Johannes Birgmeier

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Karthik A. JagadeeshPostdoctoral Associate, Broad InstituteGeverifieerd e-mailadres voor cs.stanford.edu
Harendra GuturuPh.D., Stanford UniversityGeverifieerd e-mailadres voor stanford.edu
Dan BonehProfessor of Computer Science, Stanford UniversityGeverifieerd e-mailadres voor cs.stanford.edu
David N. CooperProfessor of Human Molecular Genetics, Cardiff University, UKGeverifieerd e-mailadres voor cardiff.ac.uk
Maximilian HaeusslerUC Santa Cruz Genomics Institute, UCSC Genome BrowserGeverifieerd e-mailadres voor soe.ucsc.edu
Alan H. Beggs, PhDProfessor of Pediatrics, Harvard Medical School, Director The Manton CenterGeverifieerd e-mailadres voor enders.tch.harvard.edu
David WuUniversity of Texas at AustinGeverifieerd e-mailadres voor cs.utexas.edu
Alex RatnerAssistant Professor, University of WashingtonGeverifieerd e-mailadres voor cs.washington.edu
Christopher RéComputer Science, Stanford UniversityGeverifieerd e-mailadres voor cs.stanford.edu
Catherine BrownsteinAssistant Professor at Harvard Medical School, Project Manager at Boston Children's HospitalGeverifieerd e-mailadres voor childrens.harvard.edu
Aaron BradleyGeverifieerd e-mailadres voor cs.stanford.edu
Georg WeissenbacherProfessor of Computer Science, TU WienGeverifieerd e-mailadres voor tuwien.ac.at
Matthew T WheelerAssistant Professor, Stanford UniversityGeverifieerd e-mailadres voor stanford.edu
James H. NotwellMapLight TherapeuticsGeverifieerd e-mailadres voor maplightrx.com
Susan K. McConnellDepartment of Biology, Stanford UniversityGeverifieerd e-mailadres voor stanford.edu
Whitney HeavnerNational Institutes of HealthGeverifieerd e-mailadres voor nih.gov
Ethan DyerGoogle Research, Blueshift TeamGeverifieerd e-mailadres voor google.com
Andrew TiernoStudent, Stanford UniversityGeverifieerd e-mailadres voor stanford.edu
Mark DiekhansUniversity of California, Santa Cruz; UC Santa Cruz Genomics InstituteGeverifieerd e-mailadres voor soe.ucsc.edu
Matthew PorteusProfessor of Pediatrics, Stanford UniversityGeverifieerd e-mailadres voor stanford.edu

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Johannes Birgmeier

Department of Computer Science, Stanford University

Geverifieerd e-mailadres voor cs.stanford.edu - Homepage

machine learning natural language processing computational genomics Mendelian diseases


Titel Sorteren op citaties Sorteren op jaar Sorteren op titel	Geciteerd door Geciteerd door	Jaar
Deriving genomic diagnoses without revealing patient genomes KA Jagadeesh, DJ Wu, JA Birgmeier, D Boneh, G Bejerano Science 357 (6352), 692-695, 2017	152	2017
Emergent high fatality lung disease in systemic juvenile arthritis VE Saper, G Chen, GH Deutsch, RP Guillerman, J Birgmeier, ... Annals of the Rheumatic Diseases 78 (12), 1722-1731, 2019	144	2019
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis CA Deisseroth, J Birgmeier, EE Bodle, JN Kohler, DR Matalon, ... Genetics in Medicine, 1, 2018	72	2018
Counterexample to induction-guided abstraction-refinement (CTIGAR) J Birgmeier, AR Bradley, G Weissenbacher International Conference on Computer Aided Verification, 831-848, 2014	71	2014
AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature J Birgmeier, M Haeussler, CA Deisseroth, EH Steinberg, KA Jagadeesh, ... Science translational medicine 12 (544), eaau9113, 2020	52	2020
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization KA Jagadeesh, J Birgmeier, H Guturu, CA Deisseroth, AM Wenger, ... Genetics in Medicine 21 (2), 464-470, 2019	42	2019
CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells DP Dever, SG Scharenberg, J Camarena, EJ Kildebeck, JT Clark, ... iScience 15, 524-535, 2019	31	2019
Transcription factor expression defines subclasses of developing projection neurons highly similar to single-cell RNA-seq subtypes WE Heavner, S Ji, JH Notwell, ES Dyer, AM Tseng, J Birgmeier, B Yoo, ... Proceedings of the National Academy of Sciences 117 (40), 25074-25084, 2020	28	2020
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature J Birgmeier, CA Deisseroth, LE Hayward, LMT Galhardo, AP Tierno, ... Genetics in Medicine, 1-9, 2019	23	2019
AMELIE accelerates Mendelian patient diagnosis directly from the primary literature J Birgmeier, M Haeussler, CA Deisseroth, KA Jagadeesh, AJ Ratner, ... bioRxiv, 171322, 2017	21	2017
Childhood Arthritis and Rheumatology Research Alliance Registry Investigators. Emergent high fatality lung disease in systemic juvenile arthritis VE Saper, G Chen, GH Deutsch, RP Guillerman, J Birgmeier, ... Ann Rheum Dis 78 (12), 1722-1731, 2019	18	2019
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease HI Chen, KA Jagadeesh, J Birgmeier, AM Wenger, H Guturu, S Schelley, ... European Journal of Human Genetics, 1, 2018	18	2018
Biallelic loss‐of‐function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome J Birgmeier, ED Esplin, KA Jagadeesh, H Guturu, AM Wenger, H Chaib, ... American Journal of Medical Genetics Part A 176 (4), 1030-1036, 2018	16	2018
AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year J Birgmeier, E Steinberg, EE Bodle, CA Deisseroth, KA Jagadeesh, ... medRxiv, 2020.12. 29.20248974, 2021	3	2021
Keeping patient phenotypes and genotypes private while seeking disease diagnoses KA Jagadeesh, DJ Wu, JA Birgmeier, D Boneh, G Bejerano bioRxiv, 746230, 2019	2	2019
InpherNet accelerates monogenic disease diagnosis using patients’ candidate genes’ neighbors B Yoo, J Birgmeier, JA Bernstein, G Bejerano Genetics in Medicine 23 (10), 1984-1992, 2021	1	2021
P127 Lung disease in systemic JIA: an emerging problem linked with young age and anti-IL-1/IL-6 G Chen, V Saper, G Deutsch, RP Guillerman, K Jagadeesh, G Schulert, ... Annals of the Rheumatic Diseases 78 (Suppl 1), A57-A57, 2019	1	2019
Differential chromatin accessibility in developing projection neurons is correlated with transcriptional regulation of cell fate WE Heavner, S Ji, JH Notwell, ES Dyer, AM Tseng, J Birgmeier, B Yoo, ... bioRxiv, 645572, 2019	1	2019
Using Spectral Clustering to Sample Molecular States and Pathways SH Ahn, J Birgmeier	1	2015
Machine Learning-based Acceleration of Monogenic Disease Diagnosis J Birgmeier Stanford University, 2019		2019

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