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Sophie H. R. Storz

Observed names: S. Storz, Sophie H. Storz, Sophie H.R. Storz, Sophie HR Storz, Sophie Storz, Sophie H R Storz
ORCID: 0009-0001-3099-9738
Observed ORCID: 0009-0001-3099-9738
OpenAlex ID: A5078435518
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
2024 · Jonas A. Gustafson, Sophia B. Gibson, et al. · Genome Research · 95
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Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
2024 · Jonas A Gustafson, Sophia B Gibson, et al. · medRxiv · 34
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Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease
2025 · Carlos A. Dominguez Gonzalez, Katrina M. Bell, et al. · Neurology Genetics · 10
Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes
2025 · Cate R. Paschal, Miranda P.G. Zalusky, et al. · Journal of Molecular Diagnostics · 8
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Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells
2025 · Ria Thomas, Emily Miyoshi, et al. · Nucleic Acids Research · 5
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Long-read sequencing is required for precision diagnosis of incontinentia pigmenti
2025 · Monica H. Wojcik, Robin D. Clark, et al. · Human Genetics and Genomics Advances · 3
Expanding the Role of SH2B3: T Cell Large Granular Lymphocytosis (LGL) and Common Variable Immune Deficiency in the Setting of Biallelic SH2B3 Mutations
2024 · Tiffany Hangse, Shalini Pullarkat, et al. · Blood · 3
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A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes
2026 · Elbay Aliyev, Akshay Avvaru, et al. · Genome biology · 2
Long-read Sequencing of Cell-free DNA From Bronchoalveolar Lavage Fluid Reveals Its Fragmentation Pattern, Methylation Landscape, and Mutational Profile in Lung Cancer
2025 · V.S. Nair, M. Snyder, et al. · American Journal of Respiratory and Critical Care Medicine · 1
EpiSignaLR: an open resource for genome-wide episignature analysis from methylation-aware short- and long-read sequencing
2026 · Sophia B. Gibson, Miranda P.G. Zalusky, et al. · medRxiv
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Long-read sequencing with targeted assembly of the opsin locus accurately evaluates genes in expressed positions
2026 · Zachary B. Anderson, Trent Prall, et al. · npj Genomic Medicine
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Concordance of rapid whole genome and targeted long read sequencing of pediatric brain tumors with standard clinical testing
2026 · Min Seon Park, Erin Crotty, et al. · Research Square
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Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns
2026 · Colby T. Marvin, Joseph M. Devaney, et al. · medRxiv
Determinants of haplotype phasing accuracy in long-read human genome sequencing
2026 · Nikhita Damaraju, F. Graeme Frost, et al. · bioRxiv (Cold Spring Harbor Laboratory)
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Ultra-fast sample-to-sequencing workflow for clinical diagnostics using micropillars
2026 · Adam J Bisogni, Irem Bastuzel, et al. · medRxiv
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P571: LRSight: Clinical long-read sequencing for insight into inheritance risk*
2026 · Candace Myers, Miranda Zalusky, et al. · Genetics in Medicine Open
Long‐read DNA sequencing resolves a rare case of alloimmune hemolysis mimicking autoimmune hemolysis
2025 · Hui Xiao Chao, Thomas Ma, et al. · Transfusion
10: Untangling complex 15q rearrangements through long-read whole-genome sequencing
2025 · Cate R. Paschal, Miranda PG. Zalusky, et al. · Genetics in Medicine Open
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P693: Resolution of newborn screening results via targeted long-read sequencing
2025 · Cate Paschal, Sunny Ye, et al. · Genetics in Medicine Open
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P655: Performing long-read sequencing from dried blood spot cards
2024 · Sydney Ward, Joy Goffena, et al. · Genetics in Medicine Open
Genome Sequences of Subcluster M2 Mycobacteriophages Estes and Aziz
2021 · Sara K. Fitzgerald, Eleanor H. Johnson, et al. · Microbiology Resource Announcements
Works count: 21
Citation count: 161
H-index: 5
I10-index: 3
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