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Danny E Miller

Showing results (81-90 of 112) with videos related to

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Nature Communications|January 23, 2026
Using the linear references from the pangenome to discover missing autism variantsYang Sui, Jiadong Lin, Michelle D Noyes, et al.
Research Square|February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Medrxiv : the Preprint Server for Health Sciences|August 8, 2025
Pangenome discovery of missing autism variantsYang Sui, Jiadong Lin, Michelle D Noyes, 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.
Neurology. Genetics|September 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind SpotCarlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
American Journal of Human Genetics|February 25, 2025
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newbornsTara L Wenger, Abbey Scott, Lukas Kruidenier, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Pageof 12

Showing results (81-90 of 112) with videos related to

Sort By:
Pageof 12
Nature Communications|January 23, 2026
Using the linear references from the pangenome to discover missing autism variantsYang Sui, Jiadong Lin, Michelle D Noyes, et al.
Research Square|February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Medrxiv : the Preprint Server for Health Sciences|August 8, 2025
Pangenome discovery of missing autism variantsYang Sui, Jiadong Lin, Michelle D Noyes, 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.
Neurology. Genetics|September 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind SpotCarlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
American Journal of Human Genetics|February 25, 2025
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newbornsTara L Wenger, Abbey Scott, Lukas Kruidenier, et al.
Genetics in Medicine Open|November 1, 2024
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testingJonathan Marquez, Jennifer N Cech, Cate R Paschal, et al.
Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Pageof 12