Peter Nick Robinson (Peter N Robinson, Peter Robinson)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 123

Top Venues

medRxiv : the preprint server for health sciences

bioRxiv : the preprint server for biology

Prenatal diagnosis

Scientific data

The Jackson Laboratory for Genomic Medicine

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

Affiliation History

The Jackson Laboratory for Genomic Medicine Aug 01 2016

United States

Professor of Computational Biology

Publications

Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (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)
Enock Niyonkuru, Mauricio Soto Gomez, Elena Casiraghi, Stephan Antogiovanni, Hannah Blau, Justin T Reese, Giorgio Valentini, Peter Nick Robinson
Replacing non-biomedical concepts improves embedding of biomedical concepts. bioRxiv : the preprint server for biology (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Elizabeth A Werren, Louisa Kalsner, Jessica Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A Audano, Peter Nick Robinson, Mark D Adams, Melissa A Kelly, Adam P Matson
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome. bioRxiv : the preprint server for biology (2024)
Yongqun Oliver He, Laura Barisoni, Avi Z Rosenberg, Peter Nick Robinson, Alexander D Diehl, Yichao Chen, Jimmy P Phuong, Jens Hansen, Bruce W Herr, Katy Börner, Jennifer A Schaub, Nikki Bonevich, Ghida Arnous, Saketh Boddapati, Jie Zheng, Fadhl M Al-Akwaa, Pinaki Sarder, William D Duncan, Chen Liang, M Todd Valerius, Sanjay Jain, Ravi Iyengar, Jonathan Himmelfarb, Matthias Kretzler, null null
Ontology-based modeling, integration, and analysis of heterogeneous clinical, pathological, and molecular kidney data for precision medicine. bioRxiv : the preprint server for biology (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)
Ben Coleman, Elena Casiraghi, Tiffany J Callahan, Hannah Blau, Lauren E Chan, Bryan Laraway, Kevin B Clark, Yochai Re'em, Ken R Gersing, Kenneth J Wilkins, Nomi L Harris, Giorgio Valentini, Melissa A Haendel, Justin T Reese, Peter Nick Robinson
Association of post-COVID phenotypic manifestations with new-onset psychiatric disease. Translational psychiatry 14 (1) (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
J Harry Caufield, Harshad Hegde, Vincent Emonet, Nomi L Harris, Marcin P Joachimiak, Nicolas A Matentzoglu, HyeongSik Kim, Sierra A T Moxon, Justin T Reese, Melissa A Haendel, Peter Nick Robinson, Christopher John Mungall
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning. Bioinformatics (Oxford, England) 40 (3) (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Ben Coleman, Elena Casiraghi, Tiffany J Callahan, Hannah Blau, Lauren E Chan, Bryan Laraway, Kevin B Clark, Yochai Re'em, Ken R Gersing, Kenneth J Wilkins, Nomi L Harris, Giorgio Valentini, Melissa A Haendel, Justin T Reese, Peter Nick Robinson
Association of post-COVID phenotypic manifestations with new-onset psychiatric disease. Translational psychiatry 14 (1) (2024)
Luca Cappelletti, Lauren Rekerle, Tommaso Fontana, Peter Hansen, Elena Casiraghi, Vida Ravanmehr, Christopher John Mungall, Jeremy J Yang, Leonard Spranger, Guy Karlebach, J Harry Caufield, Leigh C Carmody, Ben Coleman, Tudor I Oprea, Justin T Reese, Giorgio Valentini, Peter Nick Robinson
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning. Bioinformatics advances 4 (1) (2024)
Tudor Groza, Dylan Gration, Gareth Baynam, Peter Nick Robinson
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology. Bioinformatics (Oxford, England) 40 (7) (2024)
Tiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, Luca Cappelletti, Sanya B Taneja, Jordan M Wyrwa, Elena Casiraghi, Nicolas A Matentzoglu, Justin Reese, Jonathan C Silverstein, Charles Tapley Hoyt, Richard D Boyce, Scott A Malec, Deepak R Unni, Marcin P Joachimiak, Peter Nick Robinson, Christopher J Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A Gillenwater, Brook Santangelo, Nicole A Vasilevsky, Hoehndorf Robert, Tellen D Bennett, Patrick B Ryan, George Hripcsak, Michael G Kahn, Michael Bada, William A Baumgartner, Lawrence E Hunter
An open source knowledge graph ecosystem for the life sciences. Scientific data 11 (1) (2024)
Tiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, Luca Cappelletti, Sanya B Taneja, Jordan M Wyrwa, Elena Casiraghi, Nicolas A Matentzoglu, Justin Reese, Jonathan C Silverstein, Charles Tapley Hoyt, Richard D Boyce, Scott A Malec, Deepak R Unni, Marcin P Joachimiak, Peter Nick Robinson, Christopher J Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A Gillenwater, Brook Santangelo, Nicole A Vasilevsky, Hoehndorf Robert, Tellen D Bennett, Patrick B Ryan, George Hripcsak, Michael G Kahn, Michael Bada, William A Baumgartner, Lawrence E Hunter
An open source knowledge graph ecosystem for the life sciences. Scientific data 11 (1) (2024)
Tiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, Luca Cappelletti, Sanya B Taneja, Jordan M Wyrwa, Elena Casiraghi, Nicolas A Matentzoglu, Justin Reese, Jonathan C Silverstein, Charles Tapley Hoyt, Richard D Boyce, Scott A Malec, Deepak R Unni, Marcin P Joachimiak, Peter Nick Robinson, Christopher J Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A Gillenwater, Brook Santangelo, Nicole A Vasilevsky, Hoehndorf Robert, Tellen D Bennett, Patrick B Ryan, George Hripcsak, Michael G Kahn, Michael Bada, William A Baumgartner, Lawrence E Hunter
An open source knowledge graph ecosystem for the life sciences. Scientific data 11 (1) (2024)
Yasemin Bridges, Vinícius De Souza, Katherina G Cortes, Melissa A Haendel, Nomi L Harris, Daniel R Korn, Nikolaos M Marinakis, Nicolas A Matentzoglu, James Alastair McLaughlin, Christopher John Mungall, David Osumi-Sutherland, Peter Nick Robinson, Damian Smedley, Julius O B Jacobsen
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework. bioRxiv : the preprint server for biology (2024)
Yasemin Bridges, Vinícius De Souza, Katherina G Cortes, Melissa A Haendel, Nomi L Harris, Daniel R Korn, Nikolaos M Marinakis, Nicolas A Matentzoglu, James Alastair McLaughlin, Christopher John Mungall, David Osumi-Sutherland, Peter Nick Robinson, Damian Smedley, Julius O B Jacobsen
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework. bioRxiv : the preprint server for biology (2024)
Yongqun Oliver He, Laura Barisoni, Avi Z Rosenberg, Peter Nick Robinson, Alexander D Diehl, Yichao Chen, Jimmy P Phuong, Jens Hansen, Bruce W Herr, Katy Börner, Jennifer A Schaub, Nikki Bonevich, Ghida Arnous, Saketh Boddapati, Jie Zheng, Fadhl M Al-Akwaa, Pinaki Sarder, William D Duncan, Chen Liang, M Todd Valerius, Sanjay Jain, Ravi Iyengar, Jonathan Himmelfarb, Matthias Kretzler, null null
Ontology-based modeling, integration, and analysis of heterogeneous clinical, pathological, and molecular kidney data for precision medicine. bioRxiv : the preprint server for biology (2024)
Elizabeth A Werren, Louisa Kalsner, Jessica Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A Audano, Peter Nick Robinson, Mark D Adams, Melissa A Kelly, Adam P Matson
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome. bioRxiv : the preprint server for biology (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Tiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, Luca Cappelletti, Sanya B Taneja, Jordan M Wyrwa, Elena Casiraghi, Nicolas A Matentzoglu, Justin Reese, Jonathan C Silverstein, Charles Tapley Hoyt, Richard D Boyce, Scott A Malec, Deepak R Unni, Marcin P Joachimiak, Peter Nick Robinson, Christopher J Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A Gillenwater, Brook Santangelo, Nicole A Vasilevsky, Hoehndorf Robert, Tellen D Bennett, Patrick B Ryan, George Hripcsak, Michael G Kahn, Michael Bada, William A Baumgartner, Lawrence E Hunter
An open source knowledge graph ecosystem for the life sciences. Scientific data 11 (1) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Luca Cappelletti, Lauren Rekerle, Tommaso Fontana, Peter Hansen, Elena Casiraghi, Vida Ravanmehr, Christopher John Mungall, Jeremy J Yang, Leonard Spranger, Guy Karlebach, J Harry Caufield, Leigh C Carmody, Ben Coleman, Tudor I Oprea, Justin T Reese, Giorgio Valentini, Peter Nick Robinson
Node-degree aware edge sampling mitigates inflated classification performance in biomedical random walk-based graph representation learning. Bioinformatics advances 4 (1) (2024)
Tiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, Luca Cappelletti, Sanya B Taneja, Jordan M Wyrwa, Elena Casiraghi, Nicolas A Matentzoglu, Justin Reese, Jonathan C Silverstein, Charles Tapley Hoyt, Richard D Boyce, Scott A Malec, Deepak R Unni, Marcin P Joachimiak, Peter Nick Robinson, Christopher J Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A Gillenwater, Brook Santangelo, Nicole A Vasilevsky, Hoehndorf Robert, Tellen D Bennett, Patrick B Ryan, George Hripcsak, Michael G Kahn, Michael Bada, William A Baumgartner, Lawrence E Hunter
