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Elizabeth E Blue

Showing results (41-50 of 68) with videos related to

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Nucleic Acids Research|November 9, 2022
FAVOR: functional annotation of variants online resource and annotator for variation across the human genomeHufeng Zhou, Theodore Arapoglou, Xihao Li, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencingSophia B Gibson, Nikhita Damaraju, J Gus Gustafson, et al.
Medrxiv : the Preprint Server for Health Sciences|November 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditionsYong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, et al.
HGG Advances|February 7, 2022
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patientsQuan Sun, Weifang Liu, Jonathan D Rosen, et al.
HGG Advances|June 1, 2022
Accounting for population structure in genetic studies of cystic fibrosisHanley Kingston, Adrienne M Stilp, William Gordon, et al.
American Journal of Medical Genetics. Part A|June 18, 2022
Exome sequencing identifies genetic variants in anophthalmia and microphthalmiaJingjing Li, Wei Yang, Yuejun Jessie Wang, et al.
Birth Defects Research|July 11, 2024
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention StudyElizabeth E Blue, Kristin J Moore, Kari E North, et al.
American Journal of Respiratory and Critical Care Medicine|January 9, 2023
The Genetic Landscape of Familial Pulmonary FibrosisQi Liu, Yuan Zhou, Joy D Cogan, et al.
HGG Advances|September 4, 2023
Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndromeElizabeth E Blue, Janson J White, Michael K Dush, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of <i>BAP1</i> Functional Assays for Küry-Isidor SyndromePankhuri Gupta, Elsa V Balton, Mavika Tejura, et al.
Pageof 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
Nucleic Acids Research|November 9, 2022
FAVOR: functional annotation of variants online resource and annotator for variation across the human genomeHufeng Zhou, Theodore Arapoglou, Xihao Li, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2026
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencingSophia B Gibson, Nikhita Damaraju, J Gus Gustafson, et al.
Medrxiv : the Preprint Server for Health Sciences|November 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditionsYong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, et al.
HGG Advances|February 7, 2022
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patientsQuan Sun, Weifang Liu, Jonathan D Rosen, et al.
HGG Advances|June 1, 2022
Accounting for population structure in genetic studies of cystic fibrosisHanley Kingston, Adrienne M Stilp, William Gordon, et al.
American Journal of Medical Genetics. Part A|June 18, 2022
Exome sequencing identifies genetic variants in anophthalmia and microphthalmiaJingjing Li, Wei Yang, Yuejun Jessie Wang, et al.
Birth Defects Research|July 11, 2024
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention StudyElizabeth E Blue, Kristin J Moore, Kari E North, et al.
American Journal of Respiratory and Critical Care Medicine|January 9, 2023
The Genetic Landscape of Familial Pulmonary FibrosisQi Liu, Yuan Zhou, Joy D Cogan, et al.
HGG Advances|September 4, 2023
Rare variants in <i>CAPN2</i> increase risk for isolated hypoplastic left heart syndromeElizabeth E Blue, Janson J White, Michael K Dush, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of <i>BAP1</i> Functional Assays for Küry-Isidor SyndromePankhuri Gupta, Elsa V Balton, Mavika Tejura, et al.
Pageof 7