Sarah Fazal

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

Egor Dolzhenko, Ben Weisburd, Kristina Ibáñez et al. · Genome Medicine · 2022 · 55 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Deep structured learning for variant prioritization in Mendelian diseases

Matt C. Danzi, Maike F. Dohrn, Sarah Fazal et al. · Nature Communications · 2023 · 43 citations · Full text

Life Sciences, Bioinformatics, Genetics +15

Inhibition of fascin in cancer and stromal cells blocks ovarian cancer metastasis

Sean E. McGuire, Betül Kara, Peter C. Hart et al. · Gynecologic Oncology · 2019 · 38 citations · Full text

Medicine, Cancer Biology, Oncology +10

Large scale in silico characterization of repeat expansion variation in human genomes

Sarah Fazal, Matt C. Danzi, Vívian Pedigone Cintra et al. · Scientific Data · 2020 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15