Daniel Danis

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 13

Top Topics

Gene Expression

Electronic Health Record

Top Venues

medRxiv : the preprint server for health sciences

Nature biotechnology

NPJ digital medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Justin T Reese, Leonardo Chimirri, Daniel Danis, J Harry Caufield, Kyran Wissink, Elena Casiraghi, Giorgio Valentini, Melissa A Haendel, Christopher John Mungall, Peter Nick Robinson
Evaluation of the Diagnostic Accuracy of GPT-4 in Five Thousand Rare Disease Cases. medRxiv : the preprint server for health sciences (2024)
Justin T Reese, Leonardo Chimirri, Daniel Danis, J Harry Caufield, Kyran Wissink, Elena Casiraghi, Giorgio Valentini, Melissa A Haendel, Christopher John Mungall, Peter Nick Robinson
Evaluation of the Diagnostic Accuracy of GPT-4 in Five Thousand Rare Disease Cases. medRxiv : the preprint server for health sciences (2024)
Justin T Reese, Leonardo Chimirri, Daniel Danis, J Harry Caufield, Kyran Wissink, Elena Casiraghi, Giorgio Valentini, Melissa A Haendel, Christopher John Mungall, Peter Nick Robinson
Evaluation of the Diagnostic Accuracy of GPT-4 in Five Thousand Rare Disease Cases. medRxiv : the preprint server for health sciences (2024)
Justin T Reese, Daniel Danis, J Harry Caufield, Elena Casiraghi, Giorgio Valentini, Christopher John Mungall, Peter Nick Robinson
On the limitations of large language models in clinical diagnosis. medRxiv : the preprint server for health sciences (2023)
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin T Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter Nick Robinson
Phenopacket-tools: Building and validating GA4GH Phenopackets. PloS one 18 (5) (2023)
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin T Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter Nick Robinson
Phenopacket-tools: Building and validating GA4GH Phenopackets. PloS one 18 (5) (2023)
Guy Karlebach, Robin Steinhaus, Daniel Danis, Maeva Devoucoux, Olga Anczukow, Gloria Sheynkman, Dominik Seelow, Peter Nick Robinson
Alternative splicing is coupled to gene expression in a subset of variably expressed genes. bioRxiv : the preprint server for biology (2023)
Daniel Danis, Julius O B Jacobsen, Alex H Wagner, Tudor Groza, Martha A Beckwith, Lauren Rekerle, Leigh C Carmody, Justin T Reese, Harshad Hegde, Markus S Ladewig, Berthold Seitz, Monica Munoz-Torres, Nomi L Harris, Jordi Rambla, Michael Baudis, Christopher J Mungall, Melissa A Haendel, Peter Nick Robinson
Phenopacket-tools: Building and validating GA4GH Phenopackets. PloS one 18 (5) (2023)
Michael A Gargano, Nicolas A Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer L Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, 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 Robert 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 Henri Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberley C Gilmour, Jessica L Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Pazmandi, Benjamin M Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Řehořová, 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 A A 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 Martínez-González, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Zelinová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julián Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, Michael C Neale, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy T Peters, Timothy Putman, Christina K Rapp, Ana Rath, Justin T 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 H Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair Antonio Tenorio Castaño, Pavel Tesner, Rhys Huw Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ronald J Wapner, James Simon Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot Julia Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher John Mungall, Sebastian Koehler, Melissa A Haendel, Peter Nick Robinson
The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic acids research (2023)
Jagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, Leigh C Carmody, Amy Crandall, Daniel Danis, Michael A Gargano, Anxhela Gjyshi Gustafson, Ellen M Raney, Mallory Shingle, Jon Robert Davids, Peter Nick Robinson
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy. Cold Spring Harbor molecular case studies (2023)
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Orion J Buske, Tiffany J Callahan, Christopher G Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Andrea Essenwanger, Robert R Freimuth, Michael A Gargano, Tudor Groza, Ada Hamosh, Nomi L Harris, Rajaram Kaliyaperumal, Kevin C Kent Lloyd, Aly Khalifa, Peter M Krawitz, Sebastian Köhler, Brian J Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A McMurry, Alejandro Metke-Jimenez, Christopher J Mungall, Monica C Munoz-Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosinach, Marco Roos, Julian Sass, Paul N Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay D Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M Swietlik, Sylvia Thun, Nicole A Vasilevsky, Alex H Wagner, Jeremy L Warner, Claus Weiland, null null, Melissa A Haendel, Peter Nick Robinson
The GA4GH Phenopacket schema defines a computable representation of clinical data. Nature biotechnology 40 (6) (2022)
Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R Webster, Anthony T Moore, Peter Nick Robinson, Julius O B Jacobsen, Damian Smedley
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. Genes 11 (4) (2020)
Xingmin Aaron Zhang, Amy Yates, Nicole A Vasilevsky, J P Gourdine, Tiffany J Callahan, Leigh C Carmody, Daniel Danis, Marcin P Joachimiak, Vida Ravanmehr, Emily R Pfaff, James Champion, Kimberly Robasky, Hao Xu, Karamarie Fecho, Nephi A Walton, Richard L Zhu, Justin Ramsdill, Christopher J Mungall, Sebastian Koehler, Melissa A Haendel, Clement J McDonald, Daniel J Vreeman, David B Peden, Tellen D Bennett, James A Feinstein, Blake Martin, Adrianne L Stefanski, Lawrence E Hunter, Christopher G Chute, Peter Nick Robinson
Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery. NPJ digital medicine 2 (2019)