Sarah Fazal
3PUBLICATIONS
18CO-AUTHORS
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Publications (3)
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|Mar 20, 2025
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.Tanner D Jensen, Bohan Ni, Chloe M Reuter
|Apr 08, 2024
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.Tanner D Jensen, Bohan Ni, Chloe M Reuter
|Aug 01, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.Sarah Fazal, Matt C Danzi, André B P van Kuilenburg
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Frequent Collaborators
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Stephan Zuchner
2 joint publications
Tanner D Jensen
2 joint publications
Bohan Ni
2 joint publications
John E Gorzynski
2 joint publications
Devon Bonner
2 joint publications
Rachel A Ungar
2 joint publications
Pagé C Goddard
2 joint publications
Archana Raja
2 joint publications
Euan A Ashley
2 joint publications
Jonathan A Bernstein