An open source knowledge graph ecosystem for the life sciences. Scientific data 11 (1) (2024)
Emanuele Cavalleri, Alberto Cabri, Mauricio Soto-Gomez, Sara Bonfitto, Paolo Perlasca, Jessica Gliozzo, Tiffany J Callahan, Justin Reese, Peter Nick Robinson, Elena Casiraghi, Giorgio Valentini, Marco Mesiti
An ontology-based knowledge graph for representing interactions involving RNA molecules. Scientific data 11 (1) (2024)
Enock Niyonkuru, Mauricio Soto Gomez, Elena Casiraghi, Stephan Antogiovanni, Hannah Blau, Justin T Reese, Giorgio Valentini, Peter Nick Robinson
Replacing non-biomedical concepts improves embedding of biomedical concepts. bioRxiv : the preprint server for biology (2024)
Emanuele Cavalleri, Alberto Cabri, Mauricio Soto-Gomez, Sara Bonfitto, Paolo Perlasca, Jessica Gliozzo, Tiffany J Callahan, Justin Reese, Peter Nick Robinson, Elena Casiraghi, Giorgio Valentini, Marco Mesiti
An ontology-based knowledge graph for representing interactions involving RNA molecules. Scientific data 11 (1) (2024)
Brian S White, Xing Yi Woo, Soner Koc, Todd Sheridan, Steven B Neuhauser, Shidan Wang, Yvonne A Evrard, Li Chen, Ali Foroughi Pour, John D Landua, R Jay Mashl, Sherri R Davies, Bingliang Fang, Maria Gabriela Raso, Kurt W Evans, Matthew H Bailey, Yeqing Chen, Min Xiao, Jill C Rubinstein, Brian J Sanderson, Michael W Lloyd, Sergii Domanskyi, Lacey Elizabeth Dobrolecki, Maihi Fujita, Junya Fujimoto, Guanghua Xiao, Ryan C Fields, Jacqueline L Mudd, George X Xu, Melinda G Hollingshead, Shahanawaz Jiwani, Saul Acevedo, null null, Brandi N Davis-Dusenbery, Peter Nick Robinson, Jeffrey A Moscow, James H Doroshow, Nicholas Mitsiades, Salma Kaochar, Chong-Xian Pan, Luis G Carvajal Carmona, Alana L Welm, Bryan E Welm, Ramaswamy Govindan, Shunqiang Li, Michael A Davies, Jack A Roth, Funda Meric-Bernstam, Yang Xie, Meenhard Herylyn, Li Ding, Michael T Lewis, Carol J Bult, Dennis A Dean, Jeffrey H Chuang
A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis. Cancer research 84 (13) (2024)
Tiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, Luca Cappelletti, Sanya B Taneja, Jordan M Wyrwa, Elena Casiraghi, Nicolas A Matentzoglu, Justin Reese, Jonathan C Silverstein, Charles Tapley Hoyt, Richard D Boyce, Scott A Malec, Deepak R Unni, Marcin P Joachimiak, Peter Nick Robinson, Christopher J Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A Gillenwater, Brook Santangelo, Nicole A Vasilevsky, Hoehndorf Robert, Tellen D Bennett, Patrick B Ryan, George Hripcsak, Michael G Kahn, Michael Bada, William A Baumgartner, Lawrence E Hunter
An open source knowledge graph ecosystem for the life sciences. Scientific data 11 (1) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Enock Niyonkuru, Mauricio Soto Gomez, Elena Casiraghi, Stephan Antogiovanni, Hannah Blau, Justin T Reese, Giorgio Valentini, Peter Nick Robinson
Replacing non-biomedical concepts improves embedding of biomedical concepts. bioRxiv : the preprint server for biology (2024)
Tudor Groza, Dylan Gration, Gareth Baynam, Peter Nick Robinson
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology. Bioinformatics (Oxford, England) 40 (7) (2024)
J Harry Caufield, Harshad Hegde, Vincent Emonet, Nomi L Harris, Marcin P Joachimiak, Nicolas A Matentzoglu, HyeongSik Kim, Sierra A T Moxon, Justin T Reese, Melissa A Haendel, Peter Nick Robinson, Christopher John Mungall
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning. Bioinformatics (Oxford, England) 40 (3) (2024)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. medRxiv : the preprint server for health sciences (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Brian S White, Xing Yi Woo, Soner Koc, Todd Sheridan, Steven B Neuhauser, Shidan Wang, Yvonne A Evrard, Li Chen, Ali Foroughi Pour, John D Landua, R Jay Mashl, Sherri R Davies, Bingliang Fang, Maria Gabriela Raso, Kurt W Evans, Matthew H Bailey, Yeqing Chen, Min Xiao, Jill C Rubinstein, Brian J Sanderson, Michael W Lloyd, Sergii Domanskyi, Lacey Elizabeth Dobrolecki, Maihi Fujita, Junya Fujimoto, Guanghua Xiao, Ryan C Fields, Jacqueline L Mudd, George X Xu, Melinda G Hollingshead, Shahanawaz Jiwani, Saul Acevedo, null null, Brandi N Davis-Dusenbery, Peter Nick Robinson, Jeffrey A Moscow, James H Doroshow, Nicholas Mitsiades, Salma Kaochar, Chong-Xian Pan, Luis G Carvajal Carmona, Alana L Welm, Bryan E Welm, Ramaswamy Govindan, Shunqiang Li, Michael A Davies, Jack A Roth, Funda Meric-Bernstam, Yang Xie, Meenhard Herylyn, Li Ding, Michael T Lewis, Carol J Bult, Dennis A Dean, Jeffrey H Chuang
