Concepedia

Johannes Birgmeier

JB

Statistics

Publications

12

Citations

812

H-Index

12

Active since

2017

Affiliations

Stanford University(Current)

Stanford Medicine

Johns Hopkins University

Boston Children's Hospital

Harvard University

Johannes Birgmeier is an author at Stanford University specializing in medicine, genetics, and molecular diagnostics.

ORCID

Top concepts

Publications per year

2017–2020

12

Publications

12

Emergent high fatality lung disease in systemic juvenile arthritis

Vivian E Saper, Guangbo Chen, Gail Deutsch et al. · Annals of the Rheumatic Diseases · 2019 · 201 citations · Full text

Deriving genomic diagnoses without revealing patient genomes

Karthik A. Jagadeesh, David J. Wu, Johannes Birgmeier et al. · Science · 2017 · 143 citations · Full text

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

Johannes Birgmeier, Maximilian Haeussler, Cole A. Deisseroth et al. · Science Translational Medicine · 2020 · 117 citations · Full text

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle et al. · Genetics in Medicine · 2018 · 107 citations · Full text

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Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

Karthik A. Jagadeesh, Johannes Birgmeier, Harendra Guturu et al. · Genetics in Medicine · 2018 · 57 citations · Full text

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