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Adam S L Graefe

simon fraser university

4H-index
19Paper Count
55Citation Count
Published Papers 9
Publication Date
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Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools
errEuropean Journal of Human Genetics
IF4.6
err2026-02-24
err0
errOAAI
errJustin T. Reese; Leonardo Chimirri; Yasemin Bridges; Daniel Danis; J. Harry Caufield; Michael A. Gargano; Carlo Kroll; Andrew Schmeder; Fengchen Liu; Kyran Wissink; Julie A. McMurry; Adam S. L. Graefe; Enock Niyonkuru; Daniel R. Korn; Elena Casiraghi; Giorgio Valentini; Julius O. B. Jacobsen; Melissa Haendel; Damian Smedley; Christopher J. Mungall; Peter N. Robinson
errShare
errSave
LinkML: an open data modeling framework
errGigaScience
IF3.9
err2026-01-01
err0
PREAI
errMoxon, Sierra A. T.; Solbrig, Harold; Harris, Nomi L.; Kalita, Patrick; Miller, Mark A.; Patil, Sujay; Schaper, Kevin; Bizon, Chris; Caufield, J. Harry; Cuesta, Silvano Cirujano; Cox, Corey; Dekervel, Frank; Dooley, Damion M.; Duncan, William D.; Fliss, Tim; Gehrke, Sarah; Graefe, Adam S. L.; Hegde, Harshad; Ireland, A. J.; Jacobsen, Julius O. B.; Krishnamurthy, Madan; Kroll, Carlo; Linke, David; Ly, Ryan; Matentzoglu, Nicolas; Overton, James A.; Saunders, Jonny L.; Unni, Deepak R.; Vaidya, Gaurav; Vierdag, Wouter-Michiel A. M.; Ruebel, Oliver; Chute, Christopher G.; Brush, Matthew H.; Haendel, Melissa A.; Mungall, Christopher J.
errShare
errSave
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders
errThe American Journal of Human Genetics
IF0
err2025-12-23
err0
errOAAI
errLauren Rekerle; Daniel Danis; Filip Rehburg; Adam S.L. Graefe; Viktor Bily; Andrés Caballero-Oteyza; Pilar Cacheiro; Leonardo Chimirri; Jessica X. Chong; Evan Connelly; Bert B.A. de Vries; Alexander J.M. Dingemans; Michael H. Duyzend; Tomas Freiberger; Petra Gehle; Tudor Groza; Peter Hansen; Julius O.B. Jacobsen; Adam Klocperk; Markus S. Ladewig
errShare
errSave
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
errnpj Genomic Medicine
IF4.8
err2025-11-18
err0
errOAAI
errAdam S. L. Graefe; Filip Rehburg; Samer Alkarkoukly; Daniel Danis; Ana Grönke; Miriam R. Hübner; Alexander Bartschke; Thomas Debertshäuser; Sophie A. I. Klopfenstein; Julian Saß; Julia Fleck; Mirko Rehberg; Jana Zschüntzsch; Elisabeth F. Nyoungui; Tatiana Kalashnikova; Luis Murguía-Favela; Beata Derfalvi; Nicola A. M. Wright; Shahida Moosa; Soichi Ogishima; Oliver Semler; Susanna Wiegand; Peter Kühnen; Christopher J. Mungall; Melissa A. Haendel; Peter N. Robinson; Sylvia Thun; Oya Beyan
errShare
errSave
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
erreBioMedicine
IF10.8
err2025-10-14
err0
errOAAI
errLeonardo Chimirri; J. Harry Caufield; Yasemin Bridges; Nicolas Matentzoglu; Michael Gargano; Mario Cazalla; Shihan Chen; Daniel Danis; Alexander J.M. Dingemans; Klara Gehle; Petra Gehle; Adam S.L. Graefe; Weihong Gu; Markus S. Ladewig; Pablo Lapunzina; Julián Nevado; Enock Niyonkuru; Soichi Ogishima; Dominik Seelow; Jair A. Tenorio Castaño; Marek Turnovec; Bert B.A. de Vries; Kai Wang; Kyran Wissink; Zafer Yüksel; Gabriele Zucca; Melissa A. Haendel; Christopher J. Mungall; Justin Reese; Peter N. Robinson
errShare
errSave
Genomics on FHIR – a feasibility study to support a National Strategy for Genomic Medicine
errnpj Genomic Medicine
IF4.8
err2025-07-29
err0
PREAI
errNina Haffer; Caroline Stellmach; Julian Sass; Michael R. Muzoora; Adam S. L. Graefe; Sylvia Thun; Carina N. Vorisek
errShare
errSave
An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets
errSCIENTIFIC DATA
IF6.9
err2025-02-08
err0
errOAAI
errGraefe, Adam S. L.; Huebner, Miriam R.; Sander, Steffen; Klopfenstein, Sophie A. I.; Groenke, Ana; Weyersberg, Annic; Danis, Daniel; Zschuentzsch, Jana; Nyoungui, Elisabeth F.; Wiegand, Susanna; Kuehnen, Peter; Robinson, Peter N.; Beyan, Oya; Thun, Sylvia
errShare
errSave
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2025-01-01
err4
errOAAI
errDanis, Daniel; Bamshad, Michael J.; Bridges, Yasemin; Caballero-Oteyza, Andres; Cacheiro, Pilar; Carmody, Leigh C.; Chimirri, Leonardo; Chong, Jessica X.; Coleman, Ben; Dalgleish, Raymond; Freeman, Peter J.; Graefe, Adam S. L.; Groza, Tudor; Hansen, Peter; Jacobsen, Julius O. B.; Klocperk, Adam; Kusters, Maaike; Ladewig, Markus S.; Marcello, Allison J.; Mattina, Teresa; Mungall, Christopher J.; Munoz-Torres, Monica C.; Reese, Justin T.; Rehburg, Filip; Reis, Barbara C. S.; Schuetz, Catharina; Smedley, Damian; Strauss, Timmy; Sundaramurthi, Jagadish Chandrabose; Thun, Sylvia; Wissink, Kyran; Wagstaff, John F.; Zocche, David; Haendel, Melissa A.; Robinson, Peter N.
errShare
errSave
Considerations on the basis of medical reasoning for the use in AI applications
errFRONTIERS IN MEDICINE
IF3
err2024-09-18
err1
errOAAI
errKoumpis, Adamantios; Graefe, Adam S. L.
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
P
Peter N. Robinson
H-index: 90 · Papers: 796
M
Mark A. Miller
H-index: 78 · Papers: 356
M
Melissa Haendel
H-index: 75 · Papers: 608
B
Bert B.A. de Vries
H-index: 73 · Papers: 285
P
Pablo Lapunzina
H-index: 64 · Papers: 461
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