A Pan-Cancer Patient-Derived Xenograft Histology Image Repository with Genomic and Pathologic Annotations Enables Deep Learning Analysis. Cancer research 84 (13) (2024)
Tiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, Luca Cappelletti, Sanya B Taneja, Jordan M Wyrwa, Elena Casiraghi, Nicolas A Matentzoglu, Justin Reese, Jonathan C Silverstein, Charles Tapley Hoyt, Richard D Boyce, Scott A Malec, Deepak R Unni, Marcin P Joachimiak, Peter Nick Robinson, Christopher J Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A Gillenwater, Brook Santangelo, Nicole A Vasilevsky, Hoehndorf Robert, Tellen D Bennett, Patrick B Ryan, George Hripcsak, Michael G Kahn, Michael Bada, William A Baumgartner, Lawrence E Hunter
An open source knowledge graph ecosystem for the life sciences. Scientific data 11 (1) (2024)
Elizabeth A Werren, Louisa Kalsner, Jessica Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A Audano, Peter Nick Robinson, Mark D Adams, Melissa A Kelly, Adam P Matson
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome. bioRxiv : the preprint server for biology (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Angela T Morgan, Ben Coleman, Adam P Vogel, Alisdair McNeill, Peter Nick Robinson
Speech and language classification in the human phenotype ontology. European journal of human genetics : EJHG (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Daniel Danis, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica Xiao-Ling Chong, Ben Coleman, Raymond Dalgleish, Peter J Freeman, Adam S L Graefe, Tudor Groza, Julius O B Jacobsen, Adam Klocperk, Maaike A A Kusters, Markus S Ladewig, Anthony J Marcello, Teresa Mattina, Christopher John Mungall, Monica C Munoz-Torres, Justin T Reese, Filip Rehburg, Bárbara C S Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F Wagstaff, David Zocche, Melissa A Haendel, Peter Nick Robinson
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery. medRxiv : the preprint server for health sciences (2024)
Tiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, Luca Cappelletti, Sanya B Taneja, Jordan M Wyrwa, Elena Casiraghi, Nicolas A Matentzoglu, Justin Reese, Jonathan C Silverstein, Charles Tapley Hoyt, Richard D Boyce, Scott A Malec, Deepak R Unni, Marcin P Joachimiak, Peter Nick Robinson, Christopher J Mungall, Emanuele Cavalleri, Tommaso Fontana, Giorgio Valentini, Marco Mesiti, Lucas A Gillenwater, Brook Santangelo, Nicole A Vasilevsky, Hoehndorf Robert, Tellen D Bennett, Patrick B Ryan, George Hripcsak, Michael G Kahn, Michael Bada, William A Baumgartner, Lawrence E Hunter
An open source knowledge graph ecosystem for the life sciences. Scientific data 11 (1) (2024)
J Harry Caufield, Harshad Hegde, Vincent Emonet, Nomi L Harris, Marcin P Joachimiak, Nicolas A Matentzoglu, HyeongSik Kim, Sierra A T Moxon, Justin T Reese, Melissa A Haendel, Peter Nick Robinson, Christopher John Mungall
Structured Prompt Interrogation and Recursive Extraction of Semantics (SPIRES): a method for populating knowledge bases using zero-shot learning. Bioinformatics (Oxford, England) 40 (3) (2024)
Enock Niyonkuru, J Harry Caufield, Leigh C Carmody, Michael Gargano, Sabrina Toro, Patricia L Whetzel, Hannah Blau, Mauricio Soto Gomez, Elena Casiraghi, Leonardo Chimirri, Justin T Reese, Giorgio Valentini, Melissa A Haendel, Christopher John Mungall, Peter Nick Robinson
Leveraging Generative AI to Accelerate Biocuration of Medical Actions for Rare Disease. medRxiv : the preprint server for health sciences (2024)
Emanuele Cavalleri, Alberto Cabri, Mauricio Soto-Gomez, Sara Bonfitto, Paolo Perlasca, Jessica Gliozzo, Tiffany J Callahan, Justin Reese, Peter Nick Robinson, Elena Casiraghi, Giorgio Valentini, Marco Mesiti
An ontology-based knowledge graph for representing interactions involving RNA molecules. Scientific data 11 (1) (2024)
Pilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Henri Duyzend, Peter Nick Robinson, Damian Smedley
