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Papers共 23 篇Author StatisticsCo-AuthorSimilar Experts

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Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases
Leonardo Chimirri,J Harry Caufield,Yasemin Bridges,Nicolas Matentzoglu, Michael Gargano, Mario Cazalla, Shihan Chen,Daniel Danis, Alexander Jm Dingemans, 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 Ba de Vries,Kai Wang, Kyran Wissink, Zafer Yüksel, Gabriele Zucca,Melissa A Haendel,Christopher J Mungall, Justin Reese,Peter N Robinson
medRxiv the preprint server for health sciences (2025)
Cited0Views0WOSBibtex
0
0
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders
Lauren Rekerle,Daniel Danis, Filip Rehburg, Adam Sl Graefe, Viktor Bily,Andrés Caballero-Oteyza,Pilar Cacheiro, Leonardo Chimirri,Jessica X Chong, Evan Connelly, Bert Ba de Vries,Alexander Jm Dingemans,Michael H Duyzend,Tomas Freiberger, Petra Gehle,Tudor Groza, Peter Hansen,Julius O B Jacobsen,Adam Klocperk,Markus S Ladewig,Michael I Love, Allison J Marcello,Alexander Mordhorst,Monica C Munoz-Torres, Justin Reese, Catharina Schütz,Damian Smedley,Timmy Strauss, Ondrej Vladyka,David Zocche,Sylvia Thun,Christopher J Mungall,Melissa A Haendel,Peter N Robinson
medRxiv the preprint server for health sciences (2025)
Cited0Views0WOSBibtex
0
0
The Human Phenotype Ontology in 2024: Phenotypes Around the World
Michael A. Gargano,Nicolas Matentzoglu,Ben Coleman, Eunice B. Addo-Lartey,Anna V. Anagnostopoulos,Joel Anderton,Paul Avillach,Anita M. Bagley,Eduard Bakstein,James P. Balhoff,Gareth Baynam,Susan M. Bello,Michael Berk,Holli Bertram,Somer Bishop,Hannah Blau,David F. Bodenstein,Pablo Botas,Kaan Boztug, Jolana Cady,Tiffany J. Callahan,Rhiannon Cameron,Seth J. Carbon,Francisco Castellanos,J. Harry Caufield,Lauren E. Chan,Christopher G. Chute,Jaime Cruz-Rojo,Noemi Dahan-Oliel,Jon R. Davids, Maud de Dieuleveult,Vinicius de Souza,Bert B. A. de Vries,Esther de Vries,J. Raymond DePaulo,Beata Derfalvi,Ferdinand Dhombres,Claudia Diaz-Byrd,Alexander J. M. Dingemans,Bruno Donadille,Michael Duyzend,Reem Elfeky,Shahim Essaid, Carolina Fabrizzi,Giovanna Fico,Helen V. Firth,Yun Freudenberg-Hua,Janice M. Fullerton,Davera L. Gabriel,Kimberly Gilmour,Jessica Giordano,Fernando S. Goes, Rachel Gore Moses, Ian Green,Matthias Griese,Tudor Groza,Weihong Gu,Julia Guthrie,Benjamin Gyori,Ada Hamosh,Marc Hanauer,Katerina Hanusova,Yongqun (Oliver) He,Harshad Hegde,Ingo Helbig, Katerina Holasova,Charles Tapley Hoyt,Shangzhi Huang,Eric Hurwitz,Julius O. B. Jacobsen, Xiaofeng Jiang,Lisa Joseph,Kamyar Keramatian, Bryan King,Katrin Knoflach,David A. Koolen, Megan L. Kraus, Carlo Kroll,Maaike Kusters,Markus S. Ladewig,David Lagorce,Meng-Chuan Lai,Pablo Lapunzina,Bryan Laraway,David Lewis-Smith, Xiarong Li,Caterina Lucano,Marzieh Majd,Mary L. Marazita,Victor Martinez-Glez,Toby H. McHenry,Melvin G. McInnis,Julie A. McMurry, Michaela Mihulova,Caitlin E. Millett,Philip B. Mitchell,Veronika Moslerova, Kenji Narutomi,Shahrzad Nematollahi,Julian Nevado,Andrew A. Nierenberg, Nikola Novak Cajbikova,John I. Nurnberger,Soichi Ogishima, Daniel Olson,Abigail Ortiz,Harry Pachajoa,Guiomar Perez de Nanclares,Amy Peters,Tim Putman,Christina K. Rapp,Ana Rath,Justin Reese,Lauren Rekerle,Angharad M. Roberts, Suzy Roy,Stephan J. Sanders,Catharina Schuetz,Eva C. Schulte,Thomas G. Schulze,Martin Schwarz,Katie Scott,Dominik Seelow,Berthold Seitz,Yiping Shen,Morgan N. Similuk,Eric S. Simon,Balwinder Singh,Damian Smedley,Cynthia L. Smith, Jake T. Smolinsky,Sarah Sperry,Elizabeth Stafford,Ray Stefancsik,Robin Steinhaus,Rebecca Strawbridge,Jagadish Chandrabose Sundaramurthi, Polina Talapova,Jair A. Tenorio Castano,Pavel Tesner,Rhys H. Thomas,Audrey Thurm,Marek Turnovec,Marielle E. van Gijn,Nicole A. Vasilevsky,Marketa Vlckova,Anita Walden, Kai Wang,Ron Wapner,James S. Ware, Addo A. Wiafe,Samuel A. Wiafe,Lisa D. Wiggins,Andrew E. Williams, Chen Wu,Margot J. Wyrwoll, Hui Xiong,Nefize Yalin,Yasunori Yamamoto,Lakshmi N. Yatham,Anastasia K. Yocum,Allan H. Young,Zafer Yueksel,Peter P. Zandi,Andreas Zankl,Ignacio Zarante,Miroslav Zvolsk,Sabrina Toro,Leigh C. Carmody,Nomi L. Harris,Monica C. Munoz-Torres,Daniel Danis,Christopher J. Mungall,Sebastian Koehler,Melissa A. Haendel,Peter N. Robinson
NUCLEIC ACIDS RESEARCHno. D1 (2023): D1333-D1346
Cited42Views0WOSBibtex
42
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Author Statistics

#Papers: 23

#Citation: 690

H-Index: 10

G-Index: 17

Sociability: 6

Diversity: 2

Activity: 5

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