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Sarah Fazal

Showing results (11-20 of 18) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Assessing non-Mendelian inheritance in inherited axonopathiesDana M Bis-Brewer, Ziv Gan-Or, Patrick Sleiman, et al.
Genome Research|March 20, 2025
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Human Molecular Genetics|August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variationSarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohortSarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Genome Medicine|August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsEgor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
The New England Journal of Medicine|December 14, 2022
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaDavid Pellerin, Matt C Danzi, Carlo Wilke, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Assessing non-Mendelian inheritance in inherited axonopathiesDana M Bis-Brewer, Ziv Gan-Or, Patrick Sleiman, et al.
Genome Research|March 20, 2025
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.
Human Molecular Genetics|August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variationSarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohortSarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Genome Medicine|August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsEgor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
The New England Journal of Medicine|December 14, 2022
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar AtaxiaDavid Pellerin, Matt C Danzi, Carlo Wilke, et al.
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