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Jane Ranchalis

Showing results (21-30 of 34) with videos related to

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Biorxiv : the Preprint Server for Biology|June 22, 2026
Saturation Genome Editing reveals the functional impact of RAD51D <i>and</i> XRCC2 variantsSilvia Casadei, Matthew W Snyder, Ivan Woo, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
A haplotype-resolved view of human gene regulationMitchell R Vollger, Elliott G Swanson, Shane J Neph, 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.
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.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Biorxiv : the Preprint Server for Biology|October 9, 2023
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
Nature Genetics|January 29, 2025
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of <i>UQCRFS1</i>-related mitochondrial complex III deficiency and recessive <i>GJA8</i>-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsTaralynn M Mack, Jiadong Lin, Luyao Ren, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

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Pageof 4
Biorxiv : the Preprint Server for Biology|June 22, 2026
Saturation Genome Editing reveals the functional impact of RAD51D <i>and</i> XRCC2 variantsSilvia Casadei, Matthew W Snyder, Ivan Woo, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
A haplotype-resolved view of human gene regulationMitchell R Vollger, Elliott G Swanson, Shane J Neph, 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.
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.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Neurology. Genetics|August 10, 2023
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
Biorxiv : the Preprint Server for Biology|October 9, 2023
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
Nature Genetics|January 29, 2025
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian conditionMitchell R Vollger, Jonas Korlach, Kiara C Eldred, et al.
Rare (Amsterdam, Netherlands)|October 18, 2024
Dual diagnosis of <i>UQCRFS1</i>-related mitochondrial complex III deficiency and recessive <i>GJA8</i>-related cataractsElizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsTaralynn M Mack, Jiadong Lin, Luyao Ren, et al.
Pageof 4