Lethal phenotypes in Mendelian disorders. medRxiv : the preprint server for health sciences (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis 44 (4) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
Ben Coleman, Elena Casiraghi, Tiffany J Callahan, Hannah Blau, Lauren E Chan, Bryan Laraway, Kevin B Clark, Yochai Re'em, Ken R Gersing, Kenneth J Wilkins, Nomi L Harris, Giorgio Valentini, Melissa A Haendel, Justin T Reese, Peter Nick Robinson
Association of post-COVID phenotypic manifestations with new-onset psychiatric disease. Translational psychiatry 14 (1) (2024)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (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)
Michael Henri Duyzend, Pilar Cacheiro, Julius O B Jacobsen, Jessica L Giordano, Harrison Brand, Ronald J Wapner, Michael E Talkowski, Peter Nick Robinson, Damian Smedley
Improving prenatal diagnosis through standards and aggregation. Prenatal diagnosis (2024)
David Lagorce, Emeline Lebreton, Leslie Matalonga, Oscar Hongnat, Maroua Chahdil, Davide Piscia, Ida Paramonov, Kornelia Ellwanger, Sebastian Köhler, Peter Nick Robinson, Holm Graessner, Sergi Beltran, Caterina Lucano, Marc Hanauer, Ana Rath
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report. European journal of human genetics : EJHG (2023)
Luca Cappelletti, Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J Callahan, Carlos Cano, Marcin P Joachimiak, Christopher J Mungall, Peter Nick Robinson, Justin Reese, Giorgio Valentini
GRAPE for fast and scalable graph processing and random-walk-based embedding. Nature computational science 3 (6) (2023)
Luca Cappelletti, Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J Callahan, Carlos Cano, Marcin P Joachimiak, Christopher J Mungall, Peter Nick Robinson, Justin Reese, Giorgio Valentini
GRAPE for fast and scalable graph processing and random-walk-based embedding. Nature computational science 3 (6) (2023)
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)
Timothy Putman, Kevin Schaper, Nicolas A Matentzoglu, Vincent P Rubinetti, Faisal S Alquaddoomi, Corey Cox, J Harry Caufield, Glass Elsarboukh, Sarah Gehrke, Harshad Hegde, Justin T Reese, Ian Braun, Richard M Bruskiewich, Luca Cappelletti, Seth J Carbon, Anita R Caron, Lauren E Chan, Christopher G Chute, Katherina G Cortes, Vinícius De Souza, Tommaso Fontana, Nomi L Harris, Emily L Hartley, Eric Hurwitz, Julius O B Jacobsen, Madan Krishnamurthy, Bryan J Laraway, James Alastair McLaughlin, Julie A McMurry, Sierra A T Moxon, Kathleen R Mullen, Shawn T O'Neil, Kent A Shefchek, Ray Stefancsik, Sabrina Toro, Nicole A Vasilevsky, Ramona L Walls, Patricia L Whetzel, David Osumi-Sutherland, Damian Smedley, Peter Nick Robinson, Christopher John Mungall, Melissa A Haendel, Monica C Munoz-Torres
The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species. Nucleic acids research (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)
Luca Cappelletti, Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J Callahan, Carlos Cano, Marcin P Joachimiak, Christopher J Mungall, Peter Nick Robinson, Justin Reese, Giorgio Valentini
GRAPE for fast and scalable graph processing and random-walk-based embedding. Nature computational science 3 (6) (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)
Tiffany J Callahan, Adrianne L Stefanski, Jordan M Wyrwa, Chenjie Zeng, Anna Ostropolets, Juan M Banda, William A Baumgartner, Richard D Boyce, Elena Casiraghi, Ben D Coleman, Janine H Collins, Sara J Deakyne Davies, James A Feinstein, Asiyah Y Lin, Blake Martin, Nicolas A Matentzoglu, Daniella Meeker, Justin Reese, Jessica Sinclair, Sanya B Taneja, Katy E Trinkley, Nicole A Vasilevsky, Andrew E Williams, Xingmin A Zhang, Joshua C Denny, Patrick B Ryan, George Hripcsak, Tellen D Bennett, Melissa A Haendel, Peter Nick Robinson, Lawrence E Hunter, Michael G Kahn
Ontologizing health systems data at scale: making translational discovery a reality. NPJ digital medicine 6 (1) (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)
Luca Stefanucci, Janine H Collins, Matthew Christopher Sims, Iñigo Barrio-Hernandez, Luanluan Sun, Oliver S Burren, Livia Perfetto, Isobel Bender, Tiffany J Callahan, Kathryn Fleming, Jose Antonio Guerrero, Henning Hermjakob, Maria Jesus Martin, James David Stephenson, Kalpana Panneerselvam, Slavé Petrovski, Pablo Porras, Peter Nick Robinson, Quanli Wang, Xavier Watkins, Mattia Frontini, Roman A Laskowski, Pedro Beltrao, Emanuele Di Angelantonio, Keith Gomez, Michael A Laffan, Willem Hendrik Ouwehand, Andrew D Mumford, Kathleen Freson, Keren Jacqueline Carss, Kate Downes, Nicholas S Gleadall, Karyn Megy, Elspeth A Bruford, Dragana Vuckovic
The effects of pathogenic variants for inherited hemostasis disorders in 140,214 UK Biobank participants. Blood (2023)
Lauren E Chan, Elena Casiraghi, Timothy Putman, Justin T Reese, Quaker E Harmon, Kevin Schaper, Harshad Hedge, Giorgio Valentini, Charles P Schmitt, Allison A Motsinger-Reif, Janet E Hall, Christopher John Mungall, Peter Nick Robinson, Melissa A Haendel
Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests. medRxiv : the preprint server for health sciences (2023)
Luca Cappelletti, Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J Callahan, Carlos Cano, Marcin P Joachimiak, Christopher J Mungall, Peter Nick Robinson, Justin Reese, Giorgio Valentini
GRAPE for fast and scalable graph processing and random-walk-based embedding. Nature computational science 3 (6) (2023)
Luca Cappelletti, Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J Callahan, Carlos Cano, Marcin P Joachimiak, Christopher J Mungall, Peter Nick Robinson, Justin Reese, Giorgio Valentini
GRAPE for fast and scalable graph processing and random-walk-based embedding. Nature computational science 3 (6) (2023)
Ray Stefancsik, James P Balhoff, Meghan A Balk, Robyn L Ball, Susan M Bello, Anita R Caron, Elissa J Chesler, Vinícius De Souza, Sarah Gehrke, Melissa A Haendel, Laura W Harris, Nomi L Harris, Arwa Ibrahim, Sebastian Koehler, Nicolas A Matentzoglu, Julie A McMurry, Christopher John Mungall, Monica C Munoz-Torres, Timothy Putman, Peter Nick Robinson, Damian Smedley, Elliot Sollis, Anne E Thessen, Nicole A Vasilevsky, David O Walton, David Osumi-Sutherland
The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences. bioRxiv : the preprint server for biology (2023)
Tiffany J Callahan, Adrianne L Stefanski, Jordan M Wyrwa, Chenjie Zeng, Anna Ostropolets, Juan M Banda, William A Baumgartner, Richard D Boyce, Elena Casiraghi, Ben D Coleman, Janine H Collins, Sara J Deakyne Davies, James A Feinstein, Asiyah Y Lin, Blake Martin, Nicolas A Matentzoglu, Daniella Meeker, Justin Reese, Jessica Sinclair, Sanya B Taneja, Katy E Trinkley, Nicole A Vasilevsky, Andrew E Williams, Xingmin A Zhang, Joshua C Denny, Patrick B Ryan, George Hripcsak, Tellen D Bennett, Melissa A Haendel, Peter Nick Robinson, Lawrence E Hunter, Michael G Kahn
Ontologizing health systems data at scale: making translational discovery a reality. NPJ digital medicine 6 (1) (2023)
Leigh C Carmody, Michael A Gargano, Sabrina Toro, Nicole A Vasilevsky, Margaret P Adam, Hannah Blau, Lauren E Chan, David Gomez Andres, Rita Horvath, Megan L Kraus, Markus S Ladewig, David Lewis-Smith, Hanns Lochmüller, Nicolas A Matentzoglu, Monica C Munoz-Torres, Catharina Schuetz, Berthold Seitz, Morgan N Similuk, Teresa N Sparks, Timmy Strauß, Emilia M Swietlik, Rachel Thompson, Xingmin Aaron Zhang, Christopher John Mungall, Melissa A Haendel, Peter Nick Robinson
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease. medRxiv : the preprint server for health sciences (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)
Luca Cappelletti, Tommaso Fontana, Elena Casiraghi, Vida Ravanmehr, Tiffany J Callahan, Carlos Cano, Marcin P Joachimiak, Christopher J Mungall, Peter Nick Robinson, Justin Reese, Giorgio Valentini
GRAPE for fast and scalable graph processing and random-walk-based embedding. Nature computational science 3 (6) (2023)
Tiffany J Callahan, Adrianne L Stefanski, Jordan M Wyrwa, Chenjie Zeng, Anna Ostropolets, Juan M Banda, William A Baumgartner, Richard D Boyce, Elena Casiraghi, Ben D Coleman, Janine H Collins, Sara J Deakyne Davies, James A Feinstein, Asiyah Y Lin, Blake Martin, Nicolas A Matentzoglu, Daniella Meeker, Justin Reese, Jessica Sinclair, Sanya B Taneja, Katy E Trinkley, Nicole A Vasilevsky, Andrew E Williams, Xingmin A Zhang, Joshua C Denny, Patrick B Ryan, George Hripcsak, Tellen D Bennett, Melissa A Haendel, Peter Nick Robinson, Lawrence E Hunter, Michael G Kahn
Ontologizing health systems data at scale: making translational discovery a reality. NPJ digital medicine 6 (1) (2023)
Tiffany J Callahan, Adrianne L Stefanski, Jordan M Wyrwa, Chenjie Zeng, Anna Ostropolets, Juan M Banda, William A Baumgartner, Richard D Boyce, Elena Casiraghi, Ben D Coleman, Janine H Collins, Sara J Deakyne Davies, James A Feinstein, Asiyah Y Lin, Blake Martin, Nicolas A Matentzoglu, Daniella Meeker, Justin Reese, Jessica Sinclair, Sanya B Taneja, Katy E Trinkley, Nicole A Vasilevsky, Andrew E Williams, Xingmin A Zhang, Joshua C Denny, Patrick B Ryan, George Hripcsak, Tellen D Bennett, Melissa A Haendel, Peter Nick Robinson, Lawrence E Hunter, Michael G Kahn
Ontologizing health systems data at scale: making translational discovery a reality. NPJ digital medicine 6 (1) (2023)
Ray Stefancsik, James P Balhoff, Meghan A Balk, Robyn L Ball, Susan M Bello, Anita R Caron, Elissa J Chesler, Vinícius De Souza, Sarah Gehrke, Melissa A Haendel, Laura W Harris, Nomi L Harris, Arwa Ibrahim, Sebastian Koehler, Nicolas A Matentzoglu, Julie A McMurry, Christopher John Mungall, Monica C Munoz-Torres, Timothy Putman, Peter Nick Robinson, Damian Smedley, Elliot Sollis, Anne E Thessen, Nicole A Vasilevsky, David O Walton, David Osumi-Sutherland
The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences. bioRxiv : the preprint server for biology (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)
Soner Koc, Michael W Lloyd, Jeffrey W Grover, Nan Xiao, Sara Seepo, Sai Lakshmi Subramanian, Manisha Ray, Christian Frech, John DiGiovanna, Phillip Webster, Steven Neuhauser, Anuj Srivastava, Xing Yi Woo, Brian J Sanderson, Brian White, Paul Lott, Lacey E Dobrolecki, Heidi Dowst, null null, Yvonne A Evrard, Tiffany A Wallace, Jeffrey A Moscow, James H Doroshow, Nicholas Mitsiades, Salma Kaochar, Chong-Xian Pan, Moon S Chen, Luis Carvajal-Carmona, Alana L Welm, Bryan E Welm, Michael T Lewis, Ramaswamy Govindan, Li Ding, Shunqiang Li, Meenhard Herlyn, Michael A Davies, Jack Roth, Funda Meric-Bernstam, Peter Nick Robinson, Carol J Bult, Brandi Davis-Dusenbery, Dennis A Dean, Jeffrey H Chuang
PDXNet portal: patient-derived Xenograft model, data, workflow and tool discovery. NAR cancer 4 (2) (2022)
Julius O B Jacobsen, Catherine Kelly, Valentina Cipriani, Genomics England Research Consortium, Christopher J Mungall, Justin Reese, Daniel Danis, Peter Nick Robinson, Damian Smedley
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease. Human mutation 43 (8) (2022)
Justin T Reese, Ben Coleman, Lauren Chan, Hannah Blau, Tiffany J Callahan, Luca Cappelletti, Tommaso Fontana, Katie R Bradwell, Nomi L Harris, Elena Casiraghi, Giorgio Valentini, Guy Karlebach, Rachel Deer, Julie A McMurry, Melissa A Haendel, Christopher G Chute, Emily Pfaff, Richard Moffitt, Heidi Spratt, Jasvinder A Singh, Christopher J Mungall, Andrew E Williams, Peter Nick Robinson
NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study. Virology journal 19 (1) (2022)
Markus S Ladewig, Julius O B Jacobsen, Alex H Wagner, Daniel Danis, Baha El Kassaby, Michael Gargano, Tudor Groza, Michael Baudis, Robin Steinhaus, Dominik Seelow, Nikolaos E Bechrakis, Christopher J Mungall, Paul N Schofield, Olivier Elemento, Lindsay Smith, Julie A McMurry, Monica Munoz-Torres, Melissa A Haendel, Peter Nick Robinson
GA4GH Phenopackets: A Practical Introduction. Advanced genetics (Hoboken, N.J.) 4 (1) (2022)
Robin Steinhaus, Sebastian Proft, Evelyn Seelow, Tobias Schalau, Peter Nick Robinson, Dominik Seelow
Deep phenotyping: symptom annotation made simple with SAMS. Nucleic acids research (2022)
Justin T Reese, Hannah Blau, Timothy Bergquist, Johanna J Loomba, Tiffany J Callahan, Bryan Laraway, Corneliu Antonescu, Elena Casiraghi, Ben Coleman, Michael Gargano, Kenneth Wilkins, Luca Cappelletti, Tommaso Fontana, Nariman Ammar, Blessy Antony, T M Murali, Guy Karlebach, Julie A McMurry, Andrew Williams, Richard Moffitt, Jineta Banerjee, Anthony E Solomonides, Hannah Davis, Kristin Kostka, Giorgio Valentini, David Sahner, Christopher G Chute, Charisse Madlock-Brown, Melissa A Haendel, Peter Nick Robinson, null null
Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER Programs. medRxiv : the preprint server for health sciences (2022)
Robin Steinhaus, Peter Nick Robinson, Dominik Seelow
FABIAN-variant: predicting the effects of DNA variants on transcription factor binding. Nucleic acids research (2022)
Markus S Ladewig, Julius O B Jacobsen, Alex H Wagner, Daniel Danis, Baha El Kassaby, Michael Gargano, Tudor Groza, Michael Baudis, Robin Steinhaus, Dominik Seelow, Nikolaos E Bechrakis, Christopher J Mungall, Paul N Schofield, Olivier Elemento, Lindsay Smith, Julie A McMurry, Monica Munoz-Torres, Melissa A Haendel, Peter Nick Robinson
GA4GH Phenopackets: A Practical Introduction. Advanced genetics (Hoboken, N.J.) 4 (1) (2022)
Ferdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, Isabel Filges, Teresa N Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Beneteau, Pilar Cacheiro, Leigh C Carmody, Sophie Collardeau-Frachon, Esther A Dempsey, Andreas Dufke, Michael Henri Duyzend, Mirna El Ghosh, Jessica L Giordano, Ragnhild Glad, Ieva Grinfelde, Dominic G Iliescu, Markus S Ladewig, Monica C Munoz-Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodo, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole A Vasilevsky, Ronald J Wapner, Roni Zemet, Melissa A Haendel, Peter Nick Robinson
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. American journal of medical genetics. Part C, Seminars in medical genetics 190 (2) (2022)
Ben Coleman, Elena Casiraghi, Tiffany J Callahan, Hannah Blau, Lauren Chan, Bryan Laraway, Kevin B Clark, Yochai Reâ Em, Ken R Gersing, Ken Wilkins, Nomi L Harris, Giorgio Valentini, Melissa A Haendel, Justin T Reese, Peter Nick Robinson, null null
Post-COVID Phenotypic Manifestations are Associated with New-Onset Psychiatric Disease: Findings from the NIH N3C and RECOVER Studies. medRxiv : the preprint server for health sciences (2022)
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)
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernandez-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José María Fernandez, Mats G Hansson, Rita Horvath, Julius O B Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada-de-la-Paz, Jordi Rambla De Argila, Ana Rath, Olaf H Rieß, Peter Nick Robinson, David Salgado, Damian Smedley, J Dylan Spalding, Peter A C 't Hoen, Ana Topf, Irina T Zaharieva, Holm Graessner, Ivo Glynne Gut, Hanns Lochmüller, Sergi Beltran
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human mutation 43 (6) (2022)
Daniel Danis, Julius O B Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J Lyon, Ingo Helbig, Christopher J Mungall, Christine R Beck, Charles Lee, Damian Smedley, Peter Nick Robinson
SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing. Genome medicine 14 (1) (2022)
Justin T Reese, Ben Coleman, Lauren E Chan, Hannah Blau, Tiffany J Callahan, Luca Cappelletti, Tommaso Fontana, Katie Rebecca Bradwell, Nomi L Harris, Elena Casiraghi, Giorgio Valentini, Guy Karlebach, Rachel R Deer, Julie A McMurry, Melissa A Haendel, Christopher G Chute, Emily Rose Pfaff, Richard A Moffitt, Heidi M Spratt, Jasvinder A Singh, Christopher John Mungall, Andrew E Williams, Peter Nick Robinson
Cyclooxygenase inhibitor use is associated with increased COVID-19 severity. medRxiv : the preprint server for health sciences (2021)
Guy Karlebach, Bruce Aronow, Stephen B Baylin, Daniel Butler, Jonathan Foox, Shawn Levy, Cem Meydan, Christopher Mozsary, Amanda M Saravia-Butler, Deanne M Taylor, Eve Wurtele, Christopher E Mason, Afshin Behesti, Peter Nick Robinson
Betacoronavirus-specific alternate splicing. bioRxiv : the preprint server for biology (2021)
Vida Ravanmehr, Hannah Blau, Luca Cappelletti, Tommaso Fontana, Leigh Carmody, Ben Coleman, Joshy George, Justin Reese, Marcin Joachimiak, Giovanni Bocci, Peter Hansen, Carol J Bult, Jens Rueter, Elena Casiraghi, Giorgio Valentini, Christopher John Mungall, Tudor I Oprea, Peter Nick Robinson
Supervised learning with word embeddings derived from PubMed captures latent knowledge about protein kinases and cancer. NAR genomics and bioinformatics 3 (4) (2021)
Ben Coleman, Elena Casiraghi, Hannah Blau, Lauren Chan, Melissa A Haendel, Bryan Laraway, Tiffany J Callahan, Rachel R Deer, Ken Wilkins, Justin Reese, Peter Nick Robinson
Increased risk of psychiatric sequelae of COVID-19 is highest early in the clinical course. medRxiv : the preprint server for health sciences (2021)

Peter Nick Robinson.css-eqlu8i{font-size:small;padding-left:4px;} (Peter N Robinson, Peter Robinson)

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Peter Nick Robinson (Peter N Robinson, Peter Robinson)