Sarah Fazal

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 4

Top Topics

Single Molecule

Congenital Heart Disease

Ejection Fraction

Top Venues

medRxiv : the preprint server for health sciences

Human molecular genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Tanner D Jensen, Bohan Ni, Chloe Reuter, John E Gorzynski, Sarah Fazal, Devon E Bonner, Rachel Allison Ungar, Pagé C Goddard, Archana Natarajan Raja, Euan A Ashley, Jonathan A Bernstein, Stephan Zuchner, null null, Michael D Greicius, Stephen B Montgomery, Michael C Schatz, Matthew T Wheeler, Alexis J Battle
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease. medRxiv : the preprint server for health sciences (2024)
Tanner D Jensen, Bohan Ni, Chloe M Reuter, John E Gorzynski, Sarah Fazal, Devon E Bonner, Rachel Allison Ungar, Pagé C Goddard, Archana Natarajan Raja, Euan A Ashley, Jonathan A Bernstein, Stephan Zuchner, null null, Michael D Greicius, Stephen B Montgomery, Michael C Schatz, Matthew T Wheeler, Alexis J Battle
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease. medRxiv : the preprint server for health sciences (2024)
Tanner D Jensen, Bohan Ni, Chloe M Reuter, John E Gorzynski, Sarah Fazal, Devon E Bonner, Rachel Allison Ungar, Pagé C Goddard, Archana Natarajan Raja, Euan A Ashley, Jonathan A Bernstein, Stephan Zuchner, null null, Michael D Greicius, Stephen B Montgomery, Michael C Schatz, Matthew T Wheeler, Alexis J Battle
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease. medRxiv : the preprint server for health sciences (2024)
Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender, René Leen, Camilo Toro, Karen Usdin, Bruce Hayward, David R Adams, Clara D M van Karnebeek, Carlos R Ferreira, Precilla D'Sousa, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner, Matthis Synofzik
Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. Human molecular genetics (2022)