Sotabase

Career

· Quantitative Researcher, Citadel Securities2020–
· PhD in Computer Science, Stanford University2014–2019
· Research Assistant, Stanford University2014–2020
· MS in Computer Science, Vienna University of Technology

Publications (25)

Emergent high fatality lung disease in systemic juvenile arthritis
Annals of the Rheumatic Diseases · 2019
166
cited
Deriving genomic diagnoses without revealing patient genomes
Science · 2017
132
cited
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Genetics in Medicine · 2018
97
cited
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
Science Translational Medicine · 2020
90
cited
Counterexample to Induction-Guided Abstraction-Refinement (CTIGAR)
International Conference on Computer Aided Verification · 2014
59
cited
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization
Genetics in Medicine · 2018
50
cited
AMELIE accelerates Mendelian patient diagnosis directly from the primary literature
bioRxiv · 2017
27
cited
CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells
iScience · 2019
27
cited
Transcription factor expression defines subclasses of developing projection neurons highly similar to single-cell RNA-seq subtypes
Proceedings of the National Academy of Sciences of the United States of America · 2020
25
cited
AVADA: Towards Automated Pathogenic Variant Evidence Retrieval Directly from the Full Text Literature
Genetics in Medicine · 2019
23
cited
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease
European Journal of Human Genetics · 2018
17
cited
Biallelic loss‐of‐function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome
American Journal of Medical Genetics. Part A · 2018
13
cited
AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year
medRxiv · 2021
6
cited
InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors
Genetics in Medicine · 2021
5
cited
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to accelerate genetic disease diagnosis
bioRxiv · 2018
3
cited
AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature
bioRxiv · 2019
2
cited
AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature
bioRxiv · 2018
1
cited
AVADA Improves Automated Genetic Variant Database 2 Construction Directly from Full Text Literature
2019
1
cited
InpherNet provides attractive monogenic disease gene hypotheses using patient genes indirect neighbors
medRxiv · 2020
1
cited
Keeping patient phenotypes and genotypes private while seeking disease diagnoses
bioRxiv · 2019
1
cited
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Johannes Birgmeier | Researcher Profile | Sotabase | Sotabase