diseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
Journal of Thrombosis and Haemostasis : JTH|May 14, 2025
Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleedingRachel K Friedman, Adam S Heath, Jennifer E Huffman, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
Nature Communications|December 9, 2022
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed programMarsha M Wheeler, Adrienne M Stilp, Shuquan Rao, et al.
Science Advances|May 1, 2023
The genetic determinants of recurrent somatic mutations in 43,693 blood genomesJoshua S Weinstock, Cecelia A Laurie, Jai G Broome, et al.
Pageof